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From articles published in Journal of Pathology and Translational Medicine during the past two years (2020 ~ ).

Reviews
HER2 status in breast cancer: changes in guidelines and complicating factors for interpretation
Soomin Ahn, Ji Won Woo, Kyoungyul Lee, So Yeon Park
J Pathol Transl Med. 2020;54(1):34-44.   Published online November 6, 2019
DOI: https://doi.org/10.4132/jptm.2019.11.03
  • 13,958 View
  • 820 Download
  • 46 Citations
AbstractAbstract PDF
Human epidermal growth factor receptor 2 (HER2) protein overexpression and/or HER2 gene amplification is found in about 20% of invasive breast cancers. It is a sole predictive marker for treatment benefits from HER2 targeted therapy and thus, HER2 testing is a routine practice for newly diagnosed breast cancer in pathology. Currently, HER2 immunohistochemistry (IHC) is used for a screening test, and in situ hybridization is used as a confirmation test for HER2 IHC equivocal cases. Since the American Society of Clinical Oncology (ASCO)/College of American Pathologists (CAP) guidelines on HER2 testing was first released in 2007, it has been updated to provide clear instructions for HER2 testing and accurate determination of HER2 status in breast cancer. During HER2 interpretation, some pitfalls such as intratumoral HER2 heterogeneity and increase in chromosome enumeration probe 17 signals may lead to inaccurate assessment of HER2 status. Moreover, HER2 status can be altered after neoadjuvant chemotherapy or during metastatic progression, due to biologic or methodologic issues. This review addresses recent updates of ASCO/CAP guidelines and factors complicating in the interpretation of HER2 status in breast cancers.

Citations

Citations to this article as recorded by  
  • Design of a Ratiometric Plasmonic Biosensor for Herceptin Detection in HER2-Positive Breast Cancer
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  • A highly sensitive nanobiosensor based on aptamer-conjugated graphene-decorated rhodium nanoparticles for detection of HER2-positive circulating tumor cells
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  • Anti-HER2 therapy in metastatic breast cancer: many choices and future directions
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    Cancer and Metastasis Reviews.2022; 41(1): 193.     CrossRef
  • Electroanalytical overview: screen-printed electrochemical sensing platforms for the detection of vital cardiac, cancer and inflammatory biomarkers
    Robert D. Crapnell, Alejandro Garcia-Miranda Ferrari, Nina C. Dempsey, Craig E. Banks
    Sensors & Diagnostics.2022; 1(3): 405.     CrossRef
  • FTO genotype was associated with breast cancer in HER2 negative patients
    Fateme Montazeri, Hossein Hatami, Soroor Fathi, Naeemeh Hasanpour Ardekanizadeh, Fatemeh Bourbour, Samira Rastgoo, Fatemeh Shafiee, Mohammad Esmail Akbari, Maryam Gholamalizadeh, Seyed Alireza Mosavi Jarrahi, Saeid Doaei
    Clinical Nutrition ESPEN.2022; 49: 495.     CrossRef
  • Breast Cancer Human Epidermal Growth Factor Receptor 2 mRNA Molecular Testing Compared to Immunohistochemistry with Correlation to Neoadjuvant Therapy Response
    Mahmoud Behairy, Samia Mohamed Gabal, Mohamed Sherif Negm
    Open Access Macedonian Journal of Medical Sciences.2022; 10(A): 352.     CrossRef
  • Validity and utility of HER2/ERBB2 copy number variation assessed in liquid biopsies from breast cancer patients: A systematic review
    Noortje Verschoor, Teoman Deger, Agnes Jager, Stefan Sleijfer, Saskia M. Wilting, John W.M. Martens
    Cancer Treatment Reviews.2022; 106: 102384.     CrossRef
  • Longitude Variation of the microRNA-497/FGF-23 Axis during Treatment and Its Linkage with Neoadjuvant/Adjuvant Trastuzumab-Induced Cardiotoxicity in HER2-Positive Breast Cancer Patients
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    Frontiers in Surgery.2022;[Epub]     CrossRef
  • Use of Radionuclide-Based Imaging Methods in Breast Cancer
    Betül Altunay, Agnieszka Morgenroth, Felix M. Mottaghy
    Seminars in Nuclear Medicine.2022; 52(5): 561.     CrossRef
  • Functional regulations between genetic alteration-driven genes and drug target genes acting as prognostic biomarkers in breast cancer
    Li Wang, Lei Yu, Jian Shi, Feng Li, Caiyu Zhang, Haotian Xu, Xiangzhe Yin, Lixia Wang, Shihua Lin, Anastasiia Litvinova, Yanyan Ping, Shangwei Ning, Hongying Zhao
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  • Human epidermal growth factor receptor-2 and endocrine resistance in hormone-dependent breast cancer
    Anastasia Alataki, Mitch Dowsett
    Endocrine-Related Cancer.2022; 29(8): R105.     CrossRef
  • The Evolution of Targeted Radionuclide Diagnosis of HER2-Positive Breast Cancer
    Olga D. Bragina, Sergei M. Deyev, Vladimir I. Chernov, Vladimir M. Tolmachev
    Acta Naturae.2022; 14(2): 4.     CrossRef
  • Deriving tumor purity from cancer next generation sequencing data: applications for quantitative ERBB2 (HER2) copy number analysis and germline inference of BRCA1 and BRCA2 mutations
    Stephanie E. Siegmund, Danielle K. Manning, Phani K. Davineni, Fei Dong
    Modern Pathology.2022; 35(10): 1458.     CrossRef
  • Current challenges and unmet needs in treating patients with human epidermal growth factor receptor 2-positive advanced breast cancer
    Matti Aapro, Fatima Cardoso, Giuseppe Curigliano, Alexandru Eniu, Joseph Gligorov, Nadia Harbeck, Andreas Mueller, Olivia Pagani, Shani Paluch-Shimon, Elzbieta Senkus, Beat Thürlimann, Khalil Zaman
    The Breast.2022; 66: 145.     CrossRef
  • Application of Fluorescence In Situ Hybridization Assisted by Fluorescence Microscope in Detection of Her2 Gene in Breast Cancer Patients
    Fang Lu, Tingting Zhou, Yan Liu, Liying Song, Bin Zhang, Yuyan Li, Sorayouth Chumnanvej
    Contrast Media & Molecular Imaging.2022; 2022: 1.     CrossRef
  • High sensitivity label-free detection of HER2 using an Al–GaN/GaN high electron mobility transistor-based biosensor
    Shivanshu Mishra, Pharyanshu Kachhawa, Amber Kumar Jain, Rajiv Ranjan Thakur, Nidhi Chaturvedi
    Lab on a Chip.2022; 22(21): 4129.     CrossRef
  • Indian Data on HER2 Fluorescence In Situ Hybridization in Invasive Breast Cancer with Immunohistochemically Equivocal Results As Per 2018 ASCO/CAP Guidelines
    B R. Nagarjun, Biren Parikh, Manaswi Nareshkumar Patel, Pina J. Trivedi, Dharmesh M. Patel
    South Asian Journal of Cancer.2022;[Epub]     CrossRef
  • S‑phase fraction, lymph node status and disease staging as the main prognostic factors to differentiate between young and older patients with invasive breast carcinoma
    António Pinto, João Matos, Teresa Pereira, Giovani Silva, Saudade André
    Oncology Letters.2022;[Epub]     CrossRef
  • Inferring tumor-specific cancer dependencies through integrating ex vivo drug response assays and drug-protein profiling
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    PLOS Computational Biology.2022; 18(8): e1010438.     CrossRef
  • Clinical possibilities of HER2-positive breast cancer diagnosis using alternative scaffold proteins
    O. D. Bragina, V. I. Chernov, S. M. Deyev, V. M. Tolmachev
    Bulletin of Siberian Medicine.2022; 21(3): 132.     CrossRef
  • Molecular Pathology of Gastric Cancer
    Moonsik Kim, An Na Seo
    Journal of Gastric Cancer.2022; 22(4): 264.     CrossRef
  • Loss of NECTIN1 triggers melanoma dissemination upon local IGF1 depletion
    Julien Ablain, Amira Al Mahi, Harriet Rothschild, Meera Prasad, Sophie Aires, Song Yang, Maxim E. Dokukin, Shuyun Xu, Michelle Dang, Igor Sokolov, Christine G. Lian, Leonard I. Zon
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  • Advanced diagnosis technologies for HER2 breast cancer markers
    Mengxue Zhang
    Highlights in Science, Engineering and Technology.2022; 14: 44.     CrossRef
  • An Overview of Clinical Development of Agents for Metastatic or Advanced Breast Cancer Without ERBB2 Amplification (HER2-Low)
    Aleix Prat, Aditya Bardia, Giuseppe Curigliano, M. Elizabeth H. Hammond, Sibylle Loibl, Sara M. Tolaney, Giuseppe Viale
    JAMA Oncology.2022; 8(11): 1676.     CrossRef
  • Development of T-cell engagers selective for cells co-expressing two antigens
    Danielle M. Dicara, Sunil Bhakta, Mary Ann Go, James Ziai, Ron Firestein, Bill Forrest, Chen Gu, Steven R. Leong, Genee Lee, Shang-Fan Yu, Andrew G. Polson, Nicholas J. Agard
    mAbs.2022;[Epub]     CrossRef
  • The clinical significance of HER2 expression in DCIS
    Ioanna Akrida, Francesk Mulita
    Medical Oncology.2022;[Epub]     CrossRef
  • Antibody-Drug Conjugates in Breast Cancer: Spotlight on HER2
    Rachel Occhiogrosso Abelman, Arielle Medford, Laura Spring, Aditya Bardia
    The Cancer Journal.2022; 28(6): 423.     CrossRef
  • HER2-directed antibodies, affibodies and nanobodies as drug-delivery vehicles in breast cancer with a specific focus on radioimmunotherapy and radioimmunoimaging
    Betül Altunay, Agnieszka Morgenroth, Mohsen Beheshti, Andreas Vogg, Nicholas C. L. Wong, Hong Hoi Ting, Hans-Jürgen Biersack, Elmar Stickeler, Felix M. Mottaghy
    European Journal of Nuclear Medicine and Molecular Imaging.2021; 48(5): 1371.     CrossRef
  • Risk-based decision-making in the treatment of HER2-positive early breast cancer: Recommendations based on the current state of knowledge
    Christian Jackisch, Patricia Cortazar, Charles E. Geyer, Luca Gianni, Joseph Gligorov, Zuzana Machackova, Edith A. Perez, Andreas Schneeweiss, Sara M. Tolaney, Michael Untch, Andrew Wardley, Martine Piccart
    Cancer Treatment Reviews.2021; 99: 102229.     CrossRef
  • Histologic Patterns of Cutaneous Metastases of Breast Carcinoma: A Clinicopathologic Study of 232 Cases
    Shira Ronen, David Suster, Wei-Shen Chen, Natali Ronen, Sri Krishna C. Arudra, Celestine Trinidad, Doina Ivan, Victor G. Prieto, Saul Suster
    The American Journal of Dermatopathology.2021; 43(6): 401.     CrossRef
  • Standardized pathology report for breast cancer
    Soo Youn Cho, So Yeon Park, Young Kyung Bae, Jee Yeon Kim, Eun Kyung Kim, Woo Gyeong Kim, Youngmee Kwon, Ahwon Lee, Hee Jin Lee, Ji Shin Lee, Jee Young Park, Gyungyub Gong, Hye Kyoung Yoon
    Journal of Pathology and Translational Medicine.2021; 55(1): 1.     CrossRef
  • The impact of oral contraceptive use on breast cancer risk: State of the art and future perspectives in the era of 4P medicine
    R. Bonfiglio, M.L. Di Pietro
    Seminars in Cancer Biology.2021; 72: 11.     CrossRef
  • The Co-Expression of Melanoma-Antigen Family a Proteins and New York Esophageal Squamous Cell Carcinoma-1 in Breast Cancer: A Pilot Study
    Yu-Xin Wang, Feng-Lian Li, Li-Xin Du, Jun-Fang Liu, Li-Gang Huo, Shu-Qing Li, Bin Tian
    Cancer Management and Research.2021; Volume 13: 6123.     CrossRef
  • Targeting HER2 protein in individual cells using ICP-MS detection and its potential as prognostic and predictive breast cancer biomarker
    A. Fernández Asensio, M. Corte-Rodríguez, J. Bettmer, L.M. Sierra, M. Montes-Bayón, E. Blanco- González
    Talanta.2021; 235: 122773.     CrossRef
  • Development of a 99mTc-Labeled Single-Domain Antibody for SPECT/CT Assessment of HER2 Expression in Breast Cancer
    Lingzhou Zhao, Changcun Liu, Yan Xing, Jin He, Jim O’Doherty, Wenhua Huang, Jinhua Zhao
    Molecular Pharmaceutics.2021; 18(9): 3616.     CrossRef
  • WITHDRAWN: Nouvelles stratégies thérapeutiques dans les cancers du sein HER2-surexprimé
    Benoîte Mery, Philippe Toussaint, Pierre-Etienne Heudel, Armelle Dufresne, Mélodie Carbonnaux, Hélène Vanacker, Thomas Bachelot, Olivier Trédan
    Bulletin du Cancer.2021;[Epub]     CrossRef
  • Retrospective observational study of HER2 immunohistochemistry in borderline breast cancer patients undergoing neoadjuvant therapy, with an emphasis on Group 2 (HER2/CEP17 ratio ≥2.0, HER2 copy number <4.0 signals/cell) cases
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    British Journal of Cancer.2021; 124(11): 1836.     CrossRef
  • Loss of HER2‐positivity following neoadjuvant targeted therapy for breast cancer is not associated with inferior oncologic outcomes
    Catherine L. Wetzel, Thomas L. Sutton, Stuart Gardiner, Maryam Farinola, Nathalie Johnson, Jennifer R. Garreau
    Journal of Surgical Oncology.2021; 124(8): 1224.     CrossRef
  • Clinical and Genetic Predictive Models for the Prediction of Pathological Complete Response to Optimize the Effectiveness for Trastuzumab Based Chemotherapy
    Lun Li, Min Chen, Shuyue Zheng, Hanlu Li, Weiru Chi, Bingqiu Xiu, Qi Zhang, Jianjing Hou, Jia Wang, Jiong Wu
    Frontiers in Oncology.2021;[Epub]     CrossRef
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    Thoracic Cancer.2021; 12(17): 2314.     CrossRef
  • Detection of secondary metastatic breast cancer by measurement of plasma CA 15.3
    L. De Cock, J. Heylen, A. Wildiers, K. Punie, A. Smeets, C. Weltens, P. Neven, J. Billen, A. Laenen, H. Wildiers
    ESMO Open.2021; 6(4): 100203.     CrossRef
  • Standardized Pathology Report for Breast Cancer
    Soo Youn Cho, So Yeon Park, Young Kyung Bae, Jee Yeon Kim, Eun Kyung Kim, Woo Gyeong Kim, Youngmee Kwon, Ahwon Lee, Hee Jin Lee, Ji Shin Lee, Jee Young Park, Gyungyub Gong, Hye Kyoung Yoon
    Journal of Breast Cancer.2021; 24(1): 1.     CrossRef
  • Circular RNA circ-ERBB2 promotes HER2-positive breast cancer progression and metastasis via sponging miR-136-5p and miR-198
    Jin-xiu Zhong, Yun-yuan Kong, Rong-guang Luo, Guo-jin Xia, Wen-xing He, Xue-zhong Chen, Wei-wei Tan, Qing-jie Chen, Yu-yin Huang, Yan-xing Guan
    Journal of Translational Medicine.2021;[Epub]     CrossRef
  • Nouvelles stratégies thérapeutiques dans les cancers du sein HER2-surexprimé
    Benoîte Mery, Philippe Toussaint, Pierre-Etienne Heudel, Armelle Dufresne, Mélodie Carbonnaux, Hélène Vanacker, Thomas Bachelot, Olivier Trédan
    Bulletin du Cancer.2021; 108(11): 11S8.     CrossRef
  • UCNP-based Photoluminescent Nanomedicines for Targeted Imaging and Theranostics of Cancer
    Evgenii L. Guryev, Anita S. Smyshlyaeva, Natalia Y. Shilyagina, Evgeniya A. Sokolova, Samah Shanwar, Alexey B. Kostyuk, Alexander V. Lyubeshkin, Alexey A. Schulga, Elena V. Konovalova, Quan Lin, Indrajit Roy, Irina V. Balalaeva, Sergey M. Deyev, Andrei V.
    Molecules.2020; 25(18): 4302.     CrossRef
  • Impact of the Updated Guidelines on Human Epidermal Growth Factor Receptor 2 (HER2) Testing in Breast Cancer
    Min Chong Kim, Su Hwan Kang, Jung Eun Choi, Young Kyung Bae
    Journal of Breast Cancer.2020; 23(5): 484.     CrossRef
Tumor immune response and immunotherapy in gastric cancer
Yoonjin Kwak, An Na Seo, Hee Eun Lee, Hye Seung Lee
J Pathol Transl Med. 2020;54(1):20-33.   Published online November 1, 2019
DOI: https://doi.org/10.4132/jptm.2019.10.08
  • 11,071 View
  • 676 Download
  • 37 Citations
AbstractAbstract PDF
Remarkable developments in immuno-oncology have changed the landscape of gastric cancer (GC) treatment. Because immunotherapy intervenes with tumor immune response rather than directly targeting tumor cells, it is important to develop a greater understanding of tumor immunity. This review paper summarizes the tumor immune reaction and immune escape mechanisms while focusing on the role of T cells and their co-inhibitory signals, such as the immune checkpoint molecules programmed death-1 and programmed deathligand 1 (PD-L1). This paper also describes past clinical trials of immunotherapy for patients with GC and details their clinical implications. Strong predictive markers are essential to improve response to immunotherapy. Microsatellite instability, Epstein-Barr virus, PD-L1 expression, and tumor mutational burden are now regarded as potent predictive markers for immunotherapy in patients with GC. Novel immunotherapy and combination therapy targeting new immune checkpoint molecules such as lymphocyte-activation gene 3, T cell immunoglobulin, and mucin domain containing-3, and indoleamine 2,3-dioxygenase have been suggested, and trials are ongoing to evaluate their safety and efficacy. Immunotherapy is an important treatment option for patients with GC and has great potential for improving patient outcome, and further research in immuno-oncology should be carried out.

Citations

Citations to this article as recorded by  
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Introduction to digital pathology and computer-aided pathology
Soojeong Nam, Yosep Chong, Chan Kwon Jung, Tae-Yeong Kwak, Ji Youl Lee, Jihwan Park, Mi Jung Rho, Heounjeong Go
J Pathol Transl Med. 2020;54(2):125-134.   Published online February 13, 2020
DOI: https://doi.org/10.4132/jptm.2019.12.31
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  • 35 Citations
AbstractAbstract PDF
Digital pathology (DP) is no longer an unfamiliar term for pathologists, but it is still difficult for many pathologists to understand the engineering and mathematics concepts involved in DP. Computer-aided pathology (CAP) aids pathologists in diagnosis. However, some consider CAP a threat to the existence of pathologists and are skeptical of its clinical utility. Implementation of DP is very burdensome for pathologists because technical factors, impact on workflow, and information technology infrastructure must be considered. In this paper, various terms related to DP and computer-aided pathologic diagnosis are defined, current applications of DP are discussed, and various issues related to implementation of DP are outlined. The development of computer-aided pathologic diagnostic tools and their limitations are also discussed.

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2019 Practice guidelines for thyroid core needle biopsy: a report of the Clinical Practice Guidelines Development Committee of the Korean Thyroid Association
Chan Kwon Jung, Jung Hwan Baek, Dong Gyu Na, Young Lyun Oh, Ka Hee Yi, Ho-Cheol Kang
J Pathol Transl Med. 2020;54(1):64-86.   Published online January 15, 2020
DOI: https://doi.org/10.4132/jptm.2019.12.04
  • 16,056 View
  • 701 Download
  • 19 Citations
AbstractAbstract PDF
Ultrasound-guided core needle biopsy (CNB) has been increasingly used for the pre-operative diagnosis of thyroid nodules. Since the Korean Society of the Thyroid Radiology published the ‘Consensus Statement and Recommendations for Thyroid CNB’ in 2017 and the Korean Endocrine Pathology Thyroid CNB Study Group published ‘Pathology Reporting of Thyroid Core Needle Biopsy’ in 2015, advances have occurred rapidly not only in the management guidelines for thyroid nodules but also in the diagnostic terminology and classification schemes. The Clinical Practice Guidelines Development Committee of the Korean Thyroid Association (KTA) reviewed publications on thyroid CNB from 1995 to September 2019 and updated the recommendations and statements for the diagnosis and management of thyroid nodules using CNB. Recommendations for the resolution of clinical controversies regarding the use of CNB were based on expert opinion. These practical guidelines include recommendations and statements regarding indications for CNB, patient preparation, CNB technique, biopsy-related complications, biopsy specimen preparation and processing, and pathology interpretation and reporting of thyroid CNB.

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Standardized Pathology Report for Colorectal Cancer, 2nd Edition
Baek-hui Kim, Joon Mee Kim, Gyeong Hoon Kang, Hee Jin Chang, Dong Wook Kang, Jung Ho Kim, Jeong Mo Bae, An Na Seo, Ho Sung Park, Yun Kyung Kang, Kyung-Hwa Lee, Mee Yon Cho, In-Gu Do, Hye Seung Lee, Hee Kyung Chang, Do Youn Park, Hyo Jeong Kang, Jin Hee Sohn, Mee Soo Chang, Eun Sun Jung, So-Young Jin, Eunsil Yu, Hye Seung Han, Youn Wha Kim
J Pathol Transl Med. 2020;54(1):1-19.   Published online November 13, 2019
DOI: https://doi.org/10.4132/jptm.2019.09.28
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AbstractAbstract PDFSupplementary Material
The first edition of the ‘Standardized Pathology Report for Colorectal Cancer,’ which was developed by the Gastrointestinal Pathology Study Group (GIP) of the Korean Society of Pathologists, was published 13 years ago. Meanwhile, there have been many changes in the pathologic diagnosis of colorectal cancer (CRC), pathologic findings included in the pathology report, and immunohistochemical and molecular pathology required for the diagnosis and treatment of colorectal cancer. In order to reflect these changes, we (GIP) decided to make the second edition of the report. The purpose of this standardized pathology report is to provide a practical protocol for Korean pathologists, which could help diagnose and treat CRC patients. This report consists of “standard data elements” and “conditional data elements.” Basic pathologic findings and parts necessary for prognostication of CRC patients are classified as “standard data elements,” while other prognostic factors and factors related to adjuvant therapy are classified as “conditional data elements” so that each institution could select the contents according to the characteristics of the institution. The Korean version is also provided separately so that Korean pathologists can easily understand and use this report. We hope that this report will be helpful in the daily practice of CRC diagnosis.

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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
  • 11,172 View
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  • 17 Citations
AbstractAbstract 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.

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    Abdalrahman Nassar, Volodymyr Smolanka, Andriy Smolanka, Dipak Chaulagain, Oleg Devinyak
    Neurosurgical Review.2022; 45(4): 2951.     CrossRef
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    Wenjie Peng, Pei Wu, Minghao Yuan, Bo Yuan, Lian Zhu, Jiesong Zhou, Qian Li
    Frontiers in Oncology.2022;[Epub]     CrossRef
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    Zhao-Lin Wang, Jian-Hui Mou, Dong Sun, Peng Liu
    Frontiers in Surgery.2022;[Epub]     CrossRef
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    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
  • 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
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    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
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    Christian Ogasawara, Brandon D. Philbrick, D. Cory Adamson
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    Minsun Jung, Seong-Ik Kim, Ka Young Lim, Jeongmo Bae, Chul-Kee Park, Seung Hong Choi, Sung-Hye Park, Jae-Kyung Won
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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
  • 5,004 View
  • 143 Download
  • 13 Citations
AbstractAbstract 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

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  • BRAF V600E 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
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  • 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
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    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
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    Paula Soares, Antónia Afonso Póvoa, Miguel Melo, João Vinagre, Valdemar Máximo, Catarina Eloy, José Manuel Cameselle-Teijeiro, Manuel Sobrinho-Simões
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    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
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    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
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    Yun-Suk Choi, Seong-Woon Choi, Jin-Wook Yi
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    Jolanta Krajewska, Aleksandra Kukulska, Malgorzata Oczko-Wojciechowska, Agnieszka Kotecka-Blicharz, Katarzyna Drosik-Rutowicz, Malgorzata Haras-Gil, Barbara Jarzab, Daria Handkiewicz-Junak
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Prediction of TP53 mutations by p53 immunohistochemistry and their prognostic significance in gastric cancer
Hye Jung Hwang, Soo Kyung Nam, Hyunjin Park, Yujun Park, Jiwon Koh, Hee Young Na, Yoonjin Kwak, Woo Ho Kim, Hye Seung Lee
J Pathol Transl Med. 2020;54(5):378-386.   Published online July 1, 2020
DOI: https://doi.org/10.4132/jptm.2020.06.01
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  • 198 Download
  • 12 Citations
AbstractAbstract PDFSupplementary Material
Background
Recently, molecular classifications of gastric cancer (GC) have been proposed that include TP53 mutations and their functional activity. We aimed to demonstrate the correlation between p53 immunohistochemistry (IHC) and TP53 mutations as well as their clinicopathological significance in GC.
Methods
Deep targeted sequencing was performed using surgical or biopsy specimens from 120 patients with GC. IHC for p53 was performed and interpreted as strong, weak, or negative expression. In 18 cases (15.0%) with discrepant TP53 mutation and p53 IHC results, p53 IHC was repeated.
Results
Strong expression of p53 was associated with TP53 missense mutations, negative expression with other types of mutations, and weak expression with wild-type TP53 (p<.001). The sensitivity for each category was 90.9%, 79.0%, and 80.9%, and the specificity was 95.4%, 88.1%, and 92.3%, respectively. The TNM stage at initial diagnosis exhibited a significant correlation with both TP53 mutation type (p=.004) and p53 expression status (p=.029). The Kaplan-Meier survival analysis for 109 stage II and III GC cases showed that patients with TP53 missense mutations had worse overall survival than those in the wild-type and other mutation groups (p=.028). Strong expression of p53 was also associated with worse overall survival in comparison to negative and weak expression (p=.035).
Conclusions
Results of IHC of the p53 protein may be used as a simple surrogate marker of TP53 mutations. However, negative expression of p53 and other types of mutations of TP53 should be carefully interpreted because of its lower sensitivity and different prognostic implications.

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Reviews
Evolving pathologic concepts of serrated lesions of the colorectum
Jung Ho Kim, Gyeong Hoon Kang
J Pathol Transl Med. 2020;54(4):276-289.   Published online June 26, 2020
DOI: https://doi.org/10.4132/jptm.2020.04.15
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  • 12 Citations
AbstractAbstract PDFSupplementary Material
Here, we provide an up-to-date review of the histopathology and molecular pathology of serrated colorectal lesions. First, we introduce the updated contents of the 2019 World Health Organization classification for serrated lesions. The sessile serrated lesion (SSL) is a new diagnostic terminology that replaces sessile serrated adenoma and sessile serrated polyp. The diagnostic criteria for SSL were revised to require only one unequivocal distorted serrated crypt, which is sufficient for diagnosis. Unclassified serrated adenomas have been included as a new category of serrated lesions. Second, we review ongoing issues concerning the morphology of serrated lesions. Minor morphologic variants with distinct molecular features were recently defined, including serrated tubulovillous adenoma, mucin-rich variant of traditional serrated adenoma (TSA), and superficially serrated adenoma. In addition to intestinal dysplasia and serrated dysplasia, minimal deviation dysplasia and not otherwise specified dysplasia were newly suggested as dysplasia subtypes of SSLs. Third, we summarize the molecular features of serrated lesions. The critical determinant of CpG island methylation development in SSLs is patient age. Interestingly, there may be ethnic differences in BRAF/KRAS mutation frequencies in SSLs. The molecular pathogenesis of TSAs is divided into KRAS and BRAF mutation pathways. SSLs with MLH1 methylation can progress into favorable prognostic microsatellite instability-positive (MSI+)/CpG island methylator phenotype-positive (CIMP+) carcinomas, whereas MLH1-unmethylated SSLs and BRAF-mutated TSAs can be precursors of poor-prognostic MSI−/CIMP+ carcinomas. Finally, based on our recent data, we propose an algorithm for stratifying risk subgroups of non-dysplastic SSLs.

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Current status and future perspectives of liquid biopsy in non-small cell lung cancer
Sunhee Chang, Jae Young Hur, Yoon-La Choi, Chang Hun Lee, Wan Seop Kim
J Pathol Transl Med. 2020;54(3):204-212.   Published online April 15, 2020
DOI: https://doi.org/10.4132/jptm.2020.02.27
  • 5,957 View
  • 252 Download
  • 11 Citations
AbstractAbstract PDF
With advances in target therapy, molecular analysis of tumors is routinely required for treatment decisions in patients with advanced non-small cell lung cancer (NSCLC). Liquid biopsy refers to the sampling and analysis of circulating cell-free tumor DNA (ctDNA) in various body fluids, primarily blood. Because the technique is minimally invasive, liquid biopsies are the future in cancer management. Epidermal growth factor receptor (EGFR) ctDNA tests have been performed in routine clinical practice in advanced NSCLC patients to guide tyrosine kinase inhibitor treatment. In the near future, liquid biopsy will be a crucial prognostic, predictive, and diagnostic method in NSCLC. Here we present the current status and future perspectives of liquid biopsy in NSCLC.

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Original Articles
Analysis of the molecular subtypes of preoperative core needle biopsy and surgical specimens in invasive breast cancer
Ye Sul Jeong, Jun Kang, Jieun Lee, Tae-Kyung Yoo, Sung Hun Kim, Ahwon Lee
J Pathol Transl Med. 2020;54(1):87-94.   Published online November 13, 2019
DOI: https://doi.org/10.4132/jptm.2019.10.14
  • 4,698 View
  • 177 Download
  • 11 Citations
AbstractAbstract PDF
Background
Accurate molecular classification of breast core needle biopsy (CNB) tissue is important for determining neoadjuvant systemic therapies for invasive breast cancer. The researchers aimed to evaluate the concordance rate (CR) of molecular subtypes between CNBs and surgical specimens.
Methods
This study was conducted with invasive breast cancer patients who underwent surgery after CNB at Seoul St. Mary’s Hospital between December 2014 and December 2017. Estrogen receptor (ER), progesterone receptor (PR), human epidermal growth factor receptor 2 (HER2), and Ki67 were analyzed using immunohistochemistry. ER and PR were evaluated by Allred score (0–8). HER2 was graded from 0 to +3, and all 2+ cases were reflex tested with silver in situ hybridization. The labeling index of Ki67 was counted by either manual scoring or digital image analysis. Molecular subtypes were classified using the above surrogate markers.
Results
In total, 629 patients were evaluated. The CRs of ER, PR, HER2, and Ki67 were 96.5% (kappa, 0.883; p<.001), 93.0% (kappa, 0.824; p<.001), 99.7% (kappa, 0.988; p<.001), and 78.7% (kappa, 0.577; p<.001), respectively. Digital image analysis of Ki67 in CNB showed better concordance with Ki67 in surgical specimens (CR, 82.3%; kappa, 0.639 for digital image analysis vs. CR, 76.2%; kappa, 0.534 for manual counting). The CRs of luminal A, luminal B, HER2, and triple negative types were 89.0%, 70.0%, 82.9%, and 77.2%, respectively.
Conclusions
CNB was reasonably accurate for determining ER, PR, HER2, Ki67, and molecular subtypes. Using digital image analysis for Ki67 in CNB produced more accurate molecular classifications.

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  • Concordance between core needle biopsy and surgical excision specimens for Ki‐67 in breast cancer – a systematic review of the literature
    Jahnavi Kalvala, Ruth M Parks, Andrew R Green, Kwok‐Leung Cheung
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  • İnvaziv Meme Kanserinde Preoperatif Kor İğne Biyopsi ile Postoperatif Cerrahi Spesmenler Arasında ER, PR, HER2 ve Ki67 Açısından Karşılaştırma
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    Shuai Li, Xiaosong Chen, Kunwei Shen
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    Meejung Kim, Bong Joo Kang, Ga Eun Park
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    Christian Jackisch, Patricia Cortazar, Charles E. Geyer, Luca Gianni, Joseph Gligorov, Zuzana Machackova, Edith A. Perez, Andreas Schneeweiss, Sara M. Tolaney, Michael Untch, Andrew Wardley, Martine Piccart
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Programmed death-ligand 1 expression and its correlation with clinicopathological parameters in gallbladder cancer
Ji Hye Kim, Kyungbin Kim, Misung Kim, Young Min Kim, Jae Hee Suh, Hee Jeong Cha, Hye Jeong Choi
J Pathol Transl Med. 2020;54(2):154-164.   Published online February 10, 2020
DOI: https://doi.org/10.4132/jptm.2019.11.13
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  • 10 Citations
AbstractAbstract PDF
Background
Immunomodulatory therapies targeting the interaction between programmed cell death protein 1 and programmed death-ligand 1 (PD-L1) have become increasingly important in anticancer treatment. Previous research on the subject of this immune response has established an association with tumor aggressiveness and a poor prognosis in certain cancers. Currently, scant information is available on the relationship between PD-L1 expression and gallbladder cancer (GBC).
Methods
We investigated the expression of PD-L1 in 101 primary GBC cases to determine the potential association with prognostic impact. PD-L1 expression was immunohistochemically assessed using a single PD-L1 antibody (clone SP263). Correlations with clinicopathological parameters, overall survival (OS), or progression- free survival (PFS) were analyzed.
Results
PD-L1 expression in tumor cells at cutoff levels of 1%, 10%, and 50% was present in 18.8%, 13.8%, and 7.9% of cases. Our study showed that positive PD-L1 expression at any cutoff was significantly correlated with poorly differentiated histologic grade and the presence of lymphovascular invasion (p < .05). PD-L1 expression at cutoff levels of 10% and 50% was significantly positive in patients with perineural invasion, higher T categories, and higher pathologic stages (p < .05). Additionally, there was a significant association noted between PD-L1 expression at a cutoff level of 50% and worse OS or PFS (p = .049 for OS, p = .028 for PFS). Other poor prognostic factors included histologic grade, T category, N category, pathologic stage, lymphovascular invasion, perineural invasion, growth pattern, and margin of resection (p < .05).
Conclusions
The expression of PD-L1 in GBC varies according to cutoff level but is valuably associated with poor prognostic parameters and survival. Our study indicates that the overexpression of PD-L1 in GBC had a negative prognostic impact.

Citations

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    Thomas Albrecht, Fritz Brinkmann, Michael Albrecht, Anke S. Lonsdorf, Arianeb Mehrabi, Katrin Hoffmann, Yakup Kulu, Alphonse Charbel, Monika N. Vogel, Christian Rupp, Bruno Köhler, Christoph Springfeld, Peter Schirmacher, Stephanie Roessler, Benjamin Goep
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    Pallavi A. Patil, Kara Lombardo, Weibiao Cao
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    Matteo Canale, Manlio Monti, Ilario Giovanni Rapposelli, Paola Ulivi, Francesco Giulio Sullo, Giulia Bartolini, Elisa Tiberi, Giovanni Luca Frassineti
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Clinicopathologic characteristics of HER2-positive pure mucinous carcinoma of the breast
Yunjeong Jang, Hera Jung, Han-Na Kim, Youjeong Seo, Emad Alsharif, Seok Jin Nam, Seok Won Kim, Jeong Eon Lee, Yeon Hee Park, Eun Yoon Cho, Soo Youn Cho
J Pathol Transl Med. 2020;54(1):95-102.   Published online November 13, 2019
DOI: https://doi.org/10.4132/jptm.2019.10.24
  • 5,382 View
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  • 10 Citations
AbstractAbstract PDF
Background
Pure mucinous carcinoma (PMC) is a rare type of breast cancer, estimated to represent 2% of invasive breast cancer. PMC is typically positive for estrogen receptors (ER) and progesterone receptors (PR) and negative for human epidermal growth factor receptor 2 (HER2). The clinicopathologic characteristics of HER2-positive PMC have not been investigated.
Methods
Pathology archives were searched for PMC diagnosed from January 1999 to April 2018. Clinicopathologic data and microscopic findings were reviewed and compared between HER2-positive PMC and HER2-negative PMC. We also analyzed the differences in disease-free survival (DFS) and overall survival according to clinicopathologic parameters including HER2 status in overall PMC cases.
Results
There were 21 HER2-positive cases (4.8%) in 438 PMCs. The average tumor size of HER2-positive PMC was 32.21 mm (± 26.55). Lymph node metastasis was present in seven cases. Compared to HER2-negative PMC, HER2-positive PMC presented with a more advanced T category (p < .001), more frequent lymph node metastasis (p = .009), and a higher nuclear and histologic grade (p < .001). Microscopically, signet ring cells were frequently observed in HER2-positive PMC (p < .001), whereas a micropapillary pattern was more frequent in HER2-negative PMC (p = .012). HER2-positive PMC was more frequently negative for ER (33.3% vs. 1.2%) and PR (28.6% vs. 7.2%) than HER2-negative PMC and showed a high Ki-67 labeling index. During follow-up, distant metastasis and recurrence developed in three HER2-positive PMC patients. Multivariate analysis revealed that only HER2-positivity and lymph node status were significantly associated with DFS.
Conclusions
Our results suggest that HER2-positive PMC is a more aggressive subgroup of PMC. HER2 positivity should be considered for adequate management of PMC.

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Review
Clinicopathological characteristics of BRCA-associated breast cancer in Asian patients
Eun-Kyu Kim, So Yeon Park, Sung-Won Kim
J Pathol Transl Med. 2020;54(4):265-275.   Published online May 14, 2020
DOI: https://doi.org/10.4132/jptm.2020.04.07
  • 4,814 View
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  • 9 Citations
AbstractAbstract PDF
BRCA1/2 germline mutations account for the majority of hereditary breast cancers. Since the identification of the BRCA genes, several attempts have been made to define the clinicopathological characteristics of BRCA-associated breast cancer in comparison with sporadic breast cancer. Asians constitute 60% of the world population, and although the incidence of breast cancer in Asia remains low compared to the West, breast cancer is the most prevalent female cancer in the region. The epidemiological aspects of breast cancer are different between Asians and Caucasians. Asian patients present with breast cancer at a younger age than Western patients. The contributions of BRCA1/2 mutations to breast cancer incidence are expected to differ between Asians and Caucasians, and the different genetic backgrounds among races are likely to influence the breast cancer phenotypes. However, most large-scale studies on the clinicopathological characteristics of BRCA-associated breast cancer have been on Western patients, while studies on Asian populations were small and sporadic. In this review, we provide an overview of the clinical and pathological characteristics of BRCA-associated breast cancer, incorporating findings on Asian patients.

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Original Article
Prevalence of high-risk human papillomavirus and its genotype distribution in head and neck squamous cell carcinomas
Yuil Kim, Young-Hoon Joo, Min-Sik Kim, Youn Soo Lee
J Pathol Transl Med. 2020;54(5):411-418.   Published online July 21, 2020
DOI: https://doi.org/10.4132/jptm.2020.06.22
  • 5,189 View
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  • 8 Citations
AbstractAbstract PDF
Background
High-risk (HR) human papillomavirus (HPV) is found in a subset of head and neck (HN) squamous cell carcinomas (SCCs). For oropharyngeal SCCs, HR HPV positivity is known to be associated with good prognosis, and a separate staging system for HPV-associated carcinomas using p16 immunohistochemistry (IHC) as a surrogate test has been adopted in the 8th American Joint Committee on Cancer staging system. We examined the HR HPV status and the genotype distribution in five HN subsites.
Methods
Formalin-fixed paraffin-embedded tissue sections were used for p16 IHC and DNA extraction. HPV DNA detection and genotyping were done employing either a DNA chip-based or real-time polymerase chain reaction–based method.
Results
During 2011–2019, a total of 466 SCCs were tested for HPV DNA with 34.1% positivity for HR HPV. Among HN subsites, the oropharynx showed the highest HR HPV prevalence (149/205, 75.1%), followed by the sinonasal tract (3/14, 21.4%), larynx (5/43, 11.6%), hypopharynx (1/38, 2.6%), and oral cavity (1/166, 0.6%). The most common HPV genotype was HPV16 (84.3%) followed by HPV35 (6.9%) and HPV33 (4.4%). Compared with HR HPV status, the sensitivity and specificity of p16 IHC were 98.6% and 94.3% for the oropharynx, and 99.2% and 93.8% for the tonsil, respectively.
Conclusions
Using a Korean dataset, we confirmed that HR HPV is most frequently detected in oropharyngeal SCCs. p16 positivity showed a good concordance with HR HPV DNA for oropharyngeal and especially tonsillar carcinomas. The use of p16 IHC may further be extended to predict HR HPV positivity in sinonasal tract SCCs.

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JPTM : Journal of Pathology and Translational Medicine