- Usefulness of BRAF VE1 immunohistochemistry in non–small cell lung cancers: a multi-institutional study by 15 pathologists in Korea
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Sunhee Chang, Yoon-La Choi, Hyo Sup Shim, Geon Kook Lee, Seung Yeon Ha
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J Pathol Transl Med. 2022;56(6):334-341. Published online October 27, 2022
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DOI: https://doi.org/10.4132/jptm.2022.08.22
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Abstract
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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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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; 484(4): 645. 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
- Molecular biomarker testing for non–small cell lung cancer: consensus statement of the Korean Cardiopulmonary Pathology Study Group
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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
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J Pathol Transl Med. 2021;55(3):181-191. Published online May 11, 2021
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DOI: https://doi.org/10.4132/jptm.2021.03.23
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7,906
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Abstract
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- 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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Adam Szpechcinski, Joanna Moes-Sosnowska, Paulina Skronska, Urszula Lechowicz, Magdalena Pelc, Malgorzata Szolkowska, Piotr Rudzinski, Emil Wojda, Krystyna Maszkowska-Kopij, Renata Langfort, Tadeusz Orlowski, Pawel Sliwinski, Mateusz Polaczek, Joanna Chor International Journal of Molecular Sciences.2024; 25(14): 7908. CrossRef - Cost-effectiveness of next-generation sequencing for advanced EGFR/ALK-negative non-small cell lung cancer
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Yurimi Lee, Kiyong Na, Ha Young Woo, Hyun-Soo Kim Diagnostics.2022; 12(5): 1102. CrossRef - Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing
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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
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Sunhee Chang, Jae Young Hur, Yoon-La Choi, Chang Hun Lee, Wan Seop Kim
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J Pathol Transl Med. 2020;54(3):204-212. Published online April 15, 2020
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DOI: https://doi.org/10.4132/jptm.2020.02.27
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- 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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- Interobserver Reproducibility of PD-L1 Biomarker in Non-small Cell Lung Cancer: A Multi-Institutional Study by 27 Pathologists
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Sunhee Chang, Hyung Kyu Park, Yoon-La Choi, Se Jin Jang
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J Pathol Transl Med. 2019;53(6):347-353. Published online October 28, 2019
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DOI: https://doi.org/10.4132/jptm.2019.09.29
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Abstract
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- 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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- Abrupt Dyskeratotic and Squamoid Cells in Poorly Differentiated Carcinoma: Case Study of Two Thoracic NUT Midline Carcinomas with Cytohistologic Correlation
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Taebum Lee, Sangjoon Choi, Joungho Han, Yoon-La Choi, Kyungjong Lee
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J Pathol Transl Med. 2018;52(5):349-353. Published online July 27, 2018
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DOI: https://doi.org/10.4132/jptm.2018.07.16
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- 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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- Metastatic Squamous Cell Carcinoma from Lung Adenocarcinoma after Epidermal Growth Factor Receptor Tyrosine Kinase Inhibitor Therapy
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Hyung Kyu Park, Youjeong Seo, Yoon-La Choi, Myung-Ju Ahn, Joungho Han
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J Pathol Transl Med. 2017;51(4):441-443. Published online April 4, 2017
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DOI: https://doi.org/10.4132/jptm.2016.10.18
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Jin-Dong Li, Cheng-Yan Jin, Yan Zhang, Hang Guo, Guang-Lei Zhang, Chun-Guang Wang 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
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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
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J Pathol Transl Med. 2017;51(3):242-254. Published online April 21, 2017
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DOI: https://doi.org/10.4132/jptm.2017.04.10
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16,007
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27
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Abstract
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- 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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A. F. Nasretdinov, A. V. Sultanbaev, Sh. I. Musin, K. V. Menshikov, R. T. Ayupov, A. A. Izmailov, G. A. Serebrennikov, V. E. Askarov, D. V. Feoktistov Meditsinskiy sovet = Medical Council.2024; (10): 74. CrossRef - Cost-effectiveness of next-generation sequencing for advanced EGFR/ALK-negative non-small cell lung cancer
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Romain Larrue, Sandy Fellah, Nihad Boukrout, Corentin De Sousa, Julie Lemaire, Carolane Leboeuf, Marine Goujon, Michael Perrais, Bernard Mari, Christelle Cauffiez, Nicolas Pottier, Cynthia Van der Hauwaert Cell Death & Disease.2023;[Epub] CrossRef - Diagnostic Approach of Lung Cancer: A Literature Review
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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
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J Pathol Transl Med. 2017;51(3):191-204. Published online May 10, 2017
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DOI: https://doi.org/10.4132/jptm.2017.03.14
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24,775
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- 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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- Transformation to Small Cell Lung Cancer of Pulmonary Adenocarcinoma: Clinicopathologic Analysis of Six Cases
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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
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J Pathol Transl Med. 2016;50(4):258-263. Published online May 10, 2016
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DOI: https://doi.org/10.4132/jptm.2016.04.19
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Abstract
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- 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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- Non-small Cell Lung Cancer with Concomitant EGFR, KRAS, and ALK Mutation: Clinicopathologic Features of 12 Cases
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Taebum Lee, Boram Lee, Yoon-La Choi, Joungho Han, Myung-Ju Ahn, Sang-Won Um
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J Pathol Transl Med. 2016;50(3):197-203. Published online April 18, 2016
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DOI: https://doi.org/10.4132/jptm.2016.03.09
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Abstract
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- 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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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
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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
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- Analysis of Histologic Features Suspecting Anaplastic Lymphoma Kinase (ALK)-Expressing Pulmonary Adenocarcinoma
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In Ho Choi, Dong Won Kim, Sang Yun Ha, Yoon-La Choi, Hee Jeong Lee, Joungho Han
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J Pathol Transl Med. 2015;49(4):310-317. Published online June 22, 2015
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DOI: https://doi.org/10.4132/jptm.2015.05.13
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Abstract
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- 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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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 World Journal of Surgical Oncology.2021;[Epub] CrossRef - Cribriform pattern in lung invasive adenocarcinoma correlates with poor prognosis in a Chinese cohort
Yang Qu, Haifeng Lin, Chen Zhang, Kun Li, Haiqing Zhang Pathology - Research and Practice.2019; 215(2): 347. CrossRef - 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 Cytopathology.2019; 30(3): 295. 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 - 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
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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 - A Validation Study for the Use of ROS1 Immunohistochemical Staining in Screening for ROS1 Translocations in Lung Cancer
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
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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
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Korean J Pathol. 2014;48(3):188-192. Published online June 26, 2014
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DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.3.188
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Abstract
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- 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. MethodsFour patients with E-LAM were identified at the Samsung Medical Center (Seoul, Korea) from 1995 to 2012. All E-LAM lesions underwent surgical excision. ResultsAll 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. ConclusionsE-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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- Surgical Management of Solitary Extrapulmonary Lymphangioleiomyomatosis in the Mesentery: A Case Report
Jack Menzie, Chih C Kuan, Travis Ackermann, Yeng Kwang Tay Cureus.2024;[Epub] CrossRef - 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 BMJ Case Reports.2022; 15(11): e250466. CrossRef - Imaging Findings of Thoracic Lymphatic Abnormalities
Jingshuo (Derek) Sun, Thomas Shum, Fardad Behzadi, Mark M. Hammer RadioGraphics.2022; 42(5): 1265. CrossRef - 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 Respiratory Investigation.2019; 57(6): 512. CrossRef - 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
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Boram Lee, Boin Lee, Gangmin Han, Mi Jung Kwon, Joungho Han, Yoon-La Choi
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Korean J Pathol. 2014;48(2):100-107. Published online April 28, 2014
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DOI: https://doi.org/10.4132/KoreanJPathol.2014.48.2.100
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Abstract
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- 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. MethodsWe 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. ResultsTwenty-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). ConclusionsDirect 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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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 - Clinicopathologic characteristics of EGFR, KRAS, and ALK alterations in 6,595 lung cancers
Boram Lee, Taebum Lee, Se-Hoon Lee, Yoon-La Choi, Joungho Han Oncotarget.2016; 7(17): 23874. CrossRef - Detection of KIT and PDGFRA mutations in the plasma of patients with gastrointestinal stromal tumor
Guhyun Kang, Byung Noe Bae, Byeong Seok Sohn, Jung-Soo Pyo, Gu Hyum Kang, Kyoung-Mee Kim Targeted Oncology.2015; 10(4): 597. CrossRef - Low Frequency of KRAS Mutation in Pancreatic Ductal Adenocarcinomas in Korean Patients and Its Prognostic Value
Mi Jung Kwon, Jang Yong Jeon, Hye-Rim Park, Eun Sook Nam, Seong Jin Cho, Hyung Sik Shin, Ji Hyun Kwon, Joo Seop Kim, Boram Han, Dong Hoon Kim, Yoon-La Choi Pancreas.2015; 44(3): 484. CrossRef
- Comparison of Three BRAF Mutation Tests in Formalin-Fixed Paraffin Embedded Clinical Samples
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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
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Korean J Pathol. 2013;47(4):348-354. Published online August 26, 2013
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DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.4.348
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- Background
Recently, BRAF inhibitors showed dramatic treatment outcomes in BRAF V600 mutant melanoma. Therefore, the accuracy of BRAF mutation test is critical. MethodsBRAF 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. ResultsBRAF 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. ConclusionsIn 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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Citations
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- Preoperative BRAFV600E mutation detection in thyroid carcinoma by immunocytochemistry
Kristine Zøylner Swan, Stine Horskær Madsen, Steen Joop Bonnema, Viveque Egsgaard Nielsen, Marie Louise Jespersen APMIS.2022; 130(11): 627. CrossRef - Strategy to reduce unnecessary surgeries in thyroid nodules with cytology of Bethesda category III (AUS/FLUS): a retrospective analysis of 667 patients diagnosed by surgery
Yong Joon Suh, Yeon Ju Choi Endocrine.2020; 69(3): 578. CrossRef - A new primer construction technique that effectively increases amplification of rare mutant templates in samples
Jr-Kai Huang, Ling Fan, Tao-Yeuan Wang, Pao-Shu Wu BMC Biotechnology.2019;[Epub] CrossRef - BRAF and NRAS mutations and antitumor immunity in Korean malignant melanomas and their prognostic relevance: Gene set enrichment analysis and CIBERSORT analysis
Kyueng-Whan Min, Ji-Young Choe, Mi Jung Kwon, Hye Kyung Lee, Ho Suk Kang, Eun Sook Nam, Seong Jin Cho, Hye-Rim Park, Soo Kee Min, Jinwon Seo, Yun Joong Kim, Nan Young Kim, Ho Young Kim 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
Miquel Armengot-Carbó, Eduardo Nagore, Zaida García-Casado, Rafael Botella-Estrada Journal of the American Academy of Dermatology.2018; 78(5): 920. CrossRef - Comparison of Five Different Assays for the Detection of BRAF Mutations in Formalin-Fixed Paraffin Embedded Tissues of Patients with Metastatic Melanoma
Claire Franczak, Julia Salleron, Cindy Dubois, Pierre Filhine-Trésarrieu, Agnès Leroux, Jean-Louis Merlin, Alexandre Harlé Molecular Diagnosis & Therapy.2017; 21(2): 209. CrossRef - Validation of an NGS mutation detection panel for melanoma
Anne Reiman, Hugh Kikuchi, Daniela Scocchia, Peter Smith, Yee Wah Tsang, David Snead, Ian A Cree BMC Cancer.2017;[Epub] 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 - Immunohistochemistry with the anti-BRAF V600E (VE1) antibody: impact of pre-analytical conditions and concordance with DNA sequencing in colorectal and papillary thyroid carcinoma
Katerina Dvorak, Birte Aggeler, John Palting, Penny McKelvie, Andrew Ruszkiewicz, Paul Waring Pathology.2014; 46(6): 509. CrossRef
- Peripheral Primitive Neuroectodermal Tumor with Osseous Component of the Small Bowel Mesentery: A Case Study
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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
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Korean J Pathol. 2013;47(1):77-81. Published online February 25, 2013
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DOI: https://doi.org/10.4132/KoreanJPathol.2013.47.1.77
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10,096
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Abstract
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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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- Primary Ewing’s sarcoma of the intestine: case report and literature review
Baofa Luo, Wei Gao, Ting Li, Xinran Yu, Fei Guo Frontiers in Oncology.2024;[Epub] CrossRef - Primary Ewing’s sarcoma in a small intestine – a case report and review of the literature
Andrej Kolosov, Audrius Dulskas, Kastytis Pauza, Veslava Selichova, Dmitrij Seinin, Eugenijus Stratilatovas BMC Surgery.2020;[Epub] CrossRef - Case report and literature review of Ewing's sarcoma in the gastrointestinal tract
Christopher Bong, Iain Thomson, Guy Lampe 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
LIBO PENG, LIMIN YANG, NAN WU, BO WU Experimental and Therapeutic Medicine.2015; 9(4): 1299. CrossRef - Une curieuse tumeur digestive à cellules rondes
Alia Zehani, Ines Chelly, Beya Chelly, Jean-Michel Coindre, Slim Haouet, Nidhameddine Kchir Annales de Pathologie.2014; 34(2): 104. CrossRef
- Extranodal Follicular Dendritic Cell Sarcoma with Rapid Growth in Parapharynx: A Case Report
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Jung-Soo Pyo, Guhyun Kang, Sung-Im Do, Seoung Wan Chae, Kyungeun Kim, Sang Hyuk Lee, Yoon-La Choi, Joon Hyuk Choi, Jin Hee Sohn, Dong-Hoon Kim
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Korean J Pathol. 2012;46(3):306-310. Published online June 22, 2012
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DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.3.306
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7,285
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Follicular dendritic cell sarcoma (FDCS) is a rare malignancy arising from the antigen-presenting cells in the lymph node and extranodal tissue. We describe a 31-year-old male patient who presented with a swelling of the left parapharynx. The radiologic findings showed a 4.7×4.5×1.9 cm-sized, ill-defined mass in the left parapharyngeal space. A fine-needle aspiration cytology was performed and it showed scattered, irregular, cohesive clusters of tumor cells with a spindle-to-ovoid shape with irregular contours in a background of lymphocytes. Based on these findings, a diagnosis of spindle cell neoplasm was made. The surgically resected tumor was composed of elongated, ovoid or polygonal cells showing positive immunohistochemistry for CD21, CD23, and CD35. Postoperatively, the residual tumor was observed to undergo a rapidly growth. There is an overlap in the cytologic and histologic findings between FDCS of the parapharynx and other tumors. Pathologists should therefore be aware of its characteristics not only to provide an accurate diagnosis but also to recommend the appropriate clinical management.
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Citations
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- Extranodal Follicular Dendritic Cell Sarcoma of the Head and Neck Region: A Clinicopathological Study of 7 Cases
Nasir Ud Din, Zubair Ahmad, Shabina Rahim, Karen Fritchie, Muhammad Usman Tariq, Arsalan Ahmed International Journal of Surgical Pathology.2023; 31(6): 1067. CrossRef - Cytomorphology of follicular dendritic cell sarcoma: a report of 7 cases with an emphasis on the diagnostic challenges
Cody Weimholt, Jalal B. Jalaly, Cedric Bailey Journal of the American Society of Cytopathology.2023; 12(3): 229. CrossRef - Follicular dendritic cells
Seham A. Abd El‐Aleem, Entesar Ali Saber, Neven M. Aziz, Hani El‐Sherif, Asmaa M. Abdelraof, Laiche Djouhri Journal of Cellular Physiology.2022; 237(4): 2019. CrossRef - Clinicopathological characteristics of extranodal follicular dendritic cell sarcoma: A report of two cases
Xing Zhao, Dayong Sun, Gang Zhang Oncology Letters.2021;[Epub] CrossRef - Cytological diagnosis of follicular dendritic cell sarcoma: A case report and review of literature
A. Dutta, P. Arun, P. Roy, I. Arun Cytopathology.2018; 29(5): 461. CrossRef - Follicular dendritic cells and related sarcoma
Fabio Facchetti, Luisa Lorenzi Seminars in Diagnostic Pathology.2016; 33(5): 262. CrossRef - Extranodal follicular dendritic cell sarcoma: A clinicopathological report of four cases and a literature review
RUI-FEN WANG, WEI HAN, LEI QI, LI-HUI SHAN, ZHENG-CAI WANG, LI-FENG WANG Oncology Letters.2015; 9(1): 391. CrossRef - Follicular Dendritic Cell Sarcoma of Parapharyngeal Space: A Case Report and Review of the Literature
Turki Al-Hussain, Muhammad Saleem, Suresh Babu Velagapudi, Mohammad Anas Dababo Head and Neck Pathology.2015; 9(1): 135. CrossRef - Clinical and pathological features of head and neck follicular dendritic cell sarcoma
Ji Li, Min-Li Zhou, Shui-Hong Zhou Hematology.2015; 20(10): 571. CrossRef
- Diagnostic Value of MDM2 and DDIT3 Fluorescence In Situ Hybridization in Liposarcoma Classification: A Single-Institution Experience
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Junhun Cho, Seung Eun Lee, Yoon-La Choi
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Korean J Pathol. 2012;46(2):115-122. Published online April 25, 2012
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DOI: https://doi.org/10.4132/KoreanJPathol.2012.46.2.115
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8,848
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- Background
The amplification of murine double minutes (MDM2) is the primary feature of well-differentiated liposarcomas (WDLPS) and dedifferentiated liposarcomas (DDLPS), while DDIT3 rearrangement is the main one of myxoid liposarcomas (MLPS). Our aim was to evaluate the added value of MDM2 amplification and DDIT3 rearrangement in making a diagnosis and classifying lipogenic tumors. MethodsEighty-two cases of liposarcoma and 60 lipomas diagnosed between 1995 and 2010 were analysed for MDM2 amplification and DDIT3 rearrangement using a fluorescence in situ hybridization (FISH). The subtypes of liposarcoma were reclassified according to the molecular results, whose results were reviewed with an analysis of the relevant histologic and immunohistochemical findings. ResultsOne case of lipoma (1.67%) was reclassified as a WDLPS. Of the liposarcomas, 13.4% (16/82) were reclassified after the molecular testing. Five cases of MLPS were reclassified as four cases of DDLPS and one case of myxoid lipoma. Two cases of WDLPS were reclassified as one case of spindle cell lipoma and another case of myxofibrosarcoma. Four cases of DDLPS were reclassified as two cases of leiomyosarcoma, one case of angiomyolipoma and another case of fibroinflammatory lesion. Of the six cases of pleomorphic liposarcoma, five were reclassified as DDLPS. ConclusionsIn our series, a critical revision of diagnosis was found at a rate of 3.5% (5/142) after a review of the lipomatous lesions. The uses of molecular testing by MDM2 and DDIT3 FISH were valuable to make an accurate subtyping of liposarcomas as well as to differentiate WDLPS from benign lipomatous tumor.
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Naoki Kojima, Takashi Kubo, Taisuke Mori, Kaishi Satomi, Yuko Matsushita, Shintaro Iwata, Yasushi Yatabe, Koichi Ichimura, Akira Kawai, Hitoshi Ichikawa, Akihiko Yoshida Virchows Archiv.2024; 484(1): 71. CrossRef - FISH Diagnostic Assessment of MDM2 Amplification in Liposarcoma: Potential Pitfalls and Troubleshooting Recommendations
Alessandro Gambella, Luca Bertero, Milena Rondón-Lagos, Ludovica Verdun Di Cantogno, Nelson Rangel, Chiara Pitino, Alessia Andrea Ricci, Luca Mangherini, Isabella Castellano, Paola Cassoni International Journal of Molecular Sciences.2023; 24(2): 1342. CrossRef - Expression of CTAG1B clone EPR13780 versus DDIT3 gene rearrangement distinguishes myxoid liposarcoma from its mimics with detection of novel DDIT3 gene copy number variations
Marwa M. Abdelaziz, Hanan Y. Tayel, Amany Abdel-Bary, Omnia M. Badawy Journal of Histotechnology.2022; 45(2): 56. CrossRef - Musculoskeletal Tumors
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Elizabeth G. Demicco Seminars in Diagnostic Pathology.2019; 36(2): 85. CrossRef - Application of MDM2 Fluorescence In Situ Hybridization and Immunohistochemistry in Distinguishing Dedifferentiated Liposarcoma From Other High-grade Sarcomas
Min Jeong Song, Kyung-Ja Cho, Jong-Seok Lee, Joon Seon Song Applied Immunohistochemistry & Molecular Morphology.2017; 25(10): 712. CrossRef - FluorescenceIn SituHybridization forMDM2Amplification as a Routine Ancillary Diagnostic Tool for Suspected Well-Differentiated and Dedifferentiated Liposarcomas: Experience at a Tertiary Center
Khin Thway, Jayson Wang, John Swansbury, Toon Min, Cyril Fisher Sarcoma.2015; 2015: 1. CrossRef
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