Journal of Pathology and Translational Medicine

Original Article

Usefulness of BRAF VE1 immunohistochemistry in non–small cell lung cancers: a multi-institutional study by 15 pathologists in Korea: Sunhee Chang, Yoon-La Choi, Hyo Sup Shim, Geon Kook Lee, Seung Yeon Ha; J Pathol Transl Med. 2022;56(6):334-341. Published online October 27, 2022; DOI: https://doi.org/10.4132/jptm.2022.08.22

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Background
Next-generation sequencing (NGS) is an approved test to select patients for BRAF V600E targeted therapy in Korea. However, the high cost, long turnaround times, and the need for sophisticated equipment and skilled personnel limit the use of NGS in daily practice. Immunohistochemistry (IHC) is a rapid and relatively inexpensive assay available in most laboratories. Therefore, in this study, we evaluate the usefulness of BRAF VE1 IHC in terms of predictive value and interobserver agreement in non–small cell lung cancers (NSCLCs).
Methods
A total of 30 cases with known BRAF mutation status were selected, including 20 cases of lung adenocarcinomas, six cases of colorectal adenocarcinomas, and four cases of papillary thyroid carcinomas. IHC for BRAF V600E was carried out using the VE1 antibody. Fifteen pathologists independently scored both the staining intensity and the percentage of tumor cell staining on whole slide images.
Results
In the lung adenocarcinoma subset, interobserver agreement for the percentage of tumor cell staining and staining intensity was good (percentage of tumor cell staining, intraclass correlation coefficient = 0.869; staining intensity, kappa = 0.849). The interobserver agreement for the interpretation using the cutoff of 40% was almost perfect in the entire study group and the lung adenocarcinoma subset (kappa = 0.815). Sensitivity, specificity, positive predictive value, and negative predictive value of BRAF VE1 IHC were 80.0%, 90.0%, 88.9%, and 81.8%, respectively.
Conclusions
BRAF VE1 IHC could be a screening test for the detection of BRAF V600E mutation in NSCLC. However, further studies are needed to optimize the protocol and to establish and validate interpretation criteria for BRAF VE1 IHC.

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Dedifferentiated Leiomyosarcoma of the Uterine Corpus with Heterologous Component: Clinicopathological Analysis of Five Consecutive Cases from a Single Institution and Comprehensive Literature Review
Suyeon Kim, Hyunsik Bae, Hyun-Soo Kim
Diagnostics.2024; 14(2): 160. CrossRef
Differentiating BRAF V600E- and RAS-like alterations in encapsulated follicular patterned tumors through histologic features: a validation study
Chankyung Kim, Shipra Agarwal, Andrey Bychkov, Jen-Fan Hang, Agnes Stephanie Harahap, Mitsuyoshi Hirokawa, Kennichi Kakudo, Somboon Keelawat, Chih-Yi Liu, Zhiyan Liu, Truong Phan-Xuan Nguyen, Chanchal Rana, Huy Gia Vuong, Yun Zhu, Chan Kwon Jung
Virchows Archiv.2024;[Epub] CrossRef
BRAF V600E Mutation of Non-Small Cell Lung Cancer in Korean Patients
Hyo Yeong Ahn, Chang Hun Lee, Min Ki Lee, Jung Seop Eom, Yeon Joo Jeong, Yeong Dae Kim, Jeong Su Cho, Jonggeun Lee, So Jeong Lee, Dong Hoon Shin, Ahrong Kim
Medicina.2023; 59(6): 1085. CrossRef
Reevaluating diagnostic categories and associated malignancy risks in thyroid core needle biopsy
Chan Kwon Jung
Journal of Pathology and Translational Medicine.2023; 57(4): 208. CrossRef

Reviews

Molecular biomarker testing for non–small cell lung cancer: consensus statement of the Korean Cardiopulmonary Pathology Study Group: Sunhee Chang, Hyo Sup Shim, Tae Jung Kim, Yoon-La Choi, Wan Seop Kim, Dong Hoon Shin, Lucia Kim, Heae Surng Park, Geon Kook Lee, Chang Hun Lee; J Pathol Transl Med. 2021;55(3):181-191. Published online May 11, 2021; DOI: https://doi.org/10.4132/jptm.2021.03.23

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Abstract PDF

Molecular biomarker testing is the standard of care for non–small cell lung cancer (NSCLC) patients. In 2017, the Korean Cardiopulmonary Pathology Study Group and the Korean Molecular Pathology Study Group co-published a molecular testing guideline which contained almost all known genetic changes that aid in treatment decisions or predict prognosis in patients with NSCLC. Since then there have been significant changes in targeted therapies as well as molecular testing including newly approved targeted drugs and liquid biopsy. In order to reflect these changes, the Korean Cardiopulmonary Pathology Study Group developed a consensus statement on molecular biomarker testing. This consensus statement was crafted to provide guidance on what genes should be tested, as well as methodology, samples, patient selection, reporting and quality control.

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Clinicopathologic and Molecular Characteristics of HER2 (ERBB2)-Altered Non-Small Cell Lung Cancer: Implications for Precision Medicine
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FACILITATE: A real-world, multicenter, prospective study investigating the utility of a rapid, fully automated real-time PCR assay versus local reference methods for detecting epidermal growth factor receptor variants in NSCLC
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Pathology and Oncology Research.2023;[Epub] CrossRef
Problems in the Pathologic Diagnosis of Suspected Lung Cancer
Soo Han Kim, Mi-Hyun Kim, Min Ki Lee, Jung Seop Eom
Tuberculosis and Respiratory Diseases.2023; 86(3): 176. CrossRef
Mesonephric-like Adenocarcinoma of the Ovary: Clinicopathological and Molecular Characteristics
Hyun Hee Koh, Eunhyang Park, Hyun-Soo Kim
Diagnostics.2022; 12(2): 326. CrossRef
Alveolar Soft Part Sarcoma of the Uterus: Clinicopathological and Molecular Characteristics
Yurimi Lee, Kiyong Na, Ha Young Woo, Hyun-Soo Kim
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Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing
Jeonghyo Lee, Yeon Bi Han, Hyun Jung Kwon, Song Kook Lee, Hyojin Kim, Jin-Haeng Chung
Journal of Pathology and Translational Medicine.2022; 56(5): 249. CrossRef
Biomarker testing of cytology specimens in personalized medicine for lung cancer patients
Hyojin Kim, Jin-Haeng Chung
Journal of Pathology and Translational Medicine.2022; 56(6): 326. CrossRef
Usefulness of BRAF VE1 immunohistochemistry in non–small cell lung cancers: a multi-institutional study by 15 pathologists in Korea
Sunhee Chang, Yoon-La Choi, Hyo Sup Shim, Geon Kook Lee, Seung Yeon Ha
Journal of Pathology and Translational Medicine.2022; 56(6): 334. CrossRef
Lung Cancer in Korea
Sehhoon Park, Chang-Min Choi, Seung-Sik Hwang, Yoon-La Choi, Hyae Young Kim, Young-Chul Kim, Young Tae Kim, Ho Yun Lee, Si Yeol Song, Myung-Ju Ahn
Journal of Thoracic Oncology.2021; 16(12): 1988. CrossRef

Current status and future perspectives of liquid biopsy in non-small cell lung cancer: Sunhee Chang, Jae Young Hur, Yoon-La Choi, Chang Hun Lee, Wan Seop Kim; J Pathol Transl Med. 2020;54(3):204-212. Published online April 15, 2020; DOI: https://doi.org/10.4132/jptm.2020.02.27

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Abstract PDF

With advances in target therapy, molecular analysis of tumors is routinely required for treatment decisions in patients with advanced non-small cell lung cancer (NSCLC). Liquid biopsy refers to the sampling and analysis of circulating cell-free tumor DNA (ctDNA) in various body fluids, primarily blood. Because the technique is minimally invasive, liquid biopsies are the future in cancer management. Epidermal growth factor receptor (EGFR) ctDNA tests have been performed in routine clinical practice in advanced NSCLC patients to guide tyrosine kinase inhibitor treatment. In the near future, liquid biopsy will be a crucial prognostic, predictive, and diagnostic method in NSCLC. Here we present the current status and future perspectives of liquid biopsy in NSCLC.

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Mesonephric-like Adenocarcinoma of the Ovary: Clinicopathological and Molecular Characteristics
Hyun Hee Koh, Eunhyang Park, Hyun-Soo Kim
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Alveolar Soft Part Sarcoma of the Uterus: Clinicopathological and Molecular Characteristics
Yurimi Lee, Kiyong Na, Ha Young Woo, Hyun-Soo Kim
Diagnostics.2022; 12(5): 1102. CrossRef
Exosomal MicroRNA Analyses in Esophageal Squamous Cell Carcinoma Cell Lines
Sora Kim, Gwang Ha Kim, Su Jin Park, Chae Hwa Kwon, Hoseok I, Moon Won Lee, Bong Eun Lee
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Molecular biomarker testing for non–small cell lung cancer: consensus statement of the Korean Cardiopulmonary Pathology Study Group
Sunhee Chang, Hyo Sup Shim, Tae Jung Kim, Yoon-La Choi, Wan Seop Kim, Dong Hoon Shin, Lucia Kim, Heae Surng Park, Geon Kook Lee, Chang Hun Lee
Journal of Pathology and Translational Medicine.2021; 55(3): 181. CrossRef
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Future Perspectives in Detecting EGFR and ALK Gene Alterations in Liquid Biopsies of Patients with NSCLC
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Real-World Analysis of the EGFR Mutation Test in Tissue and Plasma Samples from Non-Small Cell Lung Cancer
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Original Article

Interobserver Reproducibility of PD-L1 Biomarker in Non-small Cell Lung Cancer: A Multi-Institutional Study by 27 Pathologists: Sunhee Chang, Hyung Kyu Park, Yoon-La Choi, Se Jin Jang; J Pathol Transl Med. 2019;53(6):347-353. Published online October 28, 2019; DOI: https://doi.org/10.4132/jptm.2019.09.29

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Abstract PDF

Background
Assessment of programmed cell death-ligand 1 (PD-L1) immunohistochemical staining is used for treatment decisions in non-small cell lung cancer (NSCLC) regarding use of PD-L1/programmed cell death protein 1 (PD-1) immunotherapy. The reliability of the PD-L1 22C3 pharmDx assay is critical in guiding clinical practice. The Cardiopulmonary Pathology Study Group of the Korean Society of Pathologists investigated the interobserver reproducibility of PD-L1 staining with 22C3 pharmDx in NSCLC samples.
Methods
Twenty-seven pathologists individually assessed the tumor proportion score (TPS) for 107 NSCLC samples. Each case was divided into three levels based on TPS: <1%, 1%–49%, and ≥50%.
Results
The intraclass correlation coefficient for TPS was 0.902±0.058. Weighted κ coefficient for 3-step assessment was 0.748±0.093. The κ coefficients for 1% and 50% cut-offs were 0.633 and 0.834, respectively. There was a significant association between interobserver reproducibility and experience (formal PD-L1 training, more experience for PD-L1 assessment, and longer practice duration on surgical pathology), histologic subtype, and specimen type.
Conclusions
Our results indicate that PD-L1 immunohistochemical staining provides a reproducible basis for decisions on anti–PD-1 therapy in NSCLC.

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Annals of Diagnostic Pathology.2020; 48: 151602. CrossRef

Case Study

Abrupt Dyskeratotic and Squamoid Cells in Poorly Differentiated Carcinoma: Case Study of Two Thoracic NUT Midline Carcinomas with Cytohistologic Correlation: Taebum Lee, Sangjoon Choi, Joungho Han, Yoon-La Choi, Kyungjong Lee; J Pathol Transl Med. 2018;52(5):349-353. Published online July 27, 2018; DOI: https://doi.org/10.4132/jptm.2018.07.16

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Abstract PDF

Cytologic diagnosis of nuclear protein in testis (NUT) midline carcinoma (NMC) is important due to its aggressive behavior and miserable prognosis. Early diagnosis of NMC can facilitate proper management, and here we report two rare cases of thoracic NMC with cytohistologic correlation. In aspiration cytology, the tumor presented with mixed cohesive clusters and dispersed single cells, diffuse background necrosis and many neutrophils. Most of the tumor cells had scanty cytoplasm and medium-sized irregular nuclei, which had fine to granular nuclear chromatin. Interestingly, a few dyskeratotic cells or squamoid cell clusters were present in each case. Biopsy specimen histology revealed more frequent squamous differentiation, and additional immunohistochemistry tests showed nuclear expression of NUT. Because this tumor has a notorious progression and has been previously underestimated in terms of its prevalence, awareness of characteristic findings and proper ancillary tests should be considered in all suspicious cases.

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Diagnostic significance and cytological features of NUT carcinoma by EBUS‐FNA, a case report and literature review
Yaping Ju, Miriam Velazquez, Andy Sherrod, Tiannan Wang
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BRD3‐NUTM1‐expressing NUT carcinoma of lung on endobronchial ultrasound‐guided transbronchial needle aspiration cytology, a diagnostic pitfall
Sameer Chhetri Aryal, Shereen Zia, Shannon Rodgers, Yulei Shen, Kyle Perry, Lisi Yuan
Diagnostic Cytopathology.2022;[Epub] CrossRef
Nuclear protein of the testis midline carcinoma of the thorax
Ayae Saiki, Keita Sakamoto, Yuan Bee, Takehiro Izumo
Japanese Journal of Clinical Oncology.2022; 52(6): 531. CrossRef
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Diagnosis, Treatment and Prognosis of Primary Pulmonary NUT Carcinoma: A Literature Review
Jiaqian Yuan, Zhili Xu, Yong Guo
Current Oncology.2022; 29(10): 6807. CrossRef
Case report: Immunovirotherapy as a novel add-on treatment in a patient with thoracic NUT carcinoma
Linus D. Kloker, Branko Calukovic, Katrin Benzler, Alexander Golf, Sebastian Böhm, Sven Günther, Marius Horger, Simone Haas, Susanne Berchtold, Julia Beil, Mary E. Carter, Tina Ganzenmueller, Stephan Singer, Abbas Agaimy, Robert Stöhr, Arndt Hartmann, Tho
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Cytomorphology of primary pulmonary NUT carcinoma in different cytology preparations
Rimlee Dutta, Aruna Nambirajan, Saurabh Mittal, Sinchita Roy‐Chowdhuri, Deepali Jain
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Update on genetically defined lung neoplasms: NUT carcinoma and thoracic SMARCA4-deficient undifferentiated tumors
Kyriakos Chatzopoulos, Jennifer M. Boland
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Immunotherapy and Targeting the Tumor Microenvironment: Current Place and New Insights in Primary Pulmonary NUT Carcinoma
Xiang Li, Hui Shi, Wei Zhang, Chong Bai, Miaoxia He, Na Ta, Haidong Huang, Yunye Ning, Chen Fang, Hao Qin, Yuchao Dong
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Prevalence of NUT carcinoma in head and neck: Analysis of 362 cases with literature review
Taebum Lee, Junhun Cho, Chung‐Hwan Baek, Young‐Ik Son, Han‐Sin Jeong, Man Ki Chung, Sang Duk Hong, Yong Chan Ahn, Dong Ryul Oh, Jae Myoung Noh, Keunchil Park, Myung‐Ju Ahn, Hyung‐Jin Kim, Yi Kyung Kim, Young Hyeh Ko
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Lung nuclear protein in testis carcinoma in an elderly Korean woman: A case report with cytohistological analysis
Hwa Jin Cho, Hyun‐Kyung Lee
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Clinicopathological characteristics of primary lung nuclear protein in testis carcinoma: A single‐institute experience of 10 cases
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Reviews

Good Laboratory Standards for Clinical Next-Generation Sequencing Cancer Panel Tests: Jihun Kim, Woong-Yang Park, Nayoung K. D. Kim, Se Jin Jang, Sung-Min Chun, Chang-Ohk Sung, Jene Choi, Young-Hyeh Ko, Yoon-La Choi, Hyo Sup Shim, Jae-Kyung Won; J Pathol Transl Med. 2017;51(3):191-204. Published online May 10, 2017; DOI: https://doi.org/10.4132/jptm.2017.03.14

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1,056 Download
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Abstract PDF

Next-generation sequencing (NGS) has recently emerged as an essential component of personalized cancer medicine due to its high throughput and low per-base cost. However, no sufficient guidelines for implementing NGS as a clinical molecular pathology test are established in Korea. To ensure clinical grade quality without inhibiting adoption of NGS, a taskforce team assembled by the Korean Society of Pathologists developed laboratory guidelines for NGS cancer panel testing procedures and requirements for clinical implementation of NGS. This consensus standard proposal consists of two parts: laboratory guidelines and requirements for clinical NGS laboratories. The laboratory guidelines part addressed several important issues across multistep NGS cancer panel tests including choice of gene panel and platform, sample handling, nucleic acid management, sample identity tracking, library preparation, sequencing, analysis and reporting. Requirements for clinical NGS tests were summarized in terms of documentation, validation, quality management, and other required written policies. Together with appropriate pathologist training and international laboratory standards, these laboratory standards would help molecular pathology laboratories to successfully implement NGS cancer panel tests in clinic. In this way, the oncology community would be able to help patients to benefit more from personalized cancer medicine.

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Journal of Pathology and Translational Medicine.2023; 57(5): 265. CrossRef
Clinical applications of next-generation sequencing in the diagnosis of genetic disorders in Korea: a narrative review
Jihoon G. Yoon, Man Jin Kim, Yong Jin Kwon, Jong-Hee Chae
Journal of the Korean Medical Association.2023; 66(10): 613. CrossRef
Obtaining spatially resolved tumor purity maps using deep multiple instance learning in a pan-cancer study
Mustafa Umit Oner, Jianbin Chen, Egor Revkov, Anne James, Seow Ye Heng, Arife Neslihan Kaya, Jacob Josiah Santiago Alvarez, Angela Takano, Xin Min Cheng, Tony Kiat Hon Lim, Daniel Shao Weng Tan, Weiwei Zhai, Anders Jacobsen Skanderup, Wing-Kin Sung, Hwee
Patterns.2022; 3(2): 100399. CrossRef
Update on Molecular Diagnosis in Extranodal NK/T-Cell Lymphoma and Its Role in the Era of Personalized Medicine
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Defining Novel DNA Virus-Tumor Associations and Genomic Correlates Using Prospective Clinical Tumor/Normal Matched Sequencing Data
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The Journal of Molecular Diagnostics.2022; 24(5): 515. CrossRef
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Clinical Quality Considerations when Using Next-Generation Sequencing (NGS) in Clinical Drug Development
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Journal of Medical Internet Research.2021; 23(4): e26261. CrossRef
Status of Next-Generation Sequencing-Based Genetic Diagnosis in Hematologic Malignancies in Korea (2017-2018)
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Laboratory Medicine Online.2021; 11(1): 25. CrossRef
MSI-Testung
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Der Pathologe.2021; 42(4): 414. CrossRef
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Journal of Pathology and Translational Medicine.2021; 55(3): 181. CrossRef
MSI testing
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Der Pathologe.2021; 42(S1): 110. CrossRef
16S rDNA microbiome composition pattern analysis as a diagnostic biomarker for biliary tract cancer
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World Journal of Surgical Oncology.2020;[Epub] CrossRef
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Chan Kwon Jung, Seung-Hyun Jung, Sora Jeon, Young Mun Jeong, Yourha Kim, Sohee Lee, Ja-Seong Bae, Yeun-Jun Chung
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Application Areas of Traditional Molecular Genetic Methods and NGS in relation to Hereditary Urological Cancer Diagnosis
Dmitry S. Mikhaylenko, Alexander S. Tanas, Dmitry V. Zaletaev, Marina V. Nemtsova
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Assembling and Validating Bioinformatic Pipelines for Next-Generation Sequencing Clinical Assays
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Archives of Pathology & Laboratory Medicine.2020; 144(9): 1118. CrossRef
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Genetics in Medicine.2019; 21(4): 972. CrossRef
A DNA pool of FLT3-ITD positive DNA samples can be used efficiently for analytical evaluation of NGS-based FLT3-ITD quantitation - Testing several different ITD sequences and rates, simultaneously
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Journal of Biotechnology.2019; 303: 25. CrossRef
Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges
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Journal of Personalized Medicine.2019; 9(3): 40. CrossRef
Cancer Panel Assay for Precision Oncology Clinic: Results from a 1-Year Study
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Translational Oncology.2019; 12(11): 1488. CrossRef
Analytical Evaluation of an NGS Testing Method for Routine Molecular Diagnostics on Melanoma Formalin-Fixed, Paraffin-Embedded Tumor-Derived DNA
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Diagnostics.2019; 9(3): 117. CrossRef
Benchmark Database for Process Optimization and Quality Control of Clinical Cancer Panel Sequencing
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Biotechnology and Bioprocess Engineering.2019; 24(5): 793. CrossRef
Use of the Ion PGM and the GeneReader NGS Systems in Daily Routine Practice for Advanced Lung Adenocarcinoma Patients: A Practical Point of View Reporting a Comparative Study and Assessment of 90 Patients
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Use of the Ion AmpliSeq Cancer Hotspot Panel in clinical molecular pathology laboratories for analysis of solid tumours: With emphasis on validation with relevant single molecular pathology tests and the Oncomine Focus Assay
Ahwon Lee, Sung-Hak Lee, Chan Kwon Jung, Gyungsin Park, Kyo Young Lee, Hyun Joo Choi, Ki Ouk Min, Tae Jung Kim, Eun Jung Lee, Youn Soo Lee
Pathology - Research and Practice.2018; 214(5): 713. CrossRef
Recent Advancement of the Molecular Diagnosis in Pediatric Brain Tumor
Jeong-Mo Bae, Jae-Kyung Won, Sung-Hye Park
Journal of Korean Neurosurgical Society.2018; 61(3): 376. CrossRef
The long tail of molecular alterations in non-small cell lung cancer: a single-institution experience of next-generation sequencing in clinical molecular diagnostics
Caterina Fumagalli, Davide Vacirca, Alessandra Rappa, Antonio Passaro, Juliana Guarize, Paola Rafaniello Raviele, Filippo de Marinis, Lorenzo Spaggiari, Chiara Casadio, Giuseppe Viale, Massimo Barberis, Elena Guerini-Rocco
Journal of Clinical Pathology.2018; 71(9): 767. CrossRef
Clinical laboratory utilization management and improved healthcare performance
Christopher Naugler, Deirdre L. Church
Critical Reviews in Clinical Laboratory Sciences.2018; 55(8): 535. CrossRef
Development of HLA-A, -B and -DR Typing Method Using Next-Generation Sequencing
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The Korean Journal of Blood Transfusion.2018; 29(3): 310. CrossRef
Value-based genomics
Jun Gong, Kathy Pan, Marwan Fakih, Sumanta Pal, Ravi Salgia
Oncotarget.2018; 9(21): 15792. CrossRef

Molecular Testing of Lung Cancers: Hyo Sup Shim, Yoon-La Choi, Lucia Kim, Sunhee Chang, Wan-Seop Kim, Mee Sook Roh, Tae-Jung Kim, Seung Yeon Ha, Jin-Haeng Chung, Se Jin Jang, Geon Kook Lee; J Pathol Transl Med. 2017;51(3):242-254. Published online April 21, 2017; DOI: https://doi.org/10.4132/jptm.2017.04.10

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Abstract PDF

Targeted therapies guided by molecular diagnostics have become a standard treatment of lung cancer. Epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK) rearrangements are currently used as the best predictive biomarkers for EGFR tyrosine kinase inhibitors and ALK inhibitors, respectively. Besides EGFR and ALK, the list of druggable genetic alterations has been growing, including ROS1 rearrangements, RET rearrangements, and MET alterations. In this situation, pathologists should carefully manage clinical samples for molecular testing and should do their best to quickly and accurately identify patients who will benefit from precision therapeutics. Here, we grouped molecular biomarkers of lung cancers into three categories—mutations, gene rearrangements, and amplifications—and propose expanded guidelines on molecular testing of lung cancers.

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Cell Death & Disease.2023;[Epub] CrossRef
Molecular Pathology of Lung Cancer
James J. Saller, Theresa A. Boyle
Cold Spring Harbor Perspectives in Medicine.2022; 12(3): a037812. CrossRef
Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing
Jeonghyo Lee, Yeon Bi Han, Hyun Jung Kwon, Song Kook Lee, Hyojin Kim, Jin-Haeng Chung
Journal of Pathology and Translational Medicine.2022; 56(5): 249. CrossRef
Molecular biomarker testing for non–small cell lung cancer: consensus statement of the Korean Cardiopulmonary Pathology Study Group
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Journal of Pathology and Translational Medicine.2021; 55(3): 181. CrossRef
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Cancer Research and Treatment.2021; 53(1): 9. CrossRef
The promises and challenges of early non‐small cell lung cancer detection: patient perceptions, low‐dose CT screening, bronchoscopy and biomarkers
Lukas Kalinke, Ricky Thakrar, Sam M. Janes
Molecular Oncology.2021; 15(10): 2544. CrossRef
Cost-effectiveness analyses of targeted therapy and immunotherapy for advanced non-small cell lung cancer in the United States: a systematic review
Anthony Yu, Eva Huang, Momoka Abe, Kang An, Sun-Kyeong Park, Chanhyun Park
Expert Review of Pharmacoeconomics & Outcomes Research.2021; 21(3): 381. CrossRef
The expanding capability and clinical relevance of molecular diagnostic technology to identify and evaluate EGFR mutations in advanced/metastatic NSCLC
Parth Shah, Jacob Sands, Nicola Normanno
Lung Cancer.2021; 160: 118. CrossRef
Testing for EGFR Mutations and ALK Rearrangements in Advanced Non-Small-Cell Lung Cancer: Considerations for Countries in Emerging Markets
Mercedes L Dalurzo, Alejandro Avilés-Salas, Fernando Augusto Soares, Yingyong Hou, Yuan Li, Anna Stroganova, Büge Öz, Arif Abdillah, Hui Wan, Yoon-La Choi
OncoTargets and Therapy.2021; Volume 14: 4671. CrossRef
Treatment of Patients With Non–Small-Cell Lung Cancer Harboring Rare Oncogenic Mutations
Melina E. Marmarelis, Corey J. Langer
Clinical Lung Cancer.2020; 21(5): 395. CrossRef
Detection of Targetable Genetic Alterations in Korean Lung Cancer Patients: A Comparison Study of Single-Gene Assays and Targeted Next-Generation Sequencing
Eunhyang Park, Hyo Sup Shim
Cancer Research and Treatment.2020; 52(2): 543. CrossRef
High prevalence of ROS1 gene rearrangement detected by FISH in EGFR and ALK negative lung adenocarcinoma
Yuyin Xu, Heng Chang, Lijing Wu, Xin Zhang, Ling Zhang, Jing Zhang, Yuan Li, Lei Shen, Xiaoli Zhu, Xiaoyan Zhou, Qianming Bai
Experimental and Molecular Pathology.2020; 117: 104548. CrossRef
An All-In-One Transcriptome-Based Assay to Identify Therapy-Guiding Genomic Aberrations in Nonsmall Cell Lung Cancer Patients
Jiacong Wei, Anna A. Rybczynska, Pei Meng, Martijn Terpstra, Ali Saber, Jantine Sietzema, Wim Timens, Ed Schuuring, T. Jeroen N. Hiltermann, Harry. J.M. Groen, Anthonie van der Wekken, Anke van den Berg, Klaas Kok
Cancers.2020; 12(10): 2843. CrossRef
Immunotherapy in EGFR-Mutant and ALK-Positive Lung Cancer
Alexander Gavralidis, Justin F. Gainor
The Cancer Journal.2020; 26(6): 517. CrossRef
Role of Immunocytochemistry in the Cytological Diagnosis of Pulmonary Tumors
Jasna Metovic, Luisella Righi, Luisa Delsedime, Marco Volante, Mauro Papotti
Acta Cytologica.2020; 64(1-2): 16. CrossRef
Molecular Diagnostic Assays and Clinicopathologic Implications of MET Exon 14 Skipping Mutation in Non–small-cell Lung Cancer
Eun Kyung Kim, Kyung A. Kim, Chang Young Lee, Sangwoo Kim, Sunhee Chang, Byoung Chul Cho, Hyo Sup Shim
Clinical Lung Cancer.2019; 20(1): e123. CrossRef
PD‐L1 expression in ROS1‐rearranged non‐small cell lung cancer: A study using simultaneous genotypic screening of EGFR, ALK, and ROS1
Jongmin Lee, Chan Kwon Park, Hyoung‐Kyu Yoon, Young Jo Sa, In Sook Woo, Hyo Rim Kim, Sue Youn Kim, Tae‐Jung Kim
Thoracic Cancer.2019; 10(1): 103. CrossRef
Human Leukocyte Antigen Class I and Programmed Death-Ligand 1 Coexpression Is an Independent Poor Prognostic Factor in Adenocarcinoma of the Lung
Yeon Bi Han, Hyun Jung Kwon, Soo Young Park, Eun-Sun Kim, Hyojin Kim, Jin-Haeng Chung
Journal of Pathology and Translational Medicine.2019; 53(2): 86. CrossRef
Molecular testing for advanced non-small cell lung cancer in Malaysia: Consensus statement from the College of Pathologists, Academy of Medicine Malaysia, the Malaysian Thoracic Society, and the Malaysian Oncological Society
Pathmanathan Rajadurai, Phaik Leng Cheah, Soon Hin How, Chong Kin Liam, Muhammad Azrif Ahmad Annuar, Norhayati Omar, Noriah Othman, Nurhayati Mohd Marzuki, Yong Kek Pang, Ros Suzanna Ahmad Bustamam, Lye Mun Tho
Lung Cancer.2019; 136: 65. CrossRef
Somatic mutations and immune checkpoint biomarkers
Brielle A. Parris, Eloise Shaw, Brendan Pang, Richie Soong, Kwun Fong, Ross A. Soo
Respirology.2019; 24(3): 215. CrossRef
Adverse Event Management in Patients with BRAF V600E-Mutant Non-Small Cell Lung Cancer Treated with Dabrafenib plus Trametinib
Anna Chalmers, Laura Cannon, Wallace Akerley
The Oncologist.2019; 24(7): 963. CrossRef
Genetic and clinicopathologic characteristics of lung adenocarcinoma with tumor spread through air spaces
Jae Seok Lee, Eun Kyung Kim, Moonsik Kim, Hyo Sup Shim
Lung Cancer.2018; 123: 121. CrossRef

Brief Case Report

Metastatic Squamous Cell Carcinoma from Lung Adenocarcinoma after Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor Therapy: Hyung Kyu Park, Youjeong Seo, Yoon-La Choi, Myung-Ju Ahn, Joungho Han; J Pathol Transl Med. 2017;51(4):441-443. Published online April 4, 2017; DOI: https://doi.org/10.4132/jptm.2016.10.18

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Journal of Cancer Research and Clinical Oncology.2023; 149(13): 11333. CrossRef
Morphologic-Molecular Transformation of Oncogene Addicted Non-Small Cell Lung Cancer
Fiorella Calabrese, Federica Pezzuto, Francesca Lunardi, Francesco Fortarezza, Sofia-Eleni Tzorakoleftheraki, Maria Vittoria Resi, Mariaenrica Tiné, Giulia Pasello, Paul Hofman
International Journal of Molecular Sciences.2022; 23(8): 4164. CrossRef
T790M mutation positive squamous cell carcinoma transformation from EGFR-mutated lung adenocarcinoma after low dose erlotinib: A case report and literature review
Yusaku Kusaba, Yuichiro Takeda, Sakurako Abe, Akinari Tsukada, Go Naka
Medicine.2022; 101(32): e29682. CrossRef
Case Report: EGFR-Positive Early-Stage Lung Adenocarcinoma Transforming to Squamous Cell Carcinoma After TKI Treatment
Jiatao Liao, Yuan Li, Chang Liu, Qianqian Long, Jialei Wang
Frontiers in Oncology.2021;[Epub] CrossRef
Squamous cell carcinoma transformation of lung adenocarcinoma after tyrosine kinase inhibitor therapy: Cytological approach
Alexandra Grosse, Claudia Grosse
Cytopathology.2020; 31(3): 232. CrossRef
Outcome of EGFR-mutated adenocarcinoma NSCLC patients with changed phenotype to squamous cell carcinoma after tyrosine kinase inhibitors: A pooled analysis with an additional case
Elisa Roca, Marta Pozzari, William Vermi, Valeria Tovazzi, Alice Baggi, Vito Amoroso, Daniela Nonnis, Salvatore Intagliata, Alfredo Berruti
Lung Cancer.2019; 127: 12. CrossRef
Squamous Cell Transformation of Primary Lung Adenocarcinoma in a Patient With EML4-ALK Fusion Variant 5 Refractory to ALK Inhibitors
Jay Gong, Jeffrey P. Gregg, Weijie Ma, Ken Yoneda, Elizabeth H. Moore, Megan E. Daly, Yanhong Zhang, Melissa J. Williams, Tianhong Li
Journal of the National Comprehensive Cancer Network.2019; 17(4): 297. CrossRef
Pathological transition as the arising mechanism for drug resistance in lung cancer
Yueqing Chen, Waiying Yvonne Tang, Xinyuan Tong, Hongbin Ji
Cancer Communications.2019; 39(1): 1. CrossRef
Afatinib

Reactions Weekly.2017; 1669(1): 18. CrossRef

Original Articles

Transformation to Small Cell Lung Cancer of Pulmonary Adenocarcinoma: Clinicopathologic Analysis of Six Cases: Soomin Ahn, Soo Hyun Hwang, Joungho Han, Yoon-La Choi, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Myung-Ju Ahn, Woong-Yang Park; J Pathol Transl Med. 2016;50(4):258-263. Published online May 10, 2016; DOI: https://doi.org/10.4132/jptm.2016.04.19

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Abstract PDF

Background
Epidermal growth factor receptor (EGFR) tyrosine kinase inhibitors (TKIs) are considered the first line treatment for a subset of EGFR-mutated non-small cell lung cancer (NSCLC) patients. Although transformation to small cell lung cancer (SCLC) is one of the known mechanisms of resistance to EGFR TKIs, it is not certain whether transformation to SCLC is exclusively found as a mechanism of TKI resistance in EGFR-mutant tumors.
Methods
We identified six patients with primary lung adenocarcinoma that showed transformation to SCLC on second biopsy (n = 401) during a 6-year period. Clinicopathologic information was analyzed and EGFR mutation results were compared between initial and second biopsy samples.
Results
Six patients showed transformation from adenocarcinoma to SCLC, of which four were pure SCLCs and two were combined adenocarcinoma and SCLCs. Clinically, four cases were EGFR-mutant tumors from non-smoking females who underwent TKI treatment, and the EGFR mutation was retained in the transformed SCLC tumors. The remaining two adenocarcinomas were EGFR wild-type, and one of these patients received EGFR TKI treatment.
Conclusions
NSCLC can acquire a neuroendocrine phenotype with or without EGFR TKI treatment.

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Xi Ding, Min-xing Shi, Di Liu, Jing-xue Cao, Kai-xuan Zhang, Run-dong Zhang, Li-ping Zhang, Kai-xing Ai, Bo Su, Jie Zhang
Cell Communication and Signaling.2024;[Epub] CrossRef
The study of primary and acquired resistance to first-line osimertinib to improve the outcome of EGFR-mutated advanced Non-small cell lung cancer patients: the challenge is open for new therapeutic strategies
Alessandra Ferro, Gian Marco Marinato, Cristiana Mulargiu, Monica Marino, Giulia Pasello, Valentina Guarneri, Laura Bonanno
Critical Reviews in Oncology/Hematology.2024; 196: 104295. CrossRef
Comprehensive molecular and clinical insights into non-small cell lung cancer transformation to small cell lung cancer with an illustrative case report
Kresimir Tomic, Kristina Krpina, Lara Baticic, Miroslav Samarzija, Semir Vranic
Journal of Drug Targeting.2024; : 1. CrossRef
Exon-18-EGFR Mutated Transformed Small-Cell Lung Cancer: A Case Report and Literature Review
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Current Oncology.2023; 30(3): 3494. CrossRef
Current knowledge of small cell lung cancer transformation from non-small cell lung cancer
Giuseppe Giaccone, Yongfeng He
Seminars in Cancer Biology.2023; 94: 1. CrossRef
Targeting the EGFR signaling pathway in cancer therapy: What’s new in 2023?
Sushanta Halder, Soumi Basu, Shobhit P. Lall, Apar K. Ganti, Surinder K. Batra, Parthasarathy Seshacharyulu
Expert Opinion on Therapeutic Targets.2023; 27(4-5): 305. CrossRef
Outcomes in Patients With Lung Adenocarcinoma With Transformation to Small Cell Lung Cancer After EGFR Tyrosine Kinase Inhibitors Resistance: A Systematic Review and Pooled Analysis
Jinhe Xu, Lihuan Xu, Baoshan Wang, Wencui Kong, Ying Chen, Zongyang Yu
Frontiers in Oncology.2022;[Epub] CrossRef
Small cell lung cancer transformation: From pathogenesis to treatment
Xiaomeng Yin, Yueyi Li, Hang Wang, Tingting Jia, Enli Wang, Yuling Luo, Yuhao Wei, Zeyi Qin, Xuelei Ma
Seminars in Cancer Biology.2022; 86: 595. CrossRef
Small Cell Lung Cancer Transformation following Treatment in EGFR-Mutated Non-Small Cell Lung Cancer
Isa Mambetsariev, Leonidas Arvanitis, Jeremy Fricke, Rebecca Pharaon, Angel R. Baroz, Michelle Afkhami, Marianna Koczywas, Erminia Massarelli, Ravi Salgia
Journal of Clinical Medicine.2022; 11(5): 1429. CrossRef
Morphologic-Molecular Transformation of Oncogene Addicted Non-Small Cell Lung Cancer
Fiorella Calabrese, Federica Pezzuto, Francesca Lunardi, Francesco Fortarezza, Sofia-Eleni Tzorakoleftheraki, Maria Vittoria Resi, Mariaenrica Tiné, Giulia Pasello, Paul Hofman
International Journal of Molecular Sciences.2022; 23(8): 4164. CrossRef
Genomic and Gene Expression Studies Helped to Define the Heterogeneity of Small-Cell Lung Cancer and Other Lung Neuroendocrine Tumors and to Identify New Therapeutic Targets
Ugo Testa, Elvira Pelosi, Germana Castelli
Onco.2022; 2(3): 186. CrossRef
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Xiao Chu, Yuyin Xu, Ye Li, Yue Zhou, Li Chu, Xi Yang, Jianjiao Ni, Yida Li, Tiantian Guo, Zhiqin Zheng, Qiang Zheng, Qianlan Yao, Yuan Li, Xiaoyan Zhou, Zhengfei Zhu
Lung Cancer.2022; 169: 22. CrossRef
Three Third-Generation Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitors in Non-Small Cell Lung Cancer: Similarities and Differences
Ling Chen, Yangqingqing Zhou, Chaosheng Gan, XiaoLi Wang, Yihui Liu, Chunhui Dong, Ruiyuan He, Jin Yang
Cancer Investigation.2022; 40(7): 590. CrossRef
Histomorphological transformation from non-small cell lung carcinoma to small cell lung carcinoma after targeted therapy or immunotherapy: A report of two cases
Hao Liu, Li-Hong Chen, Zhi-Hui Zhang, Ning Wang, Si-Hui Zhuang, Hao Chen, Jin Du, Li-Juan Pang, Yan Qi
Frontiers in Oncology.2022;[Epub] CrossRef
Impressive response to dabrafenib, trametinib, and osimertinib in a metastatic EGFR-mutant/BRAF V600E lung adenocarcinoma patient
Maurício Fernando Silva Almeida Ribeiro, Franciele Hinterholz Knebel, Fabiana Bettoni, Rodrigo Saddi, Karina Perez Sacardo, Felipe Sales Nogueira Amorim Canedo, João Victor Machado Alessi, Andrea Kazumi Shimada, José Flávio Gomes Marin, Anamaria Aranha Ca
npj Precision Oncology.2021;[Epub] CrossRef
Histological transformation of non-small cell lung cancer: Clinical analysis of nine cases
Cai-Bao Jin, Ling Yang
World Journal of Clinical Cases.2021; 9(18): 4617. CrossRef
Lamellarin 14, a derivative of marine alkaloids, inhibits the T790M/C797S mutant epidermal growth factor receptor
Naoyuki Nishiya, Yusuke Oku, Chie Ishikawa, Tsutomu Fukuda, Shingo Dan, Tetsuo Mashima, Masaru Ushijima, Yoko Furukawa, Yuka Sasaki, Keishi Otsu, Tomoko Sakyo, Masanori Abe, Honami Yonezawa, Fumito Ishibashi, Masaaki Matsuura, Akihiro Tomida, Hiroyuki Sei
Cancer Science.2021; 112(5): 1963. CrossRef
Case Report: Transformation From Non-Small Cell Lung Cancer to Small Cell Lung Cancer During Anti-PD-1 Therapy: A Report of Two Cases
Qian Shen, Jingjing Qu, Lingyan Sheng, Qiqi Gao, Jianying Zhou
Frontiers in Oncology.2021;[Epub] CrossRef
Exploring the resistance mechanisms of second-line osimertinib and their prognostic implications using next-generation sequencing in patients with non-small-cell lung cancer
Kyoungmin Lee, Deokhoon Kim, Shinkyo Yoon, Dae Ho Lee, Sang-We Kim
European Journal of Cancer.2021; 148: 202. CrossRef
Comprehensive analysis of treatment modes and clinical outcomes of small cell lung cancer transformed from epidermal growth factor receptor mutant lung adenocarcinoma
Shouzheng Wang, Tongji Xie, Xuezhi Hao, Yan Wang, Xingsheng Hu, Lin Wang, Yan Li, Junling Li, Puyuan Xing
Thoracic Cancer.2021; 12(19): 2585. CrossRef
EGFR-Mutant SCLC Exhibits Heterogeneous Phenotypes and Resistance to Common Antineoplastic Drugs
Chih-An Lin, Sung-Liang Yu, Hsuan-Yu Chen, Huei-Wen Chen, Shr-Uen Lin, Chia-Ching Chang, Chong-Jen Yu, Pan-Chyr Yang, Chao-Chi Ho
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The clinicopathologic of pulmonary adenocarcinoma transformation to small cell lung cancer
Haiyan Yang, Li Liu, Chunhua Zhou, Yi Xiong, Yijuan Hu, Nong Yang, Jingjing Qu
Medicine.2019; 98(12): e14893. CrossRef
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Olayinka O. Ajani, Martins T. Nlebemuo, Joseph A. Adekoya, Kehinde O. Ogunniran, Tolutope O. Siyanbola, Christiana O. Ajanaku
Acta Pharmaceutica.2019; 69(2): 177. CrossRef
Resistance to EGFR inhibitors in non-small cell lung cancer: Clinical management and future perspectives
Chiara Tomasello, Cinzia Baldessari, Martina Napolitano, Giulia Orsi, Giulia Grizzi, Federica Bertolini, Fausto Barbieri, Stefano Cascinu
Critical Reviews in Oncology/Hematology.2018; 123: 149. CrossRef
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Cancer Biology & Therapy.2018; 19(6): 445. CrossRef
Anaplastic lymphoma kinase (ALK)-expressing Lung Adenocarcinoma with Combined Neuroendocrine Component or Neuroendocrine Transformation: Implications for Neuroendocrine Transformation and Response to ALK-tyrosine Kinase Inhibitors
Jongmin Sim, Hyunjin Kim, Jiyeon Hyeon, Yoon-La Choi, Joungho Han
Journal of Korean Medical Science.2018;[Epub] CrossRef
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Geoffrey R. Oxnard, Yuebi Hu, Kathryn F. Mileham, Hatim Husain, Daniel B. Costa, Philip Tracy, Nora Feeney, Lynette M. Sholl, Suzanne E. Dahlberg, Amanda J. Redig, David J. Kwiatkowski, Michael S. Rabin, Cloud P. Paweletz, Kenneth S. Thress, Pasi A. Jänne
JAMA Oncology.2018; 4(11): 1527. CrossRef
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Lung Cancer.2018; 125: 282. CrossRef
Transformation to small‑cell lung cancer following treatment with icotinib in a patient with lung adenocarcinoma
Hongyang Lu, Bo Chen, Jing Qin, Fajun Xie, Na Han, Zhiyu Huang
Oncology Letters.2018;[Epub] CrossRef
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Monalisa Hui, ShantveerG Uppin, BalaJoseph Stalin, G Sadashivudu
Lung India.2018; 35(2): 160. CrossRef
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Ram Niwas, Shibdas Chakrabarti, Viswesvaran Balasubramanian, ManasKamal Sen, JagdishChander Suri
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Journal of Clinical Oncology.2017; 35(26): 3065. CrossRef
Australian recommendations for EGFR T790M testing in advanced non-small cell lung cancer
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Non-small Cell Lung Cancer with Concomitant EGFR, KRAS, and ALK Mutation: Clinicopathologic Features of 12 Cases: Taebum Lee, Boram Lee, Yoon-La Choi, Joungho Han, Myung-Ju Ahn, Sang-Won Um; J Pathol Transl Med. 2016;50(3):197-203. Published online April 18, 2016; DOI: https://doi.org/10.4132/jptm.2016.03.09

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Abstract PDF

Background
Although epidermal growth factor receptor (EGFR), v-Ki-ras2 Kirsten rat sarcoma viral oncogene (KRAS), and anaplastic lymphoma kinase (ALK) mutations in non-small cell lung cancer (NSCLC) were thought to be mutually exclusive, some tumors harbor concomitant mutations. Discovering a driver mutation on the basis of morphologic features and therapeutic responses with mutation analysis can be used to understand pathogenesis and predict resistance in targeted therapy.
Methods
In 6,637 patients with NSCLC, 12 patients who had concomitant mutations were selected and clinicopathologic features were reviewed. Clinical characteristics included sex, age, smoking history, previous treatment, and targeted therapy with response and disease-free survival. Histologic features included dominant patterns, nuclear and cytoplasmic features.
Results
All patients were diagnosed with adenocarcinoma and had an EGFR mutation. Six patients had concomitant KRAS mutations and the other six had ALK mutations. Five of six EGFR-KRAS mutation patients showed papillary and acinar histologic patterns with hobnail cells. Three of six received EGFR tyrosine kinase inhibitor (TKI) and showed partial response for 7–29 months. All six EGFR-ALK mutation patients showed solid or cribriform patterns and three had signet ring cells. Five of six EGFR-ALK mutation patients received EGFR TKI and/or ALK inhibitor and four showed partial response or stable disease, except for one patient who had acquired an EGFR mutation.
Conclusions
EGFR and ALK mutations play an important role as driver mutations in double mutated NSCLC, and morphologic analysis can be used to predict treatment response.

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Critical Reviews™ in Oncogenesis.2024; 29(2): 1. CrossRef
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Seminars in Roentgenology.2023; 58(2): 184. CrossRef
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Targeted Oncology.2023; 18(3): 425. CrossRef
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Rebecca M. Peter, Md. Shahid Sarwar, Sarah Z. Mostafa, Yujue Wang, Xiaoyang Su, Ah‐Ng Kong
Molecular Carcinogenesis.2023; 62(8): 1136. CrossRef
Differential Distribution of Brain Metastases from Non-Small Cell Lung Cancer Based on Mutation Status
Bihong T. Chen, Taihao Jin, Ningrong Ye, Sean W. Chen, Russell C. Rockne, Stephanie Yoon, Isa Mambetsariev, Ebenezer Daniel, Ravi Salgia
Brain Sciences.2023; 13(7): 1057. CrossRef
Clinicopathological features and prognostic significance of pulmonary adenocarcinoma with signet ring cell components: meta-analysis and SEER analysis
Yang Tan, Ying-he Huang, Jia-wen Xue, Rui Zhang, Run Liu, Yan Wang, Zhen-Bo Feng
Clinical and Experimental Medicine.2023; 23(8): 4341. CrossRef
Ganoderma microsporum immunomodulatory protein as an extracellular epidermal growth factor receptor (EGFR) degrader for suppressing EGFR-positive lung cancer cells
Wei-Jyun Hua, Hsin Yeh, Zhi-Hu Lin, Ai-Jung Tseng, Li-Chen Huang, Wei-Lun Qiu, Tsung-Hsi Tu, Ding-Han Wang, Wei-Hung Hsu, Wei-Lun Hwang, Tung-Yi Lin
Cancer Letters.2023; 578: 216458. CrossRef
Next generation sequencing for detection of EGFR alterations in NSCLC: is more better?
Ullas Batra, Shrinidhi Nathany, Mansi Sharma, Parveen Jain, Anurag Mehta
Journal of Clinical Pathology.2022; 75(3): 164. CrossRef
Enkurin domain containing 1 (ENKD1) regulates the proliferation, migration and invasion of non‐small cell lung cancer cells
Ting Song, Peng Zhou, Chunjiao Sun, Na He, Haixia Li, Jie Ran, Jun Zhou, Yue Wu, Min Liu
Asia-Pacific Journal of Clinical Oncology.2022;[Epub] CrossRef
Targeting Mutant Kirsten Rat Sarcoma Viral Oncogene Homolog in Non-Small Cell Lung Cancer: Current Difficulties, Integrative Treatments and Future Perspectives
Jia-Xin Li, Run-Ze Li, Lin-Rui Ma, Peng Wang, Dong-Han Xu, Jie Huang, Li-Qi Li, Ling Tang, Ying Xie, Elaine Lai-Han Leung, Pei-Yu Yan
Frontiers in Pharmacology.2022;[Epub] CrossRef
Histone H3K9 methyltransferase SETDB1 augments invadopodia formation to promote tumor metastasis
Shuhei Ueshima, Jia Fang
Oncogene.2022; 41(24): 3370. CrossRef
ESMO expert consensus statements on the management of EGFR mutant non-small-cell lung cancer
A. Passaro, N. Leighl, F. Blackhall, S. Popat, K. Kerr, M.J. Ahn, M.E. Arcila, O. Arrieta, D. Planchard, F. de Marinis, A.M. Dingemans, R. Dziadziuszko, C. Faivre-Finn, J. Feldman, E. Felip, G. Curigliano, R. Herbst, P.A. Jänne, T. John, T. Mitsudomi, T.
Annals of Oncology.2022; 33(5): 466. CrossRef
Molecular Targets in Lung Cancer: Study of the Evolution of Biomarkers Associated with Treatment with Tyrosine Kinase Inhibitors—Has NF1 Tumor Suppressor a Key Role in Acquired Resistance?
Begoña O. Alen, Lara S. Estévez-Pérez, María Teresa Hermida-Romero, Ana Reguera-Arias, Rosario García-Campelo, Mercedes de la Torre-Bravos, Ángel Concha
Cancers.2022; 14(14): 3323. CrossRef
Analytical and clinical validation of a custom 15-gene next-generation sequencing panel for the evaluation of circulating tumor DNA mutations in patients with advanced non-small-cell lung cancer
Yock Ping Chow, Norziha Zainul Abidin, Ken Siong Kow, Lye Mun Tho, Chieh Lee Wong, Rama Krishna Kancha
PLOS ONE.2022; 17(10): e0276161. CrossRef
Potential Therapeutic Strategy for EGFR-Mutant Lung Cancer With Concomitant EML4-ALK Rearrangement—Combination of EGFR Tyrosine Kinase Inhibitors and ALK Inhibitors
Ming-Hung Huang, Jih-Hsiang Lee, Pei-Shan Hung, James Chih-Hsin Yang
JTO Clinical and Research Reports.2022; 3(11): 100405. CrossRef
Artificial Intelligence in Lung Cancer Imaging: Unfolding the Future
Michaela Cellina, Maurizio Cè, Giovanni Irmici, Velio Ascenti, Natallia Khenkina, Marco Toto-Brocchi, Carlo Martinenghi, Sergio Papa, Gianpaolo Carrafiello
Diagnostics.2022; 12(11): 2644. CrossRef
A single center analysis of first-line treatment in advanced KRAS mutant non-small cell lung cancer: real-world practice
Yanxia Liu, Yuan Gao, Ying Wang, Cong Zhao, Zhiyun Zhang, Baolan Li, Tongmei Zhang
BMC Cancer.2022;[Epub] CrossRef
High frequency of KRAS and EGFR mutation profiles in BRAF-negative thyroid carcinomas in Indonesia
Didik Setyo Heriyanto, Vincent Laiman, Nikko Vanda Limantara, Widyan Putra Anantawikrama, Fara Silvia Yuliani, Rita Cempaka, Sumadi Lukman Anwar
BMC Research Notes.2022;[Epub] CrossRef
Targeted next-generation sequencing for cancer-associated gene mutation and copy number detection in 206 patients with non–small-cell lung cancer
Songbai Zheng, Xiaodan Wang, Ying Fu, Beibei Li, Jianhua Xu, Haifang Wang, Zhen Huang, Hui Xu, Yurong Qiu, Yaozhou Shi, Kui Li
Bioengineered.2021; 12(1): 791. CrossRef
How mathematical modeling could contribute to the quantification of metastatic tumor burden under therapy: insights in immunotherapeutic treatment of non-small cell lung cancer
Pirmin Schlicke, Christina Kuttler, Christian Schumann
Theoretical Biology and Medical Modelling.2021;[Epub] CrossRef
A case of concomitant EGFR/ALK alteration against a mutated EGFR background in early-stage lung adenocarcinoma
Ki-Chang Lee, Jiwon Koh, Doo Hyun Chung, Yoon Kyung Jeon
Journal of Pathology and Translational Medicine.2021; 55(2): 139. CrossRef
Malfeasance of KRAS mutations in carcinogenesis
Rupal Tripathi, Shrinidhi Nathany, Anurag Mehta, Ullas Batra, Sakshi Mattoo, Mansi Sharma
Clinical and Experimental Medicine.2021; 21(3): 439. CrossRef
Detection of Low-Frequency KRAS Mutations in cfDNA From EGFR-Mutated NSCLC Patients After First-Line EGFR Tyrosine Kinase Inhibitors
Giorgia Nardo, Jessica Carlet, Ludovica Marra, Laura Bonanno, Alice Boscolo, Alessandro Dal Maso, Andrea Boscolo Bragadin, Stefano Indraccolo, Elisabetta Zulato
Frontiers in Oncology.2021;[Epub] CrossRef
Non-Small Cell Lung Cancer Harboring Concurrent EGFR Genomic Alterations: A Systematic Review and Critical Appraisal of the Double Dilemma
Valerio Gristina, Maria La Mantia, Antonio Galvano, Sofia Cutaia, Nadia Barraco, Marta Castiglia, Alessandro Perez, Marco Bono, Federica Iacono, Martina Greco, Katia Calcara, Valentina Calò, Sergio Rizzo, Lorena Incorvaia, Maria Chiara Lisanti, Giulia San
Journal of Molecular Pathology.2021; 2(2): 173. CrossRef
Testing for EGFR Mutations and ALK Rearrangements in Advanced Non-Small-Cell Lung Cancer: Considerations for Countries in Emerging Markets
Mercedes L Dalurzo, Alejandro Avilés-Salas, Fernando Augusto Soares, Yingyong Hou, Yuan Li, Anna Stroganova, Büge Öz, Arif Abdillah, Hui Wan, Yoon-La Choi
OncoTargets and Therapy.2021; Volume 14: 4671. CrossRef
Untangling the KRAS mutated lung cancer subsets and its therapeutic implications
Kulshrestha Ritu, Pawan Kumar, Amit Singh, K. Nupur, Sonam Spalgias, Parul Mrigpuri, Rajkumar
Molecular Biomedicine.2021;[Epub] CrossRef
Lorlatinib Induces Durable Disease Stabilization in a Pancreatic Cancer Patient with a ROS1 p.L1950F Mutation: Case Report
Janna-Lisa Velthaus, Peter Iglauer, Ronald Simon, Carsten Bokemeyer, Peter Bannas, Niklas Beumer, Charles D. Imbusch, Eray Goekkurt, Sonja Loges
Oncology Research and Treatment.2021; 44(9): 495. CrossRef
Proteasome-dependent degradation of Smad7 is critical for lung cancer metastasis
Lu Tong, Shihui Shen, Quan Huang, Junjiang Fu, Tianzhen Wang, Linian Pan, Pei Zhang, Geng Chen, Tingmei Huang, Ke Li, Qingwu Liu, Shaofang Xie, Xiao Yang, Robb E. Moses, Xiaotao Li, Lei Li
Cell Death & Differentiation.2020; 27(6): 1795. CrossRef
Circulating cell-free DNA as a diagnostic and prognostic biomarker for non-small-cell lung cancer: a systematic review and meta-analysis
Zhoumiao Chen, Huiwen Miao, Qingxin Zeng, Shaohua Xu, Zhao Chen, Kai Liu
Biomarkers in Medicine.2020; 14(7): 587. CrossRef
Influence of EGFR-activating mutations on sensitivity to tyrosine kinase inhibitors in a KRAS mutant non-small cell lung cancer cell line
Yoshinori Tsukumo, Mikihiko Naito, Takayoshi Suzuki, Srikumar Chellappan
PLOS ONE.2020; 15(3): e0229712. CrossRef
KRAS oncogene may be another target conquered in non‐small cell lung cancer (NSCLC)
Hanxiao Chen, Jun Zhao
Thoracic Cancer.2020; 11(12): 3425. CrossRef
Epidemiologic Features of NSCLC Gene Alterations in Hispanic Patients from Puerto Rico
Ruifang Zheng, Zhiwei Yin, Albert Alhatem, Derek Lyle, Bei You, Andrew S. Jiang, Dongfang Liu, Zsolt Jobbagy, Qing Wang, Seena Aisner, Jie-Gen Jiang
Cancers.2020; 12(12): 3492. CrossRef
Comprehensive pancancer genomic analysis reveals (RTK)-RAS-RAF-MEK as a key dysregulated pathway in cancer: Its clinical implications
Robin Imperial, Omer M Toor, Arif Hussain, Janakiraman Subramanian, Ashiq Masood
Seminars in Cancer Biology.2019; 54: 14. CrossRef
Epidermal growth factor receptor (EGFR), KRAS, and BRAF mutations in lung adenocarcinomas: A study from India
Varsha Singh, Prerna Guleria, Prabhat Singh Malik, Anant Mohan, Sanjay Thulkar, R M Pandey, Kalpana Luthra, Sudheer Arava, Ruma Ray, Deepali Jain
Current Problems in Cancer.2019; 43(5): 391. CrossRef
Clinical Validation of Coexisting Activating Mutations Within EGFR, Mitogen-Activated Protein Kinase, and Phosphatidylinositol 3-Kinase Pathways in Lung Cancers
Federico De Marchi, Lisa Haley, Henderson Fryer, Junaid Ibrahim, Katie Beierl, Gang Zheng, Christopher D. Gocke, James R. Eshleman, Deborah Belchis, Peter Illei, Ming-Tseh Lin
Archives of Pathology & Laboratory Medicine.2019; 143(2): 174. CrossRef
A sequential Monte Carlo algorithm for inference of subclonal structure in cancer
Oyetunji E. Ogundijo, Kaiyi Zhu, Xiaodong Wang, Dimitris Anastassiou, Xiang Li
PLOS ONE.2019; 14(1): e0211213. CrossRef
The Presence of Concomitant Mutations Affects the Activity of EGFR Tyrosine Kinase Inhibitors in EGFR-Mutant Non-Small Cell Lung Cancer (NSCLC) Patients
Anna Rachiglio, Francesca Fenizia, Maria Piccirillo, Domenico Galetta, Lucio Crinò, Bruno Vincenzi, Emiddio Barletta, Carmine Pinto, Francesco Ferraù, Matilde Lambiase, Agnese Montanino, Cristin Roma, Vienna Ludovini, Elisabetta Montagna, Antonella De Luc
Cancers.2019; 11(3): 341. CrossRef
Concurrent Driver Gene Mutations as Negative Predictive Factors in Epidermal Growth Factor Receptor-Positive Non-Small Cell Lung Cancer
Minjiang Chen, Yan Xu, Jing Zhao, Wei Zhong, Li Zhang, Yalan Bi, Mengzhao Wang
EBioMedicine.2019; 42: 304. CrossRef
Anaplastic Lymphoma Kinase (ALK)-positive Tumors
Rohan Gupta, Idoroenyi Amanam, Syed Rahmanuddin, Isa Mambetsariev, Yingyu Wang, Charity Huang, Karen Reckamp, Lalit Vora, Ravi Salgia
American Journal of Clinical Oncology.2019; 42(4): 337. CrossRef
Clinical features and therapeutic options in non‐small cell lung cancer patients with concomitant mutations of EGFR, ALK, ROS1, KRAS or BRAF
Xibin Zhuang, Chao Zhao, Jiayu Li, Chunxia Su, Xiaoxia Chen, Shengxiang Ren, Xuefei Li, Caicun Zhou
Cancer Medicine.2019; 8(6): 2858. CrossRef
Intrinsic resistance to EGFR-Tyrosine Kinase Inhibitors in EGFR-Mutant Non-Small Cell Lung Cancer: Differences and Similarities with Acquired Resistance
Santoni-Rugiu, Melchior, Urbanska, Jakobsen, Stricker, Grauslund, Sørensen
Cancers.2019; 11(7): 923. CrossRef
Clinical outcome of treatment of metastatic non-small cell lung cancer in patients harboring uncommon EGFR mutation
J. Chantharasamee, N. Poungvarin, P. Danchaivijitr, S. Techawatanawanna
BMC Cancer.2019;[Epub] CrossRef
Deregulated lncRNA expression profile in the mouse lung adenocarcinomas with KRAS‐G12D mutation and P53 knockout
Meiqin Zhang, Nan Jiang, Renjie Cui, Sichen Du, Huayuan Ou, Tinglan Chen, Runsheng Ge, Duan Ma, Jin Zhang
Journal of Cellular and Molecular Medicine.2019; 23(10): 6978. CrossRef
Open-Sourced CIViC Annotation Pipeline to Identify and Annotate Clinically Relevant Variants Using Single-Molecule Molecular Inversion Probes
Erica K. Barnell, Adam Waalkes, Matt C. Mosior, Kelsi Penewit, Kelsy C. Cotto, Arpad M. Danos, Lana M. Sheta, Katie M. Campbell, Kilannin Krysiak, Damian Rieke, Nicholas C. Spies, Zachary L. Skidmore, Colin C. Pritchard, Todd A. Fehniger, Ravindra Uppalur
JCO Clinical Cancer Informatics.2019; (3): 1. CrossRef
EGFR, KRAS, BRAF, ALK, and cMET genetic alterations in 1440 Sardinian patients with lung adenocarcinoma
Maria Colombino, Panagiotis Paliogiannis, Antonio Cossu, Davide Adriano Santeufemia, Maria Cristina Sini, Milena Casula, Grazia Palomba, Antonella Manca, Marina Pisano, Valentina Doneddu, Giuseppe Palmieri
BMC Pulmonary Medicine.2019;[Epub] CrossRef
Concomitant Presence of EGFR and ALK Fusion Gene Mutation in Adenocarcinoma of Lung: A Case Report and Review of the Literature
Nishitha Thumallapally, Hana Yu, Mohammad Farhan, Uroosa Ibrahim, Maricel Odiami
Journal of Pharmacy Practice.2018; 31(2): 244. CrossRef
Double Trouble: A Case Series on Concomitant Genetic Aberrations in NSCLC
Nele Van Der Steen, Yves Mentens, Marc Ramael, Leticia G. Leon, Paul Germonpré, Jose Ferri, David R. Gandara, Elisa Giovannetti, Godefridus J. Peters, Patrick Pauwels, Christian Rolfo
Clinical Lung Cancer.2018; 19(1): 35. CrossRef
KRAS oncogene in non-small cell lung cancer: clinical perspectives on the treatment of an old target
Marta Román, Iosune Baraibar, Inés López, Ernest Nadal, Christian Rolfo, Silvestre Vicent, Ignacio Gil-Bazo
Molecular Cancer.2018;[Epub] CrossRef
Pulmonary Adenocarcinoma, Harboring Both an EGFR Mutation and ALK Rearrangement, Presenting a Stable Disease to Erlotinib and a Partial Response to Alectinib
Akira Yokoyama, Atsuhisa Tamura, Kazuko Miyakawa, Kei Kusaka, Masahiro Shimada, Takashi Hirose, Hirotoshi Matsui, Masashi Kitani, Akira Hebisawa, Ken Ohta
Internal Medicine.2018; 57(16): 2377. CrossRef
Long-term survival with erlotinib in advanced lung adenocarcinoma harboring synchronous EGFR G719S and KRAS G12C mutations
Biagio Ricciuti, Sara Baglivo, Vienna Ludovini, Angelo Sidoni, Giulio Metro, Marta Brambilla, Annamaria Siggillino, Maria Sole Reda, Alberto Rebonato, Daniele Maiettini, Rita Chiari
Lung Cancer.2018; 120: 70. CrossRef
Concomitant driver mutations in advanced EGFR-mutated non-small-cell lung cancer and their impact on erlotinib treatment
Jan Nyrop Jakobsen, Eric Santoni-Rugiu, Morten Grauslund, Linea Melchior, Jens Benn Sørensen
Oncotarget.2018; 9(40): 26195. CrossRef
Implications of KRAS mutations in acquired resistance to treatment in NSCLC
Marzia Del Re, Eleonora Rofi, Giuliana Restante, Stefania Crucitta, Elena Arrigoni, Stefano Fogli, Massimo Di Maio, Iacopo Petrini, Romano Danesi
Oncotarget.2018; 9(5): 6630. CrossRef
Alk Immunohistochemistry is Highly Sensitive and Specific for the Detection of Alk Translocated Lung Adenocarcinomas: Lessons from An Audit of Lung Cancer Molecular Testing
YC Kheng, K Walsh, L Williams, WA Wallace, DJ Harrison, A Oniscu
Journal of the Royal College of Physicians of Edinburgh.2018; 48(1): 20. CrossRef
Targeting KRAS mutated non-small cell lung cancer: A history of failures and a future of hope for a diverse entity
Alexios Matikas, Dimitrios Mistriotis, Vasilios Georgoulias, Athanasios Kotsakis
Critical Reviews in Oncology/Hematology.2017; 110: 1. CrossRef
Clinical Outcome of ALK -Positive Non–Small Cell Lung Cancer (NSCLC) Patients with De Novo EGFR or KRAS Co-Mutations Receiving Tyrosine Kinase Inhibitors (TKIs)
Sabine Schmid, Oliver Gautschi, Sacha Rothschild, Michael Mark, Patrizia Froesch, Dirk Klingbiel, Hermann Reichegger, Wolfram Jochum, Joachim Diebold, Martin Früh
Journal of Thoracic Oncology.2017; 12(4): 681. CrossRef
EGFR and KRAS molecular genotyping for pulmonary carcinomas: Feasibility of a simple and rapid technique implementable in any department of pathology
Vincent Thomas De Montpréville, Maria-Rosa Ghigna, Ludovic Lacroix, Antoinette Lemoine, Benjamin Besse, Olaf Mercier, Élie Fadel, Peter Dorfmuller, Thierry Le Chevalier
Pathology - Research and Practice.2017; 213(7): 793. CrossRef
MET Exon 14 Skipping Mutations in Lung Adenocarcinoma: Clinicopathologic Implications and Prognostic Values
Geun Dong Lee, Seung Eun Lee, Doo-Yi Oh, Dan-bi Yu, Hae Min Jeong, Jooseok Kim, Sungyoul Hong, Hun Soon Jung, Ensel Oh, Ji-Young Song, Mi-Sook Lee, Mingi Kim, Kyungsoo Jung, Jhingook Kim, Young Kee Shin, Yoon-La Choi, Hyeong Ryul Kim
Journal of Thoracic Oncology.2017; 12(8): 1233. CrossRef
Non-Small-Cell Lung Cancer (NSCLC) Harboring ALK Translocations: Clinical Characteristics and Management in a Real-Life Setting: a French Retrospective Analysis (GFPC 02–14 Study)
Jean-Bernard Auliac, Isabelle Monnet, Catherine Dubos-Arvis, Anne Marie Chiappa, Nathalie Baize, Suzana Bota, Alain Vergnenegre, Helene Doubre, Chrystele Locher, Acya Bizieux, Gilles Robinet, Christos Chouaid
Targeted Oncology.2017; 12(6): 833. CrossRef
Concomitant EML4-ALK rearrangement and EGFR mutation in non-small cell lung cancer patients: a literature review of 100 cases
Giuseppe Lo Russo, Martina Imbimbo, Giulia Corrao, Claudia Proto, Diego Signorelli, Milena Vitali, Monica Ganzinelli, Laura Botta, Nicoletta Zilembo, Filippo de Braud, Marina Chiara Garassino
Oncotarget.2017; 8(35): 59889. CrossRef
Management of non-small cell lung cancer in the era of personalized medicine
Gaetano Rocco, Alessandro Morabito, Alessandra Leone, Paolo Muto, Francesco Fiore, Alfredo Budillon
The International Journal of Biochemistry & Cell Biology.2016; 78: 173. CrossRef
A long-term survivor of non-small-cell lung cancer harboring concomitant EGFR mutation and ALK translocation
Fumio Imamura, Takako Inoue, Madoka Kimura, Kazumi Nishino, Toru Kumagai
Respiratory Medicine Case Reports.2016; 19: 137. CrossRef

Analysis of Histologic Features Suspecting Anaplastic Lymphoma Kinase (ALK)-Expressing Pulmonary Adenocarcinoma: In Ho Choi, Dong Won Kim, Sang Yun Ha, Yoon-La Choi, Hee Jeong Lee, Joungho Han; J Pathol Transl Med. 2015;49(4):310-317. Published online June 22, 2015; DOI: https://doi.org/10.4132/jptm.2015.05.13

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Abstract PDF

Background
Since 2007 when anaplastic lymphoma kinase (ALK) rearrangements were discovered in non-small cell lung cancer, the ALK gene has received attention due to ALK-targeted therapy, and a notable treatment advantage has been observed in patients harboring the EML4/ALK translocation. However, using ALK-fluorescence in situ hybridization (FISH) as the standard method has demerits such as high cost, a time-consuming process, dependency on interpretation skill, and tissue preparation. We analyzed the histologic findings which could complement the limitation of ALK-FISH test for pulmonary adenocarcinoma. Methods: Two hundred five cases of ALK-positive and 101 of ALK-negative pulmonary adenocarcinoma from January 2007 to May 2013 were enrolled in this study. The histologic findings and ALK immunohistochemistry results were reviewed and compared with the results of ALK-FISH and EGFR/KRAS mutation status. Results: Acinar, cribriform, and solid growth patterns, extracellular and intracellular mucin production, and presence of signet-ring-cell element, and psammoma body were significantly more often present in ALK-positive cancer. In addition, the presence of goblet cell-like cells and presence of nuclear inclusion and groove resembling papillary thyroid carcinoma were common in the ALK-positive group. Conclusions: The above histologic parameters can be helpful in predicting ALK rearranged pulmonary adenocarcinoma, leading to rapid FISH analysis and timely treatment.

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Clinicopathological features and prognostic significance of pulmonary adenocarcinoma with signet ring cell components: meta-analysis and SEER analysis
Yang Tan, Ying-he Huang, Jia-wen Xue, Rui Zhang, Run Liu, Yan Wang, Zhen-Bo Feng
Clinical and Experimental Medicine.2023; 23(8): 4341. CrossRef
Lung-Cancer Risk in Mice after Exposure to Gamma Rays, Carbon Ions or Neutrons: Egfr Pathway Activation and Frequent Nuclear Abnormality
Kenshi Suzuki, Shunsuke Yamazaki, Ken-ichi Iwata, Yutaka Yamada, Takamitsu Morioka, Kazuhiro Daino, Mutsumi Kaminishi, Mari Ogawa, Yoshiya Shimada, Shizuko Kakinuma
Radiation Research.2022;[Epub] CrossRef
Pathological cytomorphologic features and the percentage of ALK FISH-positive cells predict pulmonary adenocarcinoma prognosis: a prospective cohort study
Fenge Jiang, Congcong Wang, Ping Yang, Ping Sun, Jiannan Liu
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Cribriform pattern in lung invasive adenocarcinoma correlates with poor prognosis in a Chinese cohort
Yang Qu, Haifeng Lin, Chen Zhang, Kun Li, Haiqing Zhang
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Incidence of brain metastasis in lung adenocarcinoma at initial diagnosis on the basis of stage and genetic alterations
Bumhee Yang, Hyun Lee, Sang-Won Um, Kyunga Kim, Jae Il Zo, Young Mog Shim, O Jung Kwon, Kyung Soo Lee, Myung-Ju Ahn, Hojoong Kim
Lung Cancer.2019; 129: 28. CrossRef
Qualitative and quantitative cytomorphological features of primary anaplastic lymphoma kinase‐positive lung cancer
Ryuko Tsukamoto, Hiroyuki Ohsaki, Sho Hosokawa, Yasunori Tokuhara, Shingo Kamoshida, Toshiko Sakuma, Tomoo Itoh, Chiho Ohbayashi
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Nele Van Der Steen, Yves Mentens, Marc Ramael, Leticia G. Leon, Paul Germonpré, Jose Ferri, David R. Gandara, Elisa Giovannetti, Godefridus J. Peters, Patrick Pauwels, Christian Rolfo
Clinical Lung Cancer.2018; 19(1): 35. CrossRef
Update on the potential significance of psammoma bodies in lung adenocarcinoma from a modern perspective
Akio Miyake, Koji Okudela, Mai Matsumura, Mitsui Hideaki, Hiromasa Arai, Shigeaki Umeda, Shoji Yamanaka, Yoshihiro Ishikawa, Michihiko Tajiri, Kenichi Ohashi
Histopathology.2018; 72(4): 609. CrossRef
Integrin β3 Inhibition Enhances the Antitumor Activity of ALK Inhibitor in ALK-Rearranged NSCLC
Ka-Won Noh, Insuk Sohn, Ji-Young Song, Hyun-Tae Shin, Yu-Jin Kim, Kyungsoo Jung, Minjung Sung, Mingi Kim, Sungbin An, Joungho Han, Se-Hoon Lee, Mi-Sook Lee, Yoon-La Choi
Clinical Cancer Research.2018; 24(17): 4162. CrossRef
An anaplastic lymphoma kinase-positive lung cancer microlesion: A case report
Tetsuo Kon, Youichiro Baba, Ichiro Fukai, Gen Watanabe, Tomoko Uchiyama, Tetsuya Murata
Human Pathology: Case Reports.2017; 7: 11. CrossRef
The prevalence of ALK rearrangement in pulmonary adenocarcinomas in an unselected Caucasian population from a defined catchment area: impact of smoking
Birgit G Skov, Paul Clementsen, Klaus R Larsen, Jens B Sørensen, Anders Mellemgaard
Histopathology.2017; 70(6): 889. CrossRef
Ciliated muconodular papillary tumor of the lung harboring ALK gene rearrangement: Case report and review of the literature
Yan Jin, Xuxia Shen, Lei Shen, Yihua Sun, Haiquan Chen, Yuan Li
Pathology International.2017; 67(3): 171. CrossRef
Molecular breakdown: a comprehensive view of anaplastic lymphoma kinase (ALK)‐rearranged non‐small cell lung cancer
Ka‐Won Noh, Mi‐Sook Lee, Seung Eun Lee, Ji‐Young Song, Hyun‐Tae Shin, Yu Jin Kim, Doo Yi Oh, Kyungsoo Jung, Minjung Sung, Mingi Kim, Sungbin An, Joungho Han, Young Mog Shim, Jae Ill Zo, Jhingook Kim, Woong‐Yang Park, Se‐Hoon Lee, Yoon‐La Choi
The Journal of Pathology.2017; 243(3): 307. CrossRef
Anaplastic lymphoma kinase immunohistochemistry in lung adenocarcinomas: Evaluation of performance of standard manual method using D5F3 antibody
D Jain, K Jangra, PS Malik, S Arulselvi, K Madan, S Mathur, MC Sharma
Indian Journal of Cancer.2017; 54(1): 209. CrossRef
Clinicopathological Features and Therapeutic Responses of Chinese Patients with Advanced Lung Adenocarcinoma Harboring an Anaplastic Lymphoma Kinase Rearrangement
Danxia Lin, De Zeng, Chen Chen, Xiao Wu, Miaojun Wang, Jiongyu Chen, Hui Lin, Xihui Qiu
Oncology Research and Treatment.2017; 40(1-2): 27. CrossRef
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Patrizia Viola, Manisha Maurya, James Croud, Jana Gazdova, Nadia Suleman, Eric Lim, Tom Newsom-Davis, Nick Plowman, Alexandra Rice, M. Angeles Montero, David Gonzalez de Castro, Sanjay Popat, Andrew G. Nicholson
Journal of Thoracic Oncology.2016; 11(7): 1029. CrossRef
Non-small Cell Lung Cancer with Concomitant EGFR, KRAS, and ALK Mutation: Clinicopathologic Features of 12 Cases
Taebum Lee, Boram Lee, Yoon-La Choi, Joungho Han, Myung-Ju Ahn, Sang-Won Um
Journal of Pathology and Translational Medicine.2016; 50(3): 197. CrossRef
ALK gene rearranged lung adenocarcinomas: molecular genetics and morphology in cohort of patients from North India
Amanjit Bal, Navneet Singh, Parimal Agarwal, Ashim Das, Digambar Behera
APMIS.2016; 124(10): 832. CrossRef

Extrapulmonary Lymphangioleiomyoma: Clinicopathological Analysis of 4 Cases: Dae Hyun Song, In Ho Choi, Sang Yun Ha, Kang Min Han, Jae Jun Lee, Min Eui Hong, Yoon-La Choi, Kee-Taek Jang, Sang Yong Song, Chin A Yi, Joungho Han; Korean J Pathol. 2014;48(3):188-192. Published online June 26, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.3.188

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Abstract PDF

Background

Lymphangioleiomyomatosis (LAM) is a slowly progressive neoplastic disease that predominantly affects females. Usually, LAM affects the lung; it can also affect extrapulmonary sites, such as the mediastinum, the retroperitoneum, or the lymph nodes, although these locations are rare. A localized form of LAM can manifest as extrapulmonary lesions; this form is referred to as extrapulmonary lymphangioleiomyoma (E-LAM). Due to the rare occurrence of E-LAM and its variable, atypical location, E-LAM is often difficult to diagnose. Herein, we report the clinicopathological information from four E-LAM cases, and also review previous articles investigating this disease.

Methods

Four patients with E-LAM were identified at the Samsung Medical Center (Seoul, Korea) from 1995 to 2012. All E-LAM lesions underwent surgical excision.

Results

All patients were females within the age range of 43 to 47 years. Two patients had para-aortic retroperitoneal masses, while the other two patients had pelvic lesions; two out of the four patients also had accompanying pulmonary LAM. In addition, no patient displayed any evidence of tuberous sclerosis. Histologically, two patients exhibited nuclear atypism with cytologic degeneration.

Conclusions

E-LAM should be considered in the differential diagnosis of patients presenting with pelvic or para-aortic masses. We also conclude that further clinical and pathological evaluation is needed in patients with E-LAM and nuclear atypism.

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Lymphangioleiomyomatosis with Tuberous Sclerosis Complex—A Case Study
Aleksandra Marciniak, Jolanta Nawrocka-Rutkowska, Agnieszka Brodowska, Andrzej Starczewski, Iwona Szydłowska
Journal of Personalized Medicine.2023; 13(11): 1598. CrossRef
A case of lymphangioleiomyomatosis with endometrial cancer diagnosed by retroperitoneoscopic para-aortic lymph node dissection
Aiko Ogasawara, Shogo Yamaguchi, Hiroaki Inui, Mieko Hanaoka, Daisuke Shintani, Sho Sato, Masanori Yasuda, Akira Yabuno
JAPANESE JOURNAL OF GYNECOLOGIC AND OBSTETRIC ENDOSCOPY.2022; 38(1): 158. CrossRef
Primary retroperitoneal PEComa: an incidental finding
Bárbara Monteiro Marinho, António Gâmboa Canha, Donzília Sousa Silva, José Davide Pinto Silva
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Imaging Findings of Thoracic Lymphatic Abnormalities
Jingshuo (Derek) Sun, Thomas Shum, Fardad Behzadi, Mark M. Hammer
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Extrapulmonary uterine lymphangioleiomyomatosis (LAM) and dysfunctional uterine bleeding: the first presentation of LAM in a tuberous sclerosis complex patient
Lucy Grant, Saliya Chipwete, San Soo Hoo, Anjali Bhatnagar
BMJ Case Reports.2019; 12(2): e226358. CrossRef
Summary of the Japanese Respiratory Society statement for the treatment of lung cancer with comorbid interstitial pneumonia
Takashi Ogura, Nagio Takigawa, Keisuke Tomii, Kazuma Kishi, Yoshikazu Inoue, Eiki Ichihara, Sakae Homma, Kazuhisa Takahashi, Hiroaki Akamatsu, Satoshi Ikeda, Naohiko Inase, Tae Iwasawa, Yuichiro Ohe, Hiromitsu Ohta, Hiroshi Onishi, Isamu Okamoto, Kazumasa
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Incidental lymphangioleiomyomatosis in the lymph nodes of gynecologic surgical specimens
Ikumi Kuno, Hiroshi Yoshida, Hanako Shimizu, Takashi Uehara, Masaya Uno, Mitsuya Ishikawa, Tomoyasu Kato
European Journal of Obstetrics & Gynecology and Reproductive Biology.2018; 231: 93. CrossRef
Solitary extrapulmonary lymphangioleiomyomatosis of the liver: A case report and literature review
Weiwei Fu, Yujun Li, Hong Li, Ping Yang, Xiaoming Xing
Experimental and Therapeutic Medicine.2016; 12(3): 1499. CrossRef
Incidental Pelvic and Para-aortic Lymph Node Lymphangioleiomyomatosis Detected During Surgical Staging of Pelvic Cancer in Women Without Symptomatic Pulmonary Lymphangioleiomyomatosis or Tuberous Sclerosis Complex
Joseph T. Rabban, Brandie Firetag, Ankur R. Sangoi, Miriam D. Post, Charles J. Zaloudek
American Journal of Surgical Pathology.2015; 39(8): 1015. CrossRef

KRAS Mutation Detection in Non-small Cell Lung Cancer Using a Peptide Nucleic Acid-Mediated Polymerase Chain Reaction Clamping Method and Comparative Validation with Next-Generation Sequencing: Boram Lee, Boin Lee, Gangmin Han, Mi Jung Kwon, Joungho Han, Yoon-La Choi; Korean J Pathol. 2014;48(2):100-107. Published online April 28, 2014; DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.2.100

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Abstract PDF

Background

KRAS is one of commonly mutated genetic "drivers" in non-small cell lung cancers (NSCLCs). Recent studies indicate that patients with KRAS-mutated tumors do not benefit from adjuvant chemotherapy, so there is now a focus on targeting KRAS-mutated NSCLCs. A feasible mutation detection method is required in order to accurately test for KRAS status.

Methods

We compared direct Sanger sequencing and the peptide nucleic acid (PNA)-mediated polymerase chain reaction (PCR) clamping method in 134 NSCLCs and explored associations with clinicopathological factors. Next-generation sequencing (NGS) was used to validate the results of discordant cases. To increase the resolution of low-level somatic mutant molecules, PNA-mediated PCR clamping was used for mutant enrichment prior to NGS.

Results

Twenty-one (15.7%) cases were found to have the KRAS mutations using direct sequencing, with two additional cases by the PNA-mediated PCR clamping method. The frequencies of KRAS mutant alleles were 2% and 4%, respectively, using conventional NGS, increasing up to 90% and 89%, using mutant-enriched NGS. The KRAS mutation occurs more frequently in the tumors of smokers (p=.012) and in stage IV tumors (p=.032).

Conclusions

Direct sequencing can accurately detect mutations, but, it is not always possible to obtain a tumor sample with sufficient volume. The PNA-mediated PCR clamping can rapidly provide results with sufficient sensitivity.

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Ullas Batra, Shrinidhi Nathany, Mansi Sharma, Amrith BP, Joslia T. Jose, Harkirat Singh, Sakshi Mattoo, Anurag Mehta
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Jianping Xu, Yue Pu, Rui Lin, Shanshan Xiao, Yingxue Fu, Tao Wang
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Potential applications of peptide nucleic acid in biomedical domain
Kshitij RB Singh, Parikipandla Sridevi, Ravindra Pratap Singh
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Jung-Young Shin, Jeong-Oh Kim, Mi-Ran Lee, Seo Ree Kim, Kyongmin Sarah Beck, Jin Hyoung Kang
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Lee, Kim, Sung, Lee, Han, Kim, Choi
International Journal of Molecular Sciences.2019; 20(19): 4794. CrossRef
Peptide Nucleic Acid Clamping and Direct Sequencing in the Detection of Oncogenic Alterations in Lung Cancer: Systematic Review and Meta-Analysis
Jae-Uk Song, Jonghoo Lee
Yonsei Medical Journal.2018; 59(2): 211. CrossRef
Comparative analysis of Adam33 mutations in murine lung cancer cell lines by droplet digital PCR, real-time PCR and Insight Onco™ NGS
Soo-Jin Kim, Eunhee Kim, Kyung-Taek Rim
Molecular & Cellular Toxicology.2018; 14(2): 221. CrossRef
KRAS mutation analysis by next‐generation sequencing in endoscopic ultrasound‐guided sampling for solid liver masses
Hyun Jong Choi, Jong Ho Moon, Hee Kyung Kim, Yun Nah Lee, Tae Hoon Lee, Sang‐Woo Cha, Young Deok Cho, Sang‐Heum Park
Journal of Gastroenterology and Hepatology.2017; 32(1): 154. CrossRef
Molecular Testing of Lung Cancers
Hyo Sup Shim, Yoon-La Choi, Lucia Kim, Sunhee Chang, Wan-Seop Kim, Mee Sook Roh, Tae-Jung Kim, Seung Yeon Ha, Jin-Haeng Chung, Se Jin Jang, Geon Kook Lee
Journal of Pathology and Translational Medicine.2017; 51(3): 242. CrossRef
Peptide nucleic acids: Advanced tools for biomedical applications
Anjali Gupta, Anuradha Mishra, Nidhi Puri
Journal of Biotechnology.2017; 259: 148. CrossRef
Application of Peptide Nucleic Acid-based Assays Toward Detection of Somatic Mosaicism
Christopher S Hong, Chunzhang Yang, Zhengping Zhuang
Molecular Therapy - Nucleic Acids.2016; 5: e314. CrossRef
Detecting Primary KIT Mutations in Presurgical Plasma of Patients with Gastrointestinal Stromal Tumor
Guhyun Kang, Byeong Seok Sohn, Jung-Soo Pyo, Jung Yeon Kim, Boram Lee, Kyoung-Mee Kim
Molecular Diagnosis & Therapy.2016; 20(4): 347. CrossRef
Transformation to Small Cell Lung Cancer of Pulmonary Adenocarcinoma: Clinicopathologic Analysis of Six Cases
Soomin Ahn, Soo Hyun Hwang, Joungho Han, Yoon-La Choi, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Myung-Ju Ahn, Woong-Yang Park
Journal of Pathology and Translational Medicine.2016; 50(4): 258. CrossRef
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Boram Lee, Taebum Lee, Se-Hoon Lee, Yoon-La Choi, Joungho Han
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Guhyun Kang, Byung Noe Bae, Byeong Seok Sohn, Jung-Soo Pyo, Gu Hyum Kang, Kyoung-Mee Kim
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Comparison of Three BRAF Mutation Tests in Formalin-Fixed Paraffin Embedded Clinical Samples: Soomin Ahn, Jeeyun Lee, Ji-Youn Sung, So Young Kang, Sang Yun Ha, Kee-Taek Jang, Yoon-La Choi, Jung-Sun Kim, Young Lyun Oh, Kyoung-Mee Kim; Korean J Pathol. 2013;47(4):348-354. Published online August 26, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.348

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Abstract PDF

Background

Recently, BRAF inhibitors showed dramatic treatment outcomes in BRAF V600 mutant melanoma. Therefore, the accuracy of BRAF mutation test is critical.

Methods

BRAF mutations were tested by dual-priming oligonucleotide-polymerase chain reaction (DPO-PCR), direct sequencing and subsequently retested with a real-time PCR assay, cobas 4800 V600 mutation test. In total, 64 tumors including 34 malignant melanomas and 16 papillary thyroid carcinomas were analyzed. DNA was extracted from formalin-fixed paraffin embedded tissue samples and the results of cobas test were directly compared with those of DPO-PCR and direct sequencing.

Results

BRAF mutations were found in 23 of 64 (35.9%) tumors. There was 9.4% discordance among 3 methods. Out of 6 discordant cases, 4 cases were melanomas; 3 cases were BRAF V600E detected only by cobas test, but were not detected by DPO-PCR and direct sequencing. One melanoma patient with BRAF mutation detected only by cobas test has been on vemurafenib treatment for 6 months and showed a dramatic response to vemurafenib. DPO-PCR failed to detect V600K mutation in one case identified by both direct sequencing and cobas test.

Conclusions

In direct comparison of the currently available DPO-PCR, direct sequencing and real-time cobas test for BRAF mutation, real-time PCR assay is the most sensitive method.

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A new primer construction technique that effectively increases amplification of rare mutant templates in samples
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BMC Biotechnology.2019;[Epub] CrossRef
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Pathology - Research and Practice.2019; 215(12): 152671. CrossRef
The association between dermoscopic features and BRAF mutational status in cutaneous melanoma: Significance of the blue-white veil
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Anne Reiman, Hugh Kikuchi, Daniela Scocchia, Peter Smith, Yee Wah Tsang, David Snead, Ian A Cree
BMC Cancer.2017;[Epub] CrossRef
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Soomin Ahn, Soo Hyun Hwang, Joungho Han, Yoon-La Choi, Se-Hoon Lee, Jin Seok Ahn, Keunchil Park, Myung-Ju Ahn, Woong-Yang Park
Journal of Pathology and Translational Medicine.2016; 50(4): 258. CrossRef
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Pathology.2014; 46(6): 509. CrossRef

Case Study

Peripheral Primitive Neuroectodermal Tumor with Osseous Component of the Small Bowel Mesentery: A Case Study: Joon Mee Kim, Young Chae Chu, Chang Hwan Choi, Lucia Kim, Suk Jin Choi, In Suh Park, Jee Young Han, Kyung Rae Kim, Yoon-La Choi, Taeeun Kim; Korean J Pathol. 2013;47(1):77-81. Published online February 25, 2013; DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.1.77

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Abstract PDF

A case of peripheral primitive neuroectodermal tumor of the small bowel mesentery with osseous component is reported. A 23-year-old man was admitted to our hospital because of acute severe abdominal pain. Abdominal computed tomography revealed a large solid and cystic, oval shaped mass, measuring 11.0×6.0 cm in the pelvic cavity. Histologically the resected lesion consisted of sheets of undifferentiated small round cells forming Homer-Wright rosettes and perivascular pseudorosettes, and showed areas of osteoid and bone formation. Immunohistochemical studies revealed that tumor cells expressed positivity against CD99 (MIC2), CD57, neuron-specific enolase, and vimentin. Fluorescence in situ hybridization study revealed Ewing sarcoma breakpoint region 1 (EWSR1) gene rearrangement on chromosome 22q12. To the authors' knowledge this is the first documentation of a peripheral neuroectodermal tumor with osteoid and bone formation of the small bowel mesentery.

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Surgical Practice.2018; 22(2): 84. CrossRef
Pediatric Ewing’s Sarcoma/Primitive Neuroectodermal Tumor (ES/PNET) Developed in the Small Intestine: A Case Report
You Sun Kim, Hye Min Moon, Kyu Sang Lee, Young Suk Park, Hyun-Young Kim, Ji Young Kim, Jin Min Cho, Hyoung Soo Choi
Clinical Pediatric Hematology-Oncology.2017; 24(2): 162. CrossRef
Huge peripheral primitive neuroectodermal tumor of the small bowel mesentery at nonage: A case report and review of the literature
Zhe Liu, Yuan-Hong Xu, Chun-Lin Ge, Jin Long, Rui-Xia Du, Ke-Jian Guo
World Journal of Clinical Cases.2016; 4(9): 306. CrossRef
Primary primitive neuroectodermal tumor arising in the mesentery and ileocecum: A report of three cases and review of the literature
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