Journal of Pathology and Translational Medicine

Original Articles

Establishing molecular pathology curriculum for pathology trainees and continued medical education: a collaborative work from the Molecular Pathology Study Group of the Korean Society of Pathologists: Jiwon Koh, Ha Young Park, Jeong Mo Bae, Jun Kang, Uiju Cho, Seung Eun Lee, Haeyoun Kang, Min Eui Hong, Jae Kyung Won, Youn-La Choi, Wan-Seop Kim, Ahwon Lee; J Pathol Transl Med. 2023;57(5):265-272. Published online September 15, 2023; DOI: https://doi.org/10.4132/jptm.2023.08.26

1,525 View
174 Download

Abstract PDF: Background
The importance of molecular pathology tests has increased during the last decade, and there is a great need for efficient training of molecular pathology for pathology trainees and as continued medical education.
Methods
The Molecular Pathology Study Group of the Korean Society of Pathologists appointed a task force composed of experienced molecular pathologists to develop a refined educational curriculum of molecular pathology. A 3-day online educational session was held based on the newly established structure of learning objectives; the audience were asked to score their understanding of 22 selected learning objectives before and after the session to assess the effect of structured education.
Results
The structured objectives and goals of molecular pathology was established and posted as a web-based interface which can serve as a knowledge bank of molecular pathology. A total of 201 pathologists participated in the educational session. For all 22 learning objectives, the scores of self-reported understanding increased after educational session by 9.9 points on average (range, 6.6 to 17.0). The most effectively improved items were objectives from next-generation sequencing (NGS) section: ‘NGS library preparation and quality control’ (score increased from 51.8 to 68.8), ‘NGS interpretation of variants and reference database’ (score increased from 54.1 to 68.0), and ‘whole genome, whole exome, and targeted gene sequencing’ (score increased from 58.2 to 71.2). Qualitative responses regarding the adequacy of refined educational curriculum were collected, where favorable comments dominated.
Conclusions
Approach toward the education of molecular pathology was refined, which would greatly benefit the future trainees.

Single-center study on clinicopathological and typical molecular pathologic features of metastatic brain tumor: Su Hwa Kim, Young Suk Lee, Sung Hak Lee, Yeoun Eun Sung, Ahwon Lee, Jun Kang, Jae-Sung Park, Sin Soo Jeun, Youn Soo Lee; J Pathol Transl Med. 2023;57(4):217-231. Published online July 11, 2023; DOI: https://doi.org/10.4132/jptm.2023.06.10

1,163 View
113 Download

Abstract PDF: Background
The metastatic brain tumor is the most common brain tumor. The aim of this study was to demonstrate the clinicopathological and molecular pathologic features of brain metastases (BM).
Methods
A total of 269 patients were diagnosed with BM through surgical resection at Seoul St. Mary’s Hospital from January 2010 to March 2020. We reviewed the clinicopathological features and molecular status of primary and metastatic brain tissues using immunohistochemistry and molecular pathology results.
Results
Among 269 patients, 139 males and 130 females were included. The median age of primary tumor was 58 years (range, 13 to 87 years) and 86 patients (32.0%) had BM at initial presentation. Median BM free interval was 28.0 months (range, 1 to 286 months). The most frequent primary site was lung 46.5% (125/269), and followed by breast 15.6% (42/269), colorectum 10.0% (27/269). Epidermal growth factor receptor (EGFR) mutation was found in 50.8% (32/63) and 58.0% (40/69) of lung primary and BM, respectively. In both breast primary and breast cancer with BM, luminal B was the most frequent subtype at 37.9% (11/29) and 42.9% (18/42), respectively, followed by human epidermal growth factor receptor 2 with 31.0% (9/29) and 33.3% (14/42). Triple-negative was 20.7% (6/29) and 16.7% (7/42), and luminal A was 10.3% (3/29) and 7.1% (3/42) of breast primary and BM, respectively. In colorectal primary and colorectal cancer with BM, KRAS mutation was found in 76.9% (10/13) and 66.7% (2/3), respectively.
Conclusions
We report the clinicopathological and molecular pathologic features of BM that can provide useful information for understanding the pathogenesis of metastasis and for clinical trials based on the tumor’s molecular pathology.

Reviews

A standardized pathology report for gastric cancer: 2nd edition: Young Soo Park, Myeong-Cherl Kook, Baek-hui Kim, Hye Seung Lee, Dong-Wook Kang, Mi-Jin Gu, Ok Ran Shin, Younghee Choi, Wonae Lee, Hyunki Kim, In Hye Song, Kyoung-Mee Kim, Hee Sung Kim, Guhyun Kang, Do Youn Park, So-Young Jin, Joon Mee Kim, Yoon Jung Choi, Hee Kyung Chang, Soomin Ahn, Mee Soo Chang, Song-Hee Han, Yoonjin Kwak, An Na Seo, Sung Hak Lee, Mee-Yon Cho; J Pathol Transl Med. 2023;57(1):1-27. Published online January 15, 2023; DOI: https://doi.org/10.4132/jptm.2022.12.23

6,565 View
799 Download
4 Web of Science
6 Crossref

Abstract PDF Supplementary Material

The first edition of ‘A Standardized Pathology Report for Gastric Cancer’ was initiated by the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists and published 17 years ago. Since then, significant advances have been made in the pathologic diagnosis, molecular genetics, and management of gastric cancer (GC). To reflect those changes, a committee for publishing a second edition of the report was formed within the Gastrointestinal Pathology Study Group of the Korean Society of Pathologists. This second edition consists of two parts: standard data elements and conditional data elements. The standard data elements contain the basic pathologic findings and items necessary to predict the prognosis of GC patients, and they are adequate for routine surgical pathology service. Other diagnostic and prognostic factors relevant to adjuvant therapy, including molecular biomarkers, are classified as conditional data elements to allow each pathologist to selectively choose items appropriate to the environment in their institution. We trust that the standardized pathology report will be helpful for GC diagnosis and facilitate large-scale multidisciplinary collaborative studies.

Citations

Citations to this article as recorded by

Genomic and Transcriptomic Characterization of Gastric Cancer with Bone Metastasis
Sujin Oh, Soo Kyung Nam, Keun-Wook Lee, Hye Seung Lee, Yujun Park, Yoonjin Kwak, Kyu Sang Lee, Ji-Won Kim, Jin Won Kim, Minsu Kang, Young Suk Park, Sang-Hoon Ahn, Yun-Suhk Suh, Do Joong Park, Hyung Ho Kim
Cancer Research and Treatment.2024; 56(1): 219. CrossRef
Microscopic tumor mapping of post-neoadjuvant therapy pancreatic cancer specimens to predict post-surgical recurrence: A prospective cohort study
Yeshong Park, Yeon Bi Han, Jinju Kim, MeeYoung Kang, Boram Lee, Eun Sung Ahn, Saemi Han, Haeryoung Kim, Hee-Young Na, Ho-Seong Han, Yoo-Seok Yoon
Pancreatology.2024;[Epub] CrossRef
Effect of Neoadjuvant Chemotherapy on Tumor-Infiltrating Lymphocytes in Resectable Gastric Cancer: Analysis from a Western Academic Center
Elliott J. Yee, Danielle Gilbert, Jeffrey Kaplan, Sachin Wani, Sunnie S. Kim, Martin D. McCarter, Camille L. Stewart
Cancers.2024; 16(7): 1428. CrossRef
Pathological Interpretation of Gastric Tumors in Endoscopic Submucosal Dissection
Jung Yeon Kim
Journal of Digestive Cancer Research.2023; 11(1): 15. CrossRef
Histopathology of Gastric Cancer
Baek-hui Kim, Sung Hak Lee
The Korean Journal of Helicobacter and Upper Gastrointestinal Research.2023; 23(2): 143. CrossRef
Endoscopic submucosal dissection hands-on training with artificial mucosal layer EndoGEL
Tae-Se Kim, Jun Haeng Lee
Journal of Innovative Medical Technology.2023; 1(1): 5. CrossRef

Biomarker testing of cytology specimens in personalized medicine for lung cancer patients: Hyojin Kim, Jin-Haeng Chung; J Pathol Transl Med. 2022;56(6):326-333. Published online November 9, 2022; DOI: https://doi.org/10.4132/jptm.2022.10.17

1,673 View
117 Download
2 Web of Science
2 Crossref

Abstract PDF

Every patient with advanced non–small cell lung cancer (NSCLC) should be tested for targetable driver mutations and gene arrangements that may open avenues for targeted therapy. As most patients with NSCLC in the advanced stage of the disease are not candidates for surgery, these tests have to be performed on small biopsies or cytology samples. A growing number of other genetic changes with targetable mutations may be treatable in the near future. To identify patients who might benefit from novel targeted therapy, relevant markers should be tested in an appropriate context. In addition, immunotherapy of lung cancer is guided by the status of programmed death-ligand 1 expression in tumor cells. The variety and versatility of cytological specimen preparations offer significant advantages for molecular testing; however, they frequently remain underused. Therefore, evaluating the utility and adequacy of cytologic specimens is important, not only from a lung cancer diagnosis, but also for the large number of ancillary studies that are necessary to provide appropriate clinical management. A large proportion of lung cancers is diagnosed by aspiration or exfoliative cytology specimens; thus, optimizing strategies to triage and best use the tissue for diagnosis and biomarker studies forms a critical component of lung cancer management. In this review, we discuss the opportunities and challenges of using cytologic specimens for biomarker testing of lung cancer and the role of cytopathology in the molecular era.

Citations

Citations to this article as recorded by

Molecular testing of cytology specimens: Issues in specimen adequacy and clinical utility
Ghulam Ghous, Komal Ijaz, Magda Esebua, Lester J. Layfield
Diagnostic Cytopathology.2024; 52(2): 123. CrossRef
The updated College of American Pathologists principles of analytic validation of immunohistochemical assays: A step forward for cytopathology
Sinchita Roy‐Chowdhuri
Cancer Cytopathology.2024;[Epub] CrossRef

Follicular lymphoma: updates for pathologists: Mahsa Khanlari, Jennifer R. Chapman; J Pathol Transl Med. 2022;56(1):1-15. Published online December 27, 2021; DOI: https://doi.org/10.4132/jptm.2021.09.29

7,384 View
591 Download
7 Web of Science
6 Crossref

Abstract PDF

Follicular lymphoma (FL) is the most common indolent B-cell lymphoma and originates from germinal center B-cells (centrocytes and centroblasts) of the lymphoid follicle. Tumorigenesis is believed to initiate early in precursor B-cells in the bone marrow (BM) that acquire the t(14;18)(q32;q21). These cells later migrate to lymph nodes to continue their maturation through the germinal center reaction, at which time they acquire additional genetic and epigeneticabnormalities that promote lymphomagenesis. FLs are heterogeneous in terms of their clinicopathologic features. Most FLs are indolent and clinically characterized by peripheral lymphadenopathy with involvement of the spleen, BM, and peripheral blood in a substantial subset of patients, sometimes accompanied by constitutional symptoms and laboratory abnormalities. Diagnosis is established by the histopathologic identification of a B-cell proliferation usually distributed in an at least partially follicular pattern, typically, but not always, in a lymph node biopsy. The B-cell proliferation is biologically of germinal center cell origin, thus shows an expression of germinal center-associated antigens as detected by immunophenotyping. Although many cases of FLs are typical and histopathologic features are straightforward, the biologic and histopathologic variability of FL is wide, and an accurate diagnosis of FL over this disease spectrum requires knowledge of morphologic variants that can mimic other lymphomas, and rarely non-hematologic malignancies, clinically unique variants, and pitfalls in the interpretation of ancillary studies. The overall survival for most patients is prolonged, but relapses are frequent. The treatment landscape in FL now includes the application of immunotherapy and targeted therapy in addition to chemotherapy.

Citations

Citations to this article as recorded by

The follicular lymphoma tumor microenvironment at single-cell and spatial resolution
Andrea J. Radtke, Mark Roschewski
Blood.2024; 143(12): 1069. CrossRef
Transformation of low-grade follicular lymphoma to a high-grade follicular lymphoma with the histopathological diagnosis from oral biopsy: a case report
Gabriela Silveira de Araujo, Leandro Dorigan de Macedo, Alfredo Ribeiro-Silva, Hilton Marcos Alves Ricz, Lara Maria Alencar Ramos Innocentini
Hematology, Transfusion and Cell Therapy.2023;[Epub] CrossRef
Clinical features and prognostic factors in 49 patients with follicular lymphoma at a single center: A retrospective analysis
Hao Wu, Hui-Cong Sun, Gui-Fang Ouyang
World Journal of Clinical Cases.2023; 11(14): 3176. CrossRef
A rare case of follicular lymphoma of the bladder
Matthew DeSanto, Robert Strait, Jared Zopp, Kevin Brown, Samuel Deem
Urology Case Reports.2023; 51: 102542. CrossRef
Analysis of immunophenotypic features in hyaline vascular type Castleman disease
Yu Chang, Yu Ma, Chen Chang, Wensheng Li
Diagnostic Pathology.2023;[Epub] CrossRef
A review of the totality of evidence in the development of ABP 798, a rituximab biosimilar
Patrick Cobb, Dietger Niederwieser, Stanley Cohen, Caroline Hamm, Gerd Burmester, Neungseon Seo, Sonya G Lehto, Vladimir Hanes
Immunotherapy.2022; 14(9): 727. CrossRef

Distinctive morphological and molecular features of urothelial carcinoma with an inverted growth pattern: Francesca Sanguedolce, Beppe Calò, Marco Chirico, Ugo Falagario, Gian Maria Busetto, Magda Zanelli, Alessandra Bisagni, Maurizio Zizzo, Stefano Ascani, Giuseppe Carrieri, Luigi Cormio; J Pathol Transl Med. 2021;55(4):239-246. Published online June 14, 2021; DOI: https://doi.org/10.4132/jptm.2021.04.20

3,013 View
161 Download
2 Web of Science
2 Crossref

Abstract PDF

Urothelial carcinoma with an inverted growth pattern (UC-IGP) is a peculiar entity within the spectrum of urothelial lesions. While efforts have been made over the last few decades to unravel its carcinogenesis and relationship with conventional urothelial carcinoma, the exact classification of inverted urothelial lesions is a matter of debate. The morphological features of UC-IGP pose several issues in differential diagnosis with other mostly benign lesions. Various techniques, including immunohistochemistry, UroVysion, and many molecular methods, have been employed to study the exact nature of this lesion. The aim of this review is to provide a comprehensive overview of the morphological and immunophenotypical aspects of UC-IGP. Moreover, we present and discuss the immunohistochemical and molecular markers involved in diagnosis and prognosis of UC-IGP lesions.

Citations

Citations to this article as recorded by

HER2 Expression in Bladder Cancer: A Focused View on Its Diagnostic, Prognostic, and Predictive Role
Francesca Sanguedolce, Magda Zanelli, Andrea Palicelli, Alessandra Bisagni, Maurizio Zizzo, Stefano Ascani, Maria Carmela Pedicillo, Angelo Cormio, Ugo Giovanni Falagario, Giuseppe Carrieri, Luigi Cormio
International Journal of Molecular Sciences.2023; 24(4): 3720. CrossRef
Proteomic-Based Machine Learning Analysis Reveals PYGB as a Novel Immunohistochemical Biomarker to Distinguish Inverted Urothelial Papilloma From Low-Grade Papillary Urothelial Carcinoma With Inverted Growth
Minsun Jung, Cheol Lee, Dohyun Han, Kwangsoo Kim, Sunah Yang, Ilias P. Nikas, Kyung Chul Moon, Hyeyoon Kim, Min Ji Song, Bohyun Kim, Hyebin Lee, Han Suk Ryu
Frontiers in Oncology.2022;[Epub] CrossRef

Original Articles

Highly prevalent BRAF V600E and low-frequency TERT promoter mutations underlie papillary thyroid carcinoma in Koreans: Sue Youn Kim, Taeeun Kim, Kwangsoon Kim, Ja Seong Bae, Jeong Soo Kim, Chan Kwon Jung; J Pathol Transl Med. 2020;54(4):310-317. Published online June 15, 2020; DOI: https://doi.org/10.4132/jptm.2020.05.12

6,556 View
171 Download
22 Web of Science
22 Crossref

Abstract PDF

Background
The presence of telomerase reverse transcriptase (TERT) promoter mutations have been associated with a poor prognosis in patients with papillary thyroid carcinomas (PTC). The frequency of TERT promoter mutations varies widely depending on the population and the nature of the study.
Methods
Data were prospectively collected in 724 consecutive patients who underwent thyroidectomy for PTC from 2018 to 2019. Molecular testing for BRAF V600E and TERT promoter mutations was performed in all cases.
Results
TERT promoter alterations in two hotspots (C228T and C250T) and C216T were found in 16 (2.2%) and 4 (0.6%) of all PTCs, respectively. The hotspot mutations were significantly associated with older age at diagnosis, larger tumor size, extrathyroidal extension, higher pathologic T category, lateral lymph node metastasis, and higher American Thyroid Association recurrence risk. The patients with C216T variant were younger and had a lower American Thyroid Association recurrence risk than those with hotspot mutations. Concurrent BRAF V600E was found in 19 of 20 cases with TERT promoter mutations. Of 518 microcarcinomas measuring ≤1.0 cm in size, hotspot mutations and C216T variants were detected in five (1.0%) and three (0.6%) cases, respectively.
Conclusions
Our study indicates a low frequency of TERT promoter mutations in Korean patients with PTC and supports previous findings that TERT promoter mutations are more common in older patients with unfavorable clinicopathologic features and BRAF V600E. TERT promoter mutations in patients with microcarcinoma are uncommon and may have a limited role in risk stratification. The C216T variant seems to have no clinicopathologic effect on PTC.

Citations

Citations to this article as recorded by

Active surveillance for adult low-risk papillary thyroid microcarcinoma—a review focused on the 30-year experience of Kuma Hospital—
Yasuhiro Ito, Akira Miyauchi, Makoto Fujishima, Masashi Yamamoto, Takahiro Sasaki
Endocrine Journal.2024; 71(1): 7. CrossRef
Diagnostic utilities of washout CYFRA 21-1 combined with washout thyroglobulin for metastatic lymph nodes in thyroid cancer: a prospective study
Joonseon Park, Solji An, Kwangsoon Kim, Jeong Soo Kim, Chan Kwon Jung, Ja Seong Bae
Scientific Reports.2024;[Epub] CrossRef
2023 Korean Thyroid Association Management Guidelines for Patients with Thyroid Nodules
Young Joo Park, Eun Kyung Lee, Young Shin Song, Soo Hwan Kang, Bon Seok Koo, Sun Wook Kim, Dong Gyu Na, Seung-Kuk Baek, So Won Oh, Min Kyoung Lee, Sang-Woo Lee, Young Ah Lee, Yong Sang Lee, Ji Ye Lee, Dong-Jun Lim, Leehi Joo, Yuh-Seog Jung, Chan Kwon Jung
International Journal of Thyroidology.2023; 16(1): 1. CrossRef
Incidence and risk factors for occult lesions in low-risk papillary thyroid microcarcinoma patients with tumor characteristics appropriate for thermal ablation: A retrospective study
Langping Jin, Kaijun Zhu, Changliang Xu, Jiaying Lu, Liming Huang
Medicine.2023; 102(38): e34938. CrossRef
Identification of NIFTP-Specific mRNA Markers for Reliable Molecular Diagnosis of Thyroid Tumors
So-Yeon Lee, Jong-Lyul Park, Kwangsoon Kim, Ja Seong Bae, Jae-Yoon Kim, Seon-Young Kim, Chan Kwon Jung
Endocrine Pathology.2023; 34(3): 311. CrossRef
Risk factors and predictive model for recurrence in papillary thyroid carcinoma: a single-center retrospective cohort study based on 955 cases
Yin Li, Jiahe Tian, Ke Jiang, Zhongyu Wang, Songbo Gao, Keyang Wei, Ankui Yang, Qiuli Li
Frontiers in Endocrinology.2023;[Epub] CrossRef
BRAFV600E Positivity-Dependent Effect of Age on Papillary Thyroid Cancer Recurrence Risk
Joonseon Park, Solji An, Kwangsoon Kim, Ja Seong Bae, Jeong Soo Kim
Cancers.2023; 15(22): 5395. CrossRef
BRAFV600E mutation test on fine‐needle aspiration specimens of thyroid nodules: Clinical correlations for 4600 patients
Huang Chen, Aiping Song, Ye Wang, Yifan He, Jie Tong, Jinxi Di, Chun Li, Zhongren Zhou, Xiaopin Cai, Dingrong Zhong, Jiping Da
Cancer Medicine.2022; 11(1): 40. CrossRef
Clinicopathological indicators for TERT promoter mutation in papillary thyroid carcinoma
Hee Young Na, Hyeong Won Yu, Woochul Kim, Jae Hoon Moon, Chang Ho Ahn, Sang Il Choi, Yeo Koon Kim, June Young Choi, So Yeon Park
Clinical Endocrinology.2022; 97(1): 106. CrossRef
A Systematic Review and Meta-analysis on the Occurrence of Biomarker Mutation in Colorectal Cancer among the Asian Population
Hafeez Afolabi, Salzihan Md Salleh, Zaidi Zakaria, Ch’ng Ewe Seng, Siti Norasikin Binti Mohd Nafil, Ahmad Aizat Bin Abdul Aziz, Yusuf Wada, Ahmad Irekeola, Syed Sameer Aga
BioMed Research International.2022; 2022: 1. CrossRef
A Significance of Concomitant BRAFV600E and TERT Mutations in Polish Patients with Papillary Thyroid Microcarcinoma: A Retrospective Cohort Study Based on 430 Cases
Artur Kuchareczko, Janusz Kopczyński, Artur Kowalik, Kinga Hińcza-Nowak, Agnieszka Walczyk, Iwona Pałyga, Tomasz Trybek, Monika Szymonek, Danuta Gąsior-Perczak, Klaudia Gadawska-Juszczyk, Estera Mikina, Izabela Płachta, Agnieszka Suligowska, Agnieszka Płu
Thyroid.2022; 32(11): 1372. CrossRef
Machine learning for identifying benign and malignant of thyroid tumors: A retrospective study of 2,423 patients
Yuan-yuan Guo, Zhi-jie Li, Chao Du, Jun Gong, Pu Liao, Jia-xing Zhang, Cong Shao
Frontiers in Public Health.2022;[Epub] CrossRef
TERT Promoter and BRAF V600E Mutations in Papillary Thyroid Cancer: A Single-Institution Experience in Korea
Min Jhi Kim, Jin Kyong Kim, Gi Jeong Kim, Sang-Wook Kang, Jandee Lee, Jong Ju Jeong, Woong Youn Chung, Daham Kim, Kee-Hyun Nam
Cancers.2022; 14(19): 4928. CrossRef
Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients (Endocrinol Metab 2022;37:652-63, Heera Yang et al.)
Sue Youn Kim, Chan Kwon Jung
Endocrinology and Metabolism.2022; 37(6): 947. CrossRef
Frequency of TERT Promoter Mutations in Real-World Analysis of 2,092 Thyroid Carcinoma Patients (Endocrinol Metab 2022;37:652-63, Heera Yang et al.)
Hyunju Park, Jae Hoon Chung
Endocrinology and Metabolism.2022; 37(6): 949. CrossRef
Molecular Pathology of Non-familial Follicular Epithelial–Derived Thyroid Cancer in Adults: From RAS/BRAF-like Tumor Designations to Molecular Risk Stratification
Paula Soares, Antónia Afonso Póvoa, Miguel Melo, João Vinagre, Valdemar Máximo, Catarina Eloy, José Manuel Cameselle-Teijeiro, Manuel Sobrinho-Simões
Endocrine Pathology.2021; 32(1): 44. CrossRef
Clinicopathological Characteristics and Recurrence-Free Survival of Rare Variants of Papillary Thyroid Carcinomas in Korea: A Retrospective Study
Mijin Kim, Sun Wook Cho, Young Joo Park, Hwa Young Ahn, Hee Sung Kim, Yong Joon Suh, Dughyun Choi, Bu Kyung Kim, Go Eun Yang, Il-Seok Park, Ka Hee Yi, Chan Kwon Jung, Bo Hyun Kim
Endocrinology and Metabolism.2021; 36(3): 619. CrossRef
Clinical Application of TERT Promoter Mutations in Urothelial Carcinoma
Yujiro Hayashi, Kazutoshi Fujita, George J. Netto, Norio Nonomura
Frontiers in Oncology.2021;[Epub] CrossRef
MicroRNA Profile for Diagnostic and Prognostic Biomarkers in Thyroid Cancer
Jong-Lyul Park, Seon-Kyu Kim, Sora Jeon, Chan-Kwon Jung, Yong-Sung Kim
Cancers.2021; 13(4): 632. CrossRef
Prospective Analysis of TERT Promoter Mutations in Papillary Thyroid Carcinoma at a Single Institution
Yun-Suk Choi, Seong-Woon Choi, Jin-Wook Yi
Journal of Clinical Medicine.2021; 10(10): 2179. CrossRef
Significance of telomerase reverse-transcriptase promoter mutations in differentiated thyroid cancer
Hung-Fei Lai, Chi-Yu Kuo, Shih-Ping Cheng
Formosan Journal of Surgery.2021; 54(5): 171. CrossRef
Early Diagnosis of Low-Risk Papillary Thyroid Cancer Results Rather in Overtreatment Than a Better Survival
Jolanta Krajewska, Aleksandra Kukulska, Malgorzata Oczko-Wojciechowska, Agnieszka Kotecka-Blicharz, Katarzyna Drosik-Rutowicz, Malgorzata Haras-Gil, Barbara Jarzab, Daria Handkiewicz-Junak
Frontiers in Endocrinology.2020;[Epub] CrossRef

Adjunctive markers for classification and diagnosis of central nervous system tumors: results of a multi-center neuropathological survey in Korea: Yoon Jin Cha, Se Hoon Kim, Na Rae Kim; J Pathol Transl Med. 2020;54(2):165-170. Published online February 20, 2020; DOI: https://doi.org/10.4132/jptm.2020.02.04

5,754 View
208 Download
1 Web of Science
1 Crossref

Abstract PDF Supplementary Material

Background
The revised 4th 2016 World Health Organization (WHO) classification of tumors of the central nervous system (CNS) classification has adopted integrated diagnosis encompassing the histology and molecular features of CNS tumors. We aimed to investigate the immunohistochemistry, molecular testing, and testing methods for diagnosis of CNS tumors in pathological labs of tertiary centers in Korea, and evaluate the adequacy of tests for proper diagnosis in daily practice.
Methods
A survey, composed of eight questions concerning molecular testing for diagnosis of CNS tumors, was sent to 10 neuropathologists working in tertiary centers in Korea.
Results
For diagnosis of astrocytic and oligodendroglial tumors, all 10 centers performed isocitrate dehydrogenase mutations testing and 1p/19q loss of heterozygosity. For glioneuronal tumors, immunohistochemistry (IHC) assays for synaptophysin (n = 9), CD34 (n = 7), BRAF(VE1) (n = 5) were used. For embryonal tumors, particularly in medulloblastoma, four respondents used IHC panel (growth factor receptor bound protein 2-associated protein 1, filamin A, and yes-associated protein 1) for molecular subclassification. Regarding meningioma, all respondents performed Ki-67 IHC and five performed telomerase reverse transcriptase promoter mutation.
Conclusions
Most tertiary centers made proper diagnosis in line with 2016 WHO classification. As classification of CNS tumors has evolved to be more complex and more ancillary tests are required, these should be performed considering the effect of necessity and justification.

Citations

Citations to this article as recorded by

Exploring the role of epidermal growth factor receptor variant III in meningeal tumors
Rashmi Rana, Vaishnavi Rathi, Kirti Chauhan, Kriti Jain, Satnam Singh Chhabra, Rajesh Acharya, Samir Kumar Kalra, Anshul Gupta, Sunila Jain, Nirmal Kumar Ganguly, Dharmendra Kumar Yadav, Timir Tripathi
PLOS ONE.2021; 16(9): e0255133. CrossRef

Double cocktail immunostains with high molecular weight cytokeratin and GATA-3: useful stain to discriminate in situ involvement of prostatic ducts or acini from stromal invasion by urothelial carcinoma in the prostate: Junghye Lee, Youngeun Yoo, Sanghui Park, Min-Sun Cho, Sun Hee Sung, Jae Y. Ro; J Pathol Transl Med. 2020;54(2):146-153. Published online February 10, 2020; DOI: https://doi.org/10.4132/jptm.2019.11.12

5,235 View
112 Download
2 Web of Science
2 Crossref

Abstract PDF

Background
Distinguishing prostatic stromal invasion (PSI) by urothelial carcinoma (UC) from in situ UC involving prostatic ducts or acini with no stromal invasion (in situ involvement) may be challenging on hematoxylin and eosin stained sections. However, the distinction between them is important because cases with PSI show worse prognosis. This study was performed to assess the utility of double cocktail immunostains with high molecular weight cytokeratin (HMWCK) and GATA-3 to discriminate PSI by UC from in situ UC involvement of prostatic ducts or acini in the prostate.
Methods
Among 117 radical cystoprostatectomy specimens for bladder UCs, 25 cases showed secondary involvement of bladder UC in prostatic ducts/acini only or associated stromal invasion and of these 25 cases, seven cases revealed equivocal PSI. In these seven cases with equivocal PSI, HMWCK, and GATA-3 double immunohistochemical stains were performed to identify whether this cocktail stain is useful to identify the stromal invasion.
Results
In all cases, basal cells of prostate glands showed strong cytoplasmic staining for HMWCK and UC cells showed strong nuclear staining for GATA-3. In cases with stromal invasion of UC, GATA-3-positive tumor cells in the prostatic stroma without surrounding HMWCK-positive basal cells were highlighted and easily recognized. Among seven equivocal cases, two cases showed PSI and five in situ UC in the prostate. In two cases, the original diagnoses were revised.
Conclusions
Our study suggested that HMWCK and GATA-3 double stains could be utilized as an adjunct method in the distinction between PSI by UC from in situ UC involving prostatic ducts or acini.

Citations

Citations to this article as recorded by

Aberrant expression of GATA3 in metastatic adenocarcinoma of the prostate: an important pitfall
João Lobo, Nazario P Tenace, Sofia Cañete‐Portillo, Isa Carneiro, Rui Henrique, Roberta Lucianò, Lara R Harik, Cristina Magi‐Galluzzi
Histopathology.2024; 84(3): 507. CrossRef
Utility of D2-40, Cytokeratin 5/6, and High–Molecular-weight Cytokeratin (Clone 34βE12) in Distinguishing Intraductal Spread of Urothelial Carcinoma From Prostatic Stromal Invasion
Oleksii A. Iakymenko, Laurence M. Briski, Katiana S. Delma, Merce Jorda, Oleksandr N. Kryvenko
American Journal of Surgical Pathology.2022; 46(4): 454. CrossRef

Review

Molecular characteristics of meningiomas: Young Suk Lee, Youn Soo Lee; J Pathol Transl Med. 2020;54(1):45-63. Published online January 15, 2020; DOI: https://doi.org/10.4132/jptm.2019.11.05

13,788 View
557 Download
31 Web of Science
34 Crossref

Abstract PDF

Meningioma is the most common primary intracranial tumor in adults. The grading of meningioma is based on World Health Organization criteria, which rely on histopathological features alone. This grading system is unable to conclusively predict the clinical behavior of these tumors (i.e., recurrence or prognosis in benign or atypical grades). Advances in molecular techniques over the last decade that include genomic and epigenomic data associated with meningiomas have been used to identify genetic biomarkers that can predict tumor behavior. This review summarizes the molecular characteristics of meningioma using genetic and epigenetic biomarkers. Molecular alterations that can predict meningioma behavior may be integrated into the upcoming World Health Organization grading system.

Citations

Citations to this article as recorded by

The Natural History and Treatment of Meningiomas: An Update
Arsene Daniel Nyalundja, Fabrice Mugisha, Claire Karekezi
Seminars in Neurology.2024; 44(01): 001. CrossRef
Epidemiology, Genetics, and DNA Methylation Grouping of Hyperostotic Meningiomas
Gray Umbach, Edwina B. Tran, Charlotte D. Eaton, Abrar Choudhury, Ramin Morshed, Javier E. Villanueva-Meyer, Philip V. Theodosopoulos, Stephen T. Magill, Michael W. McDermott, David R. Raleigh, Ezequiel Goldschmidt
Operative Neurosurgery.2024;[Epub] CrossRef
DNA methylation profiling of meningiomas highlights clinically distinct molecular subgroups
Jyotsna Singh, Ravi Sharma, Nidhi Shukla, Priya Narwal, Amit Katiyar, Swati Mahajan, Saumya Sahu, Ajay Garg, Mehar C. Sharma, Ashish Suri, Chitra sarkar, Vaishali Suri
Journal of Neuro-Oncology.2023; 161(2): 339. CrossRef
Spinal meningiomas, from biology to management - A literature review
Nicolas Serratrice, Imène Lameche, Christian Attieh, Moussa A Chalah, Joe Faddoul, Bilal Tarabay, Rabih Bou-Nassif, Youssef Ali, Joseph G Mattar, François Nataf, Samar S Ayache, Georges N Abi Lahoud
Frontiers in Oncology.2023;[Epub] CrossRef
Somatic mutation landscape in a cohort of meningiomas that have undergone grade progression
Sarah A Cain, Bernard Pope, Stefano Mangiola, Theo Mantamadiotis, Katharine J Drummond
BMC Cancer.2023;[Epub] CrossRef
Actualización sobre el meningioma: correlación clínico-radiológica y radio-patológica
A. Navarro-Ballester, M. Aleixandre-Barrachina, S.F. Marco-Doménech
Radiología.2023; 65(5): 458. CrossRef
SMARCE1-related meningiomas: A clear example of cancer predisposing syndrome
Erika Fiorentini, Laura Giunti, Andrea Di Rita, Simone Peraio, Carla Fonte, Chiara Caporalini, Anna Maria Buccoliero, Maria Luigia Censullo, Giulia Gori, Alice Noris, Rosa Pasquariello, Roberta Battini, Rossana Pavone, Flavio Giordano, Sabrina Giglio, Ber
European Journal of Medical Genetics.2023; 66(7): 104784. CrossRef
Grade scoring system reveals distinct molecular subtypes and identifies KIF20A as a novel biomarker for predicting temozolomide treatment efficiency in gliomas
Liguo Ye, Shi’ao Tong, Yaning Wang, Yu Wang, Wenbin Ma
Journal of Cancer Research and Clinical Oncology.2023; 149(12): 9857. CrossRef
Integrated clinical genomic analysis reveals xenobiotic metabolic genes are downregulated in meningiomas of current smokers
A. Basit Khan, Rajan Patel, Malcolm F. McDonald, Eric Goethe, Collin English, Ron Gadot, Arya Shetty, Shervin Hosseingholi Nouri, Arif O. Harmanci, Akdes S. Harmanci, Tiemo J. Klisch, Akash J. Patel
Journal of Neuro-Oncology.2023; 163(2): 397. CrossRef
DNA methylation meningioma biomarkers: attributes and limitations
Zhaohui Li, Yufei Gao, Jinnan Zhang, Liang Han, Hang Zhao
Frontiers in Molecular Neuroscience.2023;[Epub] CrossRef
Meningioma: A Biography—Tumor Forever Tied to the Origins and “Soul of Neurosurgery”
Nolan J. Brown, Zach Pennington, Cathleen C. Kuo, Julian Gendreau, Sachiv Chakravarti, Rohin Singh, Dontré M. Douse, Jamie J. Van Gompel
World Neurosurgery.2023; 178: 191. CrossRef
Molecular genetic features of meningiomas
E.S. Makashova, N.V. Lasunin, M.V. Galkin, S.V. Zolotova, K.O. Karandasheva, A.V. Golanov
Voprosy neirokhirurgii imeni N.N. Burdenko.2023; 87(4): 101. CrossRef
Novel Advances in Treatment of Meningiomas: Prognostic and Therapeutic Implications
Gerardo Caruso, Rosamaria Ferrarotto, Antonello Curcio, Luisa Metro, Francesco Pasqualetti, Paola Gaviani, Valeria Barresi, Filippo Flavio Angileri, Maria Caffo
Cancers.2023; 15(18): 4521. CrossRef
Update on meningioma: Clinical-radiological and radio-pathological correlation
A. Navarro-Ballester, M. Aleixandre-Barrachina, S.F. Marco-Doménech
Radiología (English Edition).2023; 65(5): 458. CrossRef
Early Preventive Strategies and CNS Meningioma – Is This Feasible? A Comprehensive Review of the Literature
Daniel Sescu, Aminta Chansiriwongs, Katarzyna Julia Minta, Jyothi Vasudevan, Chandrasekaran Kaliaperumal
World Neurosurgery.2023; 180: 123. CrossRef
Domestic Animal Models of Central Nervous System Tumors: Focus on Meningiomas
Michele Tomanelli, Tullio Florio, Gabriela Vargas, Aldo Pagano, Paola Modesto
Life.2023; 13(12): 2284. CrossRef
The integrated multiomic diagnosis of sporadic meningiomas: a review of its clinical implications
Stephanie M. Robert, Shaurey Vetsa, Arushii Nadar, Sagar Vasandani, Mark W. Youngblood, Evan Gorelick, Lan Jin, Neelan Marianayagam, E Zeynep Erson-Omay, Murat Günel, Jennifer Moliterno
Journal of Neuro-Oncology.2022; 156(2): 205. CrossRef
Clinical presentation, diagnostic findings and outcome of dogs undergoing surgical resection for intracranial meningioma: 101 dogs
Alexander K. Forward, Holger Andreas Volk, Giunio Bruto Cherubini, Tom Harcourt-Brown, Ioannis N. Plessas, Laurent Garosi, Steven De Decker
BMC Veterinary Research.2022;[Epub] CrossRef
Sphenoid wing meningiomas: peritumoral brain edema as a prognostic factor in surgical outcome
Abdalrahman Nassar, Volodymyr Smolanka, Andriy Smolanka, Dipak Chaulagain, Oleg Devinyak
Neurosurgical Review.2022; 45(4): 2951. CrossRef
Potential Molecular Mechanisms of Recurrent and Progressive Meningiomas: A Review of the Latest Literature
Wenjie Peng, Pei Wu, Minghao Yuan, Bo Yuan, Lian Zhu, Jiesong Zhou, Qian Li
Frontiers in Oncology.2022;[Epub] CrossRef
Case Report: Upper Thoracic Purely Extradural Spinal Meningioma With Nerve Root Attachment: A Case Report and Literature Review
Zhao-Lin Wang, Jian-Hui Mou, Dong Sun, Peng Liu
Frontiers in Surgery.2022;[Epub] CrossRef
Molecular diagnosis and treatment of meningiomas: an expert consensus (2022)
Jiaojiao Deng, Lingyang Hua, Liuguan Bian, Hong Chen, Ligang Chen, Hongwei Cheng, Changwu Dou, Dangmurenjiapu Geng, Tao Hong, Hongming Ji, Yugang Jiang, Qing Lan, Gang Li, Zhixiong Liu, Songtao Qi, Yan Qu, Songsheng Shi, Xiaochuan Sun, Haijun Wang, Yongpi
Chinese Medical Journal.2022; 135(16): 1894. CrossRef
Оновлена інформація про менінгіоми крила клиноподібної кістки
Abdalrahman Nassar, Volodymyr Smolanka
INTERNATIONAL NEUROLOGICAL JOURNAL.2022; 18(1): 43. CrossRef
The Prognostic Value of Methylation Signatures and NF2 Mutations in Atypical Meningiomas
Rahmina Meta, Henning B. Boldt, Bjarne W. Kristensen, Felix Sahm, Wenche Sjursen, Sverre H. Torp
Cancers.2021; 13(6): 1262. CrossRef
Neurofibromatosis Type 2 (NF2) and the Implications for Vestibular Schwannoma and Meningioma Pathogenesis
Suha Bachir, Sanjit Shah, Scott Shapiro, Abigail Koehler, Abdelkader Mahammedi, Ravi N. Samy, Mario Zuccarello, Elizabeth Schorry, Soma Sengupta
International Journal of Molecular Sciences.2021; 22(2): 690. CrossRef
Meningioma: A Review of Epidemiology, Pathology, Diagnosis, Treatment, and Future Directions
Christian Ogasawara, Brandon D. Philbrick, D. Cory Adamson
Biomedicines.2021; 9(3): 319. CrossRef
The substantial loss of H3K27me3 can stratify risk in grade 2, but not in grade 3 meningioma
Minsun Jung, Seong-Ik Kim, Ka Young Lim, Jeongmo Bae, Chul-Kee Park, Seung Hong Choi, Sung-Hye Park, Jae-Kyung Won
Human Pathology.2021; 115: 96. CrossRef
Papillary Meningioma: Case Presentation with Emphasis on Surgical and Medical Therapy of a Rare Variant of Meningioma
Gerardo Cazzato, Valeria Internò, Antonietta Cimmino, Raffaella Messina, Marco Tucci, Teresa Lettini, Leonardo Resta, Giuseppe Ingravallo
Diseases.2021; 9(3): 63. CrossRef
An Overview of Managements in Meningiomas
Lianhua Zhao, Wei Zhao, Yanwei Hou, Cuixia Wen, Jing Wang, Pei Wu, Zaiyu Guo
Frontiers in Oncology.2020;[Epub] CrossRef
Multi-Omics Analysis in Initiation and Progression of Meningiomas: From Pathogenesis to Diagnosis
Jiachen Liu, Congcong Xia, Gaiqing Wang
Frontiers in Oncology.2020;[Epub] CrossRef
Molecular Mechanism and Approach in Progression of Meningioma
Zhiwei Shao, Lihong Liu, Yanghao Zheng, Sheng Tu, Yuanbo Pan, Sheng Yan, Qichun Wei, Anwen Shao, Jianmin Zhang
Frontiers in Oncology.2020;[Epub] CrossRef
Multiple meningiomas: does quantity matter? a population-based survival analysis with underlined age and sex differences
Andres Ramos-Fresnedo, Ricardo A. Domingo, Tito Vivas-Buitrago, Larry Lundy, Daniel M. Trifiletti, Mark E. Jentoft, Amit B. Desai, Alfredo Quiñones-Hinojosa
Journal of Neuro-Oncology.2020; 149(3): 413. CrossRef
Meningioma: A Review of Clinicopathological and Molecular Aspects
Kristin Huntoon, Angus Martin Shaw Toland, Sonika Dahiya
Frontiers in Oncology.2020;[Epub] CrossRef
Neues zur Einteilung und Therapie von Meningeomen
Corinna Seliger, Wolfgang Wick
Neurologie up2date.2020; 3(04): 343. CrossRef

Original Articles

The Prognostic Impact of Synchronous Ipsilateral Multiple Breast Cancer: Survival Outcomes according to the Eighth American Joint Committee on Cancer Staging and Molecular Subtype: Jinah Chu, Hyunsik Bae, Youjeong Seo, Soo Youn Cho, Seok-Hyung Kim, Eun Yoon Cho; J Pathol Transl Med. 2018;52(6):396-403. Published online October 23, 2018; DOI: https://doi.org/10.4132/jptm.2018.10.03

5,538 View
92 Download
7 Web of Science
6 Crossref

Abstract PDF

Background
In the current American Joint Committee on Cancer staging system of breast cancer, only tumor size determines T-category regardless of whether the tumor is single or multiple. This study evaluated if tumor multiplicity has prognostic value and can be used to subclassify breast cancer.
Methods
We included 5,758 patients with invasive breast cancer who underwent surgery at Samsung Medical Center, Seoul, Korea, from 1995 to 2012.
Results
Patients were divided into two groups according to multiplicity (single, n = 4,744; multiple, n = 1,014). Statistically significant differences in lymph node involvement and lymphatic invasion were found between the two groups (p < .001). Patients with multiple masses tended to have luminal A molecular subtype (p < .001). On Kaplan-Meier survival analysis, patients with multiple masses had significantly poorer disease-free survival (DFS) (p = .016). The prognostic significance of multiplicity was seen in patients with anatomic staging group I and prognostic staging group IA (p = .019 and p = .032, respectively). When targeting patients with T1-2 N0 M0, hormone receptor–positive, and human epidermal growth factor receptor 2 (HER2)–negative cancer, Kaplan-Meier survival analysis also revealed significantly reduced DFS with multiple cancer (p = .031). The multivariate analysis indicated that multiplicity was independently correlated with worse DFS (hazard ratio, 1.23; 95% confidence interval, 1.03 to 1.47; p = .025). The results of this study indicate that tumor multiplicity is frequently found in luminal A subtype, is associated with frequent lymph node metastasis, and is correlated with worse DFS.
Conclusions
Tumor multiplicity has prognostic value and could be used to subclassify invasive breast cancer at early stages. Adjuvant chemotherapy would be necessary for multiple masses of T1–2 N0 M0, hormone-receptor-positive, and HER2-negative cancer.

Citations

Citations to this article as recorded by

Deep learning-based system for automatic prediction of triple-negative breast cancer from ultrasound images
Alexandre Boulenger, Yanwen Luo, Chenhui Zhang, Chenyang Zhao, Yuanjing Gao, Mengsu Xiao, Qingli Zhu, Jie Tang
Medical & Biological Engineering & Computing.2023; 61(2): 567. CrossRef
Multicentre prospective cohort study of unmet supportive care needs among patients with breast cancer throughout their cancer treatment trajectory in Penang: a PenBCNeeds Study protocol
Noorsuzana Mohd Shariff, Nizuwan Azman, Rohayu Hami, Noor Mastura Mohd Mujar, Mohammad Farris Iman Leong Bin Abdullah
BMJ Open.2021; 11(3): e044746. CrossRef
The subgross morphology of breast carcinomas: a single-institution series of 2033 consecutive cases documented in large-format histology slides
Tibor Tot, Maria Gere, Syster Hofmeyer, Annette Bauer, Ulrika Pellas
Virchows Archiv.2020; 476(3): 373. CrossRef
Editorial for “Synchronous Breast Cancer: Phenotypic Similarities on MRI”
Uma Sharma
Journal of Magnetic Resonance Imaging.2020; 52(1): 309. CrossRef
Synchronous Multiple Breast Cancers—Do We Need to Reshape Staging?
Minodora Onisâi, Adrian Dumitru, Iuliana Iordan, Cătălin Aliuș, Oana Teodor, Adrian Alexandru, Daniela Gheorghiță, Iulian Antoniac, Adriana Nica, Alexandra-Ana Mihăilescu, Sebastian Grădinaru
Medicina.2020; 56(5): 230. CrossRef
Molecular mechanism of triple‑negative breast cancer‑associated BRCA1 and the identification of signaling pathways
Feng Qi, Wen‑Xing Qin, Yuan‑Sheng Zang
Oncology Letters.2019;[Epub] CrossRef

Protein Phosphatase Magnesium-Dependent 1δ (PPM1D) Expression as a Prognostic Marker in Adult Supratentorial Diffuse Astrocytic and Oligodendroglial Tumors: Hui Jeong Jeong, Chang Gok Woo, Bora Lee, Shin Kwang Khang, Soo Jeong Nam, Jene Choi; J Pathol Transl Med. 2018;52(2):71-78. Published online October 18, 2017; DOI: https://doi.org/10.4132/jptm.2017.10.21

6,315 View
198 Download
2 Web of Science
2 Crossref

Abstract PDF Supplementary Material

Background
Protein phosphatase magnesium-dependent 1δ (PPM1D) is a p53-induced serine/ threonine phosphatase, which is overexpressed in various human cancers. A recent study reported that a mutation in the PPM1D gene is associated with poor prognosis in brainstem gliomas. In this study, we evaluated the utility of PPM1D as a prognostic biomarker of adult supratentorial diffuse astrocytic and oligodendroglial tumors.
Methods
To investigate PPM1D protein expression, mRNA expression, and copy number changes, immunohistochemistry, RNAscope in situ hybridization, and fluorescence in situ hybridization were performed in 84 adult supratentorial diffuse gliomas. We further analyzed clinical characteristics and overall survival (OS) according to PPM1D protein expression, and examined its correlation with other glioma biomarkers such as isocitrate dehydrogenase (IDH) mutation, and p53 expression.
Results
Forty-six cases (54.8%) were PPM1D-positive. PPM1D expression levels were significantly correlated with PPM1D transcript levels (p= .035), but marginally with PPM1D gene amplification (p=.079). Patients with high-grade gliomas showed a higher frequency of PPM1D expression than those with low-grade gliomas (p <.001). Multivariate analysis demonstrated that PPM1D expression (hazard ratio [HR], 2.58; p=.032), age over 60 years (HR, 2.55; p=.018), and IDH1 mutation (HR, 0.18; p=.002) were significantly independent prognostic factors; p53 expression had no prognostic significance (p=.986). The patients with tumor expressing PPM1D showed a shorter OS (p=.003). Moreover, patients with tumor harboring wild-type IDH1 and PPM1D expression had the worst OS (p<.001).
Conclusions
Our data suggest that a subset of gliomas express PPM1D; PPM1D expression is a significant marker of poor prognosis in adult supratentorial diffuse astrocytic and oligodendroglial tumors.

Citations

Citations to this article as recorded by

Characteristic analysis and identification of novel molecular biomarkers in elderly glioblastoma patients using the 2021 WHO Classification of Central Nervous System Tumors
Yaning Wang, Junlin Li, Yaning Cao, Wenlin Chen, Hao Xing, Xiaopeng Guo, Yixin Shi, Yuekun Wang, Tingyu Liang, Liguo Ye, Delin Liu, Tianrui Yang, Yu Wang, Wenbin Ma
Frontiers in Neuroscience.2023;[Epub] CrossRef
Metal-dependent Ser/Thr protein phosphatase PPM family: Evolution, structures, diseases and inhibitors
Rui Kamada, Fuki Kudoh, Shogo Ito, Itsumi Tani, Jose Isagani B. Janairo, James G. Omichinski, Kazuyasu Sakaguchi
Pharmacology & Therapeutics.2020; 215: 107622. CrossRef

Reviews

Molecular Testing of Brain Tumor: Sung-Hye Park, Jaekyung Won, Seong-Ik Kim, Yujin Lee, Chul-Kee Park, Seung-Ki Kim, Seung-Hong Choi; J Pathol Transl Med. 2017;51(3):205-223. Published online May 12, 2017; DOI: https://doi.org/10.4132/jptm.2017.03.08

28,566 View
1,137 Download
35 Web of Science
40 Crossref

Abstract PDF

The World Health Organization (WHO) classification of central nervous system (CNS) tumors was revised in 2016 with a basis on the integrated diagnosis of molecular genetics. We herein provide the guidelines for using molecular genetic tests in routine pathological practice for an accurate diagnosis and appropriate management. While astrocytomas and IDH-mutant (secondary) glioblastomas are characterized by the mutational status of IDH, TP53, and ATRX, oligodendrogliomas have a 1p/19q codeletion and mutations in IDH, CIC, FUBP1, and the promoter region of telomerase reverse transcriptase (TERTp). IDH-wildtype (primary) glioblastomas typically lack mutations in IDH, but are characterized by copy number variations of EGFR, PTEN, CDKN2A/B, PDGFRA, and NF1 as well as mutations of TERTp. High-grade pediatric gliomas differ from those of adult gliomas, consisting of mutations in H3F3A, ATRX, and DAXX, but not in IDH genes. In contrast, well-circumscribed low-grade neuroepithelial tumors in children, such as pilocytic astrocytoma, pleomorphic xanthoastrocytoma, and ganglioglioma, often have mutations or activating rearrangements in the BRAF, FGFR1, and MYB genes. Other CNS tumors, such as ependymomas, neuronal and glioneuronal tumors, embryonal tumors, meningothelial, and other mesenchymal tumors have important genetic alterations, many of which are diagnostic, prognostic, and predictive markers and therapeutic targets. Therefore, the neuropathological evaluation of brain tumors is increasingly dependent on molecular genetic tests for proper classification, prediction of biological behavior and patient management. Identifying these gene abnormalities requires cost-effective and high-throughput testing, such as next-generation sequencing. Overall, this paper reviews the global guidelines and diagnostic algorithms for molecular genetic testing of brain tumors.

Citations

Citations to this article as recorded by

PTEN regulates expression of its pseudogene in glioblastoma cells in DNA methylation-dependent manner
Tatyana F. Kovalenko, Bhupender Yadav, Ksenia S. Anufrieva, Tatyana D. Larionova, Tatiana E. Aksinina, Yaroslav A. Latyshev, Soniya Bastola, Michail I. Shakhparonov, Amit Kumar Pandey, Marat S. Pavlyukov
Biochimie.2024; 219: 74. CrossRef
CDKN2A/B deletion in IDH-mutant astrocytomas: An evaluation by Fluorescence in-situ hybridization
Manali Ranade, Sridhar Epari, Omshree Shetty, Sandeep Dhanavade, Sheetal Chavan, Ayushi Sahay, Arpita Sahu, Prakash Shetty, Aliasgar Moiyadi, Vikash Singh, Archya Dasgupta, Abhishek Chatterjee, Sadhana Kannan, Tejpal Gupta
Journal of Neuro-Oncology.2024; 167(1): 189. CrossRef
Central neurocytoma exhibits radial glial cell signatures with FGFR3 hypomethylation and overexpression
Yeajina Lee, Tamrin Chowdhury, Sojin Kim, Hyeon Jong Yu, Kyung-Min Kim, Ho Kang, Min-Sung Kim, Jin Wook Kim, Yong-Hwy Kim, So Young Ji, Kihwan Hwang, Jung Ho Han, Jinha Hwang, Seong-Keun Yoo, Kyu Sang Lee, Gheeyoung Choe, Jae-Kyung Won, Sung-Hye Park, Yon
Experimental & Molecular Medicine.2024;[Epub] CrossRef
Drugging Hijacked Kinase Pathways in Pediatric Oncology: Opportunities and Current Scenario
Marina Ferreira Candido, Mariana Medeiros, Luciana Chain Veronez, David Bastos, Karla Laissa Oliveira, Julia Alejandra Pezuk, Elvis Terci Valera, María Sol Brassesco
Pharmaceutics.2023; 15(2): 664. CrossRef
BrainBase: a curated knowledgebase for brain diseases
Lin Liu, Yang Zhang, Guangyi Niu, Qianpeng Li, Zhao Li, Tongtong Zhu, Changrui Feng, Xiaonan Liu, Yuansheng Zhang, Tianyi Xu, Ruru Chen, Xufei Teng, Rongqin Zhang, Dong Zou, Lina Ma, Zhang Zhang
Nucleic Acids Research.2022; 50(D1): D1131. CrossRef
A heat shock protein 90 inhibitor reduces oncoprotein expression and induces cell death in heterogeneous glioblastoma cells with EGFR, PDGFRA, CDK4, and NF1 aberrations
Kuan-Ta Ho, Pei-Fan Chen, Jian-Ying Chuang, Po-Wu Gean, Yuan-Shuo Hsueh
Life Sciences.2022; 288: 120176. CrossRef
Bicentric validation of the navigated transcranial magnetic stimulation motor risk stratification model
Tizian Rosenstock, Levin Häni, Ulrike Grittner, Nicolas Schlinkmann, Meltem Ivren, Heike Schneider, Andreas Raabe, Peter Vajkoczy, Kathleen Seidel, Thomas Picht
Journal of Neurosurgery.2022; 136(4): 1194. CrossRef
Foramen magnum meningioma presented as cervical myelopathy in a pregnant COVID-19 patient: A case report
Olivia Josephine Wijaya, Djohan Ardiansyah
Annals of Medicine and Surgery.2022; 77: 103647. CrossRef
The telomere maintenance mechanism spectrum and its dynamics in gliomas
Sojin Kim, Tamrin Chowdhury, Hyeon Jong Yu, Jee Ye Kahng, Chae Eun Lee, Seung Ah. Choi, Kyung-Min Kim, Ho Kang, Joo Ho Lee, Soon-Tae Lee, Jae-Kyung Won, Kyung Hyun Kim, Min-Sung Kim, Ji Yeoun Lee, Jin Wook Kim, Yong-Hwy Kim, Tae Min Kim, Seung Hong Choi,
Genome Medicine.2022;[Epub] CrossRef
A review of predictive, prognostic and diagnostic biomarkers for brain tumours: towards personalised and targeted cancer therapy
Ernest Osei, Pascale Walters, Olivia Masella, Quinton Tennant, Amber Fishwick, Eugenia Dadzie, Anmol Bhangu, Johnson Darko
Journal of Radiotherapy in Practice.2021; 20(1): 83. CrossRef
Use of a novel navigable tubular retractor system in 1826 minimally invasive parafascicular surgery (MIPS) cases involving deep-seated brain tumors, hemorrhages and malformations
Martina M. Cartwright, Penny Sekerak, Joseph Mark, Julian Bailes
Interdisciplinary Neurosurgery.2021; 23: 100919. CrossRef
Disentangling the therapeutic tactics in GBM: From bench to bedside and beyond
S. Daisy Precilla, Shreyas S. Kuduvalli, Anitha Thirugnanasambandhar Sivasubramanian
Cell Biology International.2021; 45(1): 18. CrossRef
Sequencing of a central nervous system tumor demonstrates cancer transmission in an organ transplant
Marie-Claude Gingras, Aniko Sabo, Maria Cardenas, Abbas Rana, Sadhna Dhingra, Qingchang Meng, Jianhong Hu, Donna M Muzny, Harshavardhan Doddapaneni, Lesette Perez, Viktoriya Korchina, Caitlin Nessner, Xiuping Liu, Hsu Chao, John Goss, Richard A Gibbs
Life Science Alliance.2021; 4(9): e202000941. CrossRef
Radiogenomics of Gliomas
Chaitra Badve, Sangam Kanekar
Radiologic Clinics of North America.2021; 59(3): 441. CrossRef
Chemical analysis of the human brain by imaging mass spectrometry
Akhila Ajith, Yeswanth Sthanikam, Shibdas Banerjee
The Analyst.2021; 146(18): 5451. CrossRef
Correlation between Stage and Histopathological Features and Clinical Outcomes in Patients with Glioma Tumors
Andre Lona, Alfansuri Kadri, Irina Kemala Nasution
Open Access Macedonian Journal of Medical Sciences.2021; 9(T3): 262. CrossRef
Pediatric Glioma: An Update of Diagnosis, Biology, and Treatment
Yusuke Funakoshi, Nobuhiro Hata, Daisuke Kuga, Ryusuke Hatae, Yuhei Sangatsuda, Yutaka Fujioka, Kosuke Takigawa, Masahiro Mizoguchi
Cancers.2021; 13(4): 758. CrossRef
Discovery of clinically relevant fusions in pediatric cancer
Stephanie LaHaye, James R. Fitch, Kyle J. Voytovich, Adam C. Herman, Benjamin J. Kelly, Grant E. Lammi, Jeremy A. Arbesfeld, Saranga Wijeratne, Samuel J. Franklin, Kathleen M. Schieffer, Natalie Bir, Sean D. McGrath, Anthony R. Miller, Amy Wetzel, Katheri
BMC Genomics.2021;[Epub] CrossRef
Clinicopathological correlation of glioma patients with respect to immunohistochemistry markers: A prospective study of 115 patients in a Tertiary Care Hospital in North India
Gitanshu Dahuja, Ashok Gupta, Arpita Jindal, Gaurav Jain, Santosh Sharma, Arvind Kumar
Asian Journal of Neurosurgery.2021; 16(04): 732. CrossRef
Role of Extracellular Vesicles in Glioma Progression: Deciphering Cellular Biological Processes to Clinical Applications
Rashmi Rana, Shikha Joon, Kirti Chauhan, Vaishnavi Rathi, Nirmal Kumar Ganguly, Chandni Kumari, Dharmendra Kumar Yadav
Current Topics in Medicinal Chemistry.2021; 21(8): 696. CrossRef
A comprehensive overview on the molecular biology of human glioma: what the clinician needs to know
P. D. Delgado-López, P. Saiz-López, R. Gargini, E. Sola-Vendrell, S. Tejada
Clinical and Translational Oncology.2020; 22(11): 1909. CrossRef
Use of Fluorescence In Situ Hybridization (FISH) in Diagnosis and Tailored Therapies in Solid Tumors
Natalia Magdalena Chrzanowska, Janusz Kowalewski, Marzena Anna Lewandowska
Molecules.2020; 25(8): 1864. CrossRef
From Banding to BAM Files
Adrian M. Dubuc
Surgical Pathology Clinics.2020; 13(2): 343. CrossRef
Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing
Ejaz Butt, Sabra Alyami, Tahani Nageeti, Muhammad Saeed, Khalid AlQuthami, Abdellatif Bouazzaoui, Mohammad Athar, Zainularifeen Abduljaleel, Faisal Al-Allaf, Mohiuddin Taher
F1000Research.2020; 8: 613. CrossRef
Assessment of the non-linear optical behavior of cells for discrimination between normal and malignant glial cells
Soraya Emamgholizadeh Minaei, Alireza Ghader, Ali Abbasian Ardakani, Samideh Khoei, Mohammad Hosein Majles Ara
Laser Physics.2020; 30(12): 125601. CrossRef
Mutation profiling of anaplastic ependymoma grade III by Ion Proton next generation DNA sequencing
Muhammad Butt, Sabra Alyami, Tahani Nageeti, Muhammad Saeed, Khalid AlQuthami, Abdellatif Bouazzaoui, Mohammad Athar, Zainularifeen Abduljaleel, Faisal Al-Allaf, Mohiuddin Taher
F1000Research.2019; 8: 613. CrossRef
A Multiplex Quantitative Reverse Transcription Polymerase Chain Reaction Assay for the Detection of KIAA1549–BRAF Fusion Transcripts in Formalin-Fixed Paraffin-Embedded Pilocytic Astrocytomas
David Bret, Valentin Chappuis, Delphine Poncet, François Ducray, Karen Silva, Fabrice Mion, Alexandre Vasiljevic, Carole Ferraro-Peyret, Carmine Mottolese, Pierre Leblond, Mathieu Gabut, Didier Frappaz, Nathalie Streichenberger, David Meyronet, Pierre-Pau
Molecular Diagnosis & Therapy.2019; 23(4): 537. CrossRef
A PTPmu Biomarker is Associated with Increased Survival in Gliomas
Mette L. Johansen, Jason Vincent, Haley Gittleman, Sonya E. L. Craig, Marta Couce, Andrew E. Sloan, Jill S. Barnholtz-Sloan, Susann M. Brady-Kalnay
International Journal of Molecular Sciences.2019; 20(10): 2372. CrossRef
ATRX Mutations in Pineal Parenchymal Tumors of Intermediate Differentiation
Haydee Martínez, Michelle Nagurney, Zi-Xuan Wang, Charles G Eberhart, Christopher M Heaphy, Mark T Curtis, Fausto J Rodriguez
Journal of Neuropathology & Experimental Neurology.2019; 78(8): 703. CrossRef
The role of fibroblast growth factors and their receptors in gliomas: the mutations involved
Vasiliki Georgiou, Vasiliki Gkretsi
Reviews in the Neurosciences.2019; 30(5): 543. CrossRef
The Role of Next Generation Sequencing in Diagnosis of Brain Tumors: A Review Study
Sadegh Shirian, Yahya Daneshbod, Saranaz Jangjoo, Amir Ghaemi, Arash Goodarzi, Maryam Ghavideldarestani, Ahmad Emadi, Arman Ai, Akbar Ahmadi, Jafar Ai
Archives of Neuroscience.2019;[Epub] CrossRef
Applied Precision Cancer Medicine in Neuro-Oncology
H. Taghizadeh, L. Müllauer, J. Furtner, J. A. Hainfellner, C. Marosi, M. Preusser, G. W. Prager
Scientific Reports.2019;[Epub] CrossRef
Comparative genomic analysis of driver mutations in matched primary and recurrent meningiomas
Joshua Loewenstern, John Rutland, Corey Gill, Hanane Arib, Margaret Pain, Melissa Umphlett, Yayoi Kinoshita, Russell McBride, Michael Donovan, Robert Sebra, Joshua Bederson, Mary Fowkes, Raj Shrivastava
Oncotarget.2019; 10(37): 3506. CrossRef
Next generation DNA sequencing of atypical choroid plexus papilloma of brain: Identification of novel mutations in a female patient by Ion Proton
Mohiuddin Taher, Amal Hassan, Muhammad Saeed, Raid Jastania, Tahani Nageeti, Hisham Alkhalidi, Ghida Dairi, Zainularifeen Abduljaleel, Mohammad Athar, Abdellatif Bouazzaoui, Wafa El‑Bjeirami, Faisal Al‑Allaf
Oncology Letters.2019;[Epub] CrossRef
Pure mechanistic analysis of additive neuroprotective effects between baicalin and jasminoidin in ischemic stroke mice
Peng-qian Wang, Qiong Liu, Wen-juan Xu, Ya-nan Yu, Ying-ying Zhang, Bing Li, Jun Liu, Zhong Wang
Acta Pharmacologica Sinica.2018; 39(6): 961. CrossRef
The Smad4/PTEN Expression Pattern Predicts Clinical Outcomes in Colorectal Adenocarcinoma
Yumin Chung, Young Chan Wi, Yeseul Kim, Seong Sik Bang, Jung-Ho Yang, Kiseok Jang, Kyueng-Whan Min, Seung Sam Paik
Journal of Pathology and Translational Medicine.2018; 52(1): 37. CrossRef
Primary brain tumours in adults
Sarah Lapointe, Arie Perry, Nicholas A Butowski
The Lancet.2018; 392(10145): 432. CrossRef
Epidemiology and Overview of Gliomas
Mary Elizabeth Davis
Seminars in Oncology Nursing.2018; 34(5): 420. CrossRef
Toward Precision Medicine: Promising Areas of Research in Glioma
Mary Elizabeth Davis, Dana Bossert, Malbora Manne
Seminars in Oncology Nursing.2018; 34(5): 569. CrossRef
Molecular Basis of Pediatric Brain Tumors
Alexia Klonou, Christina Piperi, Antonios N. Gargalionis, Athanasios G. Papavassiliou
NeuroMolecular Medicine.2017; 19(2-3): 256. CrossRef

Molecular Testing of Lymphoproliferative Disorders: Current Status and Perspectives: Yoon Kyung Jeon, Sun Och Yoon, Jin Ho Paik, Young A Kim, Bong Kyung Shin, Hyun-Jung Kim, Hee Jeong Cha, Ji Eun Kim, Jooryung Huh, Young-Hyeh Ko; J Pathol Transl Med. 2017;51(3):224-241. Published online May 10, 2017; DOI: https://doi.org/10.4132/jptm.2017.04.09

15,715 View
652 Download
9 Web of Science
11 Crossref

Abstract PDF

Molecular pathologic testing plays an important role for the diagnosis, prognostication and decision of treatment strategy in lymphoproliferative disease. Here, we briefly review the molecular tests currently used for lymphoproliferative disease and those which will be implicated in clinical practice in the near future. Specifically, this guideline addresses the clonality test for B- and T-cell proliferative lesions, molecular cytogenetic tests for malignant lymphoma, determination of cell-of-origin in diffuse large B-cell lymphoma, and molecular genetic alterations incorporated in the 2016 revision of the World Health Organization classification of lymphoid neoplasms. Finally, a new perspective on the next-generation sequencing for diagnostic, prognostic, and therapeutic purpose in malignant lymphoma will be summarized.

Citations

Citations to this article as recorded by

Assessment of Bone Marrow Involvement in B‐Cell non‐Hodgkin Lymphoma Using Immunoglobulin Gene Rearrangement Analysis with Next‐Generation Sequencing
Min Ji Jeon, Eun Sang Yu, Dae Sik Kim, Chul Won Choi, Ha Nui Kim, Jung Ah Kwon, Soo‐Young Yoon, Jung Yoon
Journal of Clinical Laboratory Analysis.2024;[Epub] CrossRef
Thymus and lung mucosa-associated lymphoid tissue lymphoma with adenocarcinoma of the lung: a case report and literature review
Yu Pang, Daosheng Li, Yiqian Chen, Qinqin Liu, Yuheng Wu, Qingliang Teng, Yuyu Liu
World Journal of Surgical Oncology.2023;[Epub] CrossRef
Development and implementation of an automated and highly accurate reporting process for NGS-based clonality testing
Sean T. Glenn, Phillip M. Galbo, Jesse D. Luce, Kiersten Marie Miles, Prashant K. Singh, Manuel J. Glynias, Carl Morrison
Oncotarget.2023; 14(1): 450. CrossRef
A comparison of capillary electrophoresis and next-generation sequencing in the detection of immunoglobulin heavy chain H and light chain κ gene rearrangements in the diagnosis of classic hodgkin’s lymphoma
Juan-Juan Zhang, Yu-Xin Xie, Li-Lin Luo, Xuan-Tao Yang, Yi-Xing Wang, Yue Cao, Zheng-Bo Long, Wan-Pu Wang
Bioengineered.2022; 13(3): 5868. CrossRef
Lymphoproliferative disorder involving body fluid: diagnostic approaches and roles of ancillary studies
Jiwon Koh, Sun Ah Shin, Ji Ae Lee, Yoon Kyung Jeon
Journal of Pathology and Translational Medicine.2022; 56(4): 173. CrossRef
Diagnostic Workup of Primary Cutaneous B Cell Lymphomas: A Clinician's Approach
Giulia Tadiotto Cicogna, Martina Ferranti, Mauro Alaibac
Frontiers in Oncology.2020;[Epub] CrossRef
Kappa and lambda immunohistochemistry and in situ hybridization in the evaluation of atypical cutaneous lymphoid infiltrates
Alexandra C. Hristov, Nneka I. Comfere, Claudia I. Vidal, Uma Sundram
Journal of Cutaneous Pathology.2020; 47(11): 1103. CrossRef
Primary lung mucosa-associated lymphoid tissue lymphoma accompanied by multiple sclerosis
Ke-Ke Yu, Lei Zhu, Ji-Kai Zhao, Rui-Ying Zhao, Yu-Chen Han
Chinese Medical Journal.2019; 132(13): 1625. CrossRef
Diagnostic accuracy of SOX11 immunohistochemistry in mantle cell lymphoma: A meta-analysis
Woojoo Lee, Eun Shin, Bo-Hyung Kim, Hyunchul Kim, Riccardo Dolcetti
PLOS ONE.2019; 14(11): e0225096. CrossRef
Views of dermatopathologists about clonality assays in the diagnosis of cutaneous T‐cell and B‐cell lymphoproliferative disorders
Nneka Comfere, Uma Sundram, Maria Yadira Hurley, Brian Swick
Journal of Cutaneous Pathology.2018; 45(1): 39. CrossRef
A Next-Generation Sequencing Primer—How Does It Work and What Can It Do?
Yuriy O. Alekseyev, Roghayeh Fazeli, Shi Yang, Raveen Basran, Thomas Maher, Nancy S. Miller, Daniel Remick
Academic Pathology.2018; 5: 2374289518766521. CrossRef

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

22,894 View
1,054 Download
30 Web of Science
31 Crossref

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.

Citations

Citations to this article as recorded by

Validation and Clinical Application of ONCOaccuPanel for Targeted Next-Generation Sequencing of Solid Tumors
Moonsik Kim, Changseon Lee, Juyeon Hong, Juhee Kim, Ji Yun Jeong, Nora Jee-Young Park, Ji-Eun Kim, Ji Young Park
Cancer Research and Treatment.2023; 55(2): 429. CrossRef
Establishing molecular pathology curriculum for pathology trainees and continued medical education: a collaborative work from the Molecular Pathology Study Group of the Korean Society of Pathologists
Jiwon Koh, Ha Young Park, Jeong Mo Bae, Jun Kang, Uiju Cho, Seung Eun Lee, Haeyoun Kang, Min Eui Hong, Jae Kyung Won, Youn-La Choi, Wan-Seop Kim, Ahwon Lee
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
Ka-Hei (Murphy) Sun, Yin-Ting (Heylie) Wong, Ka-Man (Carmen) Cheung, Carmen (Michelle) Yuen, Yun-Tat (Ted) Chan, Wing-Yan (Jennifer) Lai, Chun (David) Chao, Wing-Sum (Katie) Fan, Yuen-Kiu (Karen) Chow, Man-Fai Law, Ho-Chi (Tommy) Tam
Diagnostics.2022; 12(2): 409. CrossRef
Defining Novel DNA Virus-Tumor Associations and Genomic Correlates Using Prospective Clinical Tumor/Normal Matched Sequencing Data
Chad M. Vanderbilt, Anita S. Bowman, Sumit Middha, Kseniya Petrova-Drus, Yi-Wei Tang, Xin Chen, Youxiang Wang, Jason Chang, Natasha Rekhtman, Klaus J. Busam, Sounak Gupta, Meera Hameed, Maria E. Arcila, Marc Ladanyi, Michael F. Berger, Snjezana Dogan, Ahm
The Journal of Molecular Diagnostics.2022; 24(5): 515. CrossRef
Performance Evaluation of Three DNA Sample Tracking Tools in a Whole Exome Sequencing Workflow
Gertjan Wils, Céline Helsmoortel, Pieter-Jan Volders, Inge Vereecke, Mauro Milazzo, Jo Vandesompele, Frauke Coppieters, Kim De Leeneer, Steve Lefever
Molecular Diagnosis & Therapy.2022; 26(4): 411. CrossRef
Clinical Quality Considerations when Using Next-Generation Sequencing (NGS) in Clinical Drug Development
Timothé Ménard, Alaina Barros, Christopher Ganter
Therapeutic Innovation & Regulatory Science.2021; 55(5): 1066. CrossRef
Fast Healthcare Interoperability Resources (FHIR)–Based Quality Information Exchange for Clinical Next-Generation Sequencing Genomic Testing: Implementation Study
Donghyeong Seong, Sungwon Jung, Sungchul Bae, Jongsuk Chung, Dae-Soon Son, Byoung-Kee Yi
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)
JinJu Kim, Ja Young Lee, Jungwon Huh, Myung-Hyun Nam, Myungshin Kim, Young-Uk Cho, Sun-Young Kong, Seung-Tae Lee, In-Suk Kim
Laboratory Medicine Online.2021; 11(1): 25. CrossRef
MSI-Testung
Josef Rüschoff, Gustavo Baretton, Hendrik Bläker, Wolfgang Dietmaier, Manfred Dietel, Arndt Hartmann, Lars-Christian Horn, Korinna Jöhrens, Thomas Kirchner, Ruth Knüchel, Doris Mayr, Sabine Merkelbach-Bruse, Hans-Ulrich Schildhaus, Peter Schirmacher, Mark
Der Pathologe.2021; 42(4): 414. CrossRef
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
MSI testing
Josef Rüschoff, Gustavo Baretton, Hendrik Bläker, Wolfgang Dietmaier, Manfred Dietel, Arndt Hartmann, Lars-Christian Horn, Korinna Jöhrens, Thomas Kirchner, Ruth Knüchel, Doris Mayr, Sabine Merkelbach-Bruse, Hans-Ulrich Schildhaus, Peter Schirmacher, Mark
Der Pathologe.2021; 42(S1): 110. CrossRef
16S rDNA microbiome composition pattern analysis as a diagnostic biomarker for biliary tract cancer
Huisong Lee, Hyeon Kook Lee, Seog Ki Min, Won Hee Lee
World Journal of Surgical Oncology.2020;[Epub] CrossRef
Risk Stratification Using a Novel Genetic Classifier IncludingPLEKHS1Promoter Mutations for Differentiated Thyroid Cancer with Distant Metastasis
Chan Kwon Jung, Seung-Hyun Jung, Sora Jeon, Young Mun Jeong, Yourha Kim, Sohee Lee, Ja-Seong Bae, Yeun-Jun Chung
Thyroid.2020; 30(11): 1589. CrossRef
Biomarker testing for advanced lung cancer by next-generation sequencing; a valid method to achieve a comprehensive glimpse at mutational landscape
Anurag Mehta, Smreti Vasudevan, Sanjeev Kumar Sharma, Manoj Panigrahi, Moushumi Suryavanshi, Mumtaz Saifi, Ullas Batra
Applied Cancer Research.2020;[Epub] CrossRef
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
Journal of Oncology.2020; 2020: 1. CrossRef
Assembling and Validating Bioinformatic Pipelines for Next-Generation Sequencing Clinical Assays
Jeffrey A SoRelle, Megan Wachsmann, Brandi L. Cantarel
Archives of Pathology & Laboratory Medicine.2020; 144(9): 1118. CrossRef
Standard operating procedure for somatic variant refinement of sequencing data with paired tumor and normal samples
Erica K. Barnell, Peter Ronning, Katie M. Campbell, Kilannin Krysiak, Benjamin J. Ainscough, Lana M. Sheta, Shahil P. Pema, Alina D. Schmidt, Megan Richters, Kelsy C. Cotto, Arpad M. Danos, Cody Ramirez, Zachary L. Skidmore, Nicholas C. Spies, Jasreet Hun
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
Zoltán A. Mezei, Dávid Tornai, Róza Földesi, László Madar, Andrea Sümegi, Mária Papp, Péter Antal-Szalmás
Journal of Biotechnology.2019; 303: 25. CrossRef
Pharmacogenomic Testing: Clinical Evidence and Implementation Challenges
Hippman, Nislow
Journal of Personalized Medicine.2019; 9(3): 40. CrossRef
Cancer Panel Assay for Precision Oncology Clinic: Results from a 1-Year Study
Dohee Kwon, Binnari Kim, Hyeong Chan Shin, Eun Ji Kim, Sang Yun Ha, Kee-Taek Jang, Seung Tae Kim, Jeeyun Lee, Won Ki Kang, Joon Oh Park, Kyoung-Mee Kim
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
Mancini, Simi, Salvianti, Castiglione, Sonnati, Pinzani
Diagnostics.2019; 9(3): 117. CrossRef
Benchmark Database for Process Optimization and Quality Control of Clinical Cancer Panel Sequencing
Donghyeong Seong, Jongsuk Chung, Ki-Wook Lee, Sook-Young Kim, Byung-Suk Kim, Jung-Keun Song, Sungwon Jung, Taeseob Lee, Donghyun Park, Byoung-Kee Yi, Woong-Yang Park, Dae-Soon Son
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
Simon Heeke, Véronique Hofman, Elodie Long-Mira, Virginie Lespinet, Salomé Lalvée, Olivier Bordone, Camille Ribeyre, Virginie Tanga, Jonathan Benzaquen, Sylvie Leroy, Charlotte Cohen, Jérôme Mouroux, Charles Marquette, Marius Ilié, Paul Hofman
Cancers.2018; 10(4): 88. CrossRef
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
Dong Hee Seo, Jeong Min Lee, Mi Ok Park, Hyun Ju Lee, Seo Yoon Moon, Mijin Oh, So Young Kim, Sang-Heon Lee, Ki-Eun Hyeong, Hae-Jin Hu, Dae-Yeon Cho
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

First
Prev
Page of 2
Next
Last

Search