Journal of Pathology and Translational Medicine

Reviews

Clinical practice recommendations for the use of next-generation sequencing in patients with solid cancer: a joint report from KSMO and KSP: Miso Kim, Hyo Sup Shim, Sheehyun Kim, In Hee Lee, Jihun Kim, Shinkyo Yoon, Hyung-Don Kim, Inkeun Park, Jae Ho Jeong, Changhoon Yoo, Jaekyung Cheon, In-Ho Kim, Jieun Lee, Sook Hee Hong, Sehhoon Park, Hyun Ae Jung, Jin Won Kim, Han Jo Kim, Yongjun Cha, Sun Min Lim, Han Sang Kim, Choong-Kun Lee, Jee Hung Kim, Sang Hoon Chun, Jina Yun, So Yeon Park, Hye Seung Lee, Yong Mee Cho, Soo Jeong Nam, Kiyong Na, Sun Och Yoon, Ahwon Lee, Kee-Taek Jang, Hongseok Yun, Sungyoung Lee, Jee Hyun Kim, Wan-Seop Kim; Received September 15, 2023 Accepted November 1, 2023 Published online January 10, 2024; DOI: https://doi.org/10.4132/jptm.2023.11.01 [Epub ahead of print]

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Abstract PDF: In recent years, next-generation sequencing (NGS)–based genetic testing has become crucial in cancer care. While its primary objective is to identify actionable genetic alterations to guide treatment decisions, its scope has broadened to encompass aiding in pathological diagnosis and exploring resistance mechanisms. With the ongoing expansion in NGS application and reliance, a compelling necessity arises for expert consensus on its application in solid cancers. To address this demand, the forthcoming recommendations not only provide pragmatic guidance for the clinical use of NGS but also systematically classify actionable genes based on specific cancer types. Additionally, these recommendations will incorporate expert perspectives on crucial biomarkers, ensuring informed decisions regarding circulating tumor DNA panel testing.

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

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

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Cancer Medicine.2024;[Epub] CrossRef
Clinicopathologic and Molecular Characteristics of HER2 (ERBB2)-Altered Non-Small Cell Lung Cancer: Implications for Precision Medicine
Yurimi Lee, Boram Lee, Yoon-La Choi, Dong-Wook Kang, Joungho Han
Modern Pathology.2024; : 100490. CrossRef
FACILITATE: A real-world, multicenter, prospective study investigating the utility of a rapid, fully automated real-time PCR assay versus local reference methods for detecting epidermal growth factor receptor variants in NSCLC
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Problems in the Pathologic Diagnosis of Suspected Lung Cancer
Soo Han Kim, Mi-Hyun Kim, Min Ki Lee, Jung Seop Eom
Tuberculosis and Respiratory Diseases.2023; 86(3): 176. CrossRef
Mesonephric-like Adenocarcinoma of the Ovary: Clinicopathological and Molecular Characteristics
Hyun Hee Koh, Eunhyang Park, Hyun-Soo Kim
Diagnostics.2022; 12(2): 326. CrossRef
Alveolar Soft Part Sarcoma of the Uterus: Clinicopathological and Molecular Characteristics
Yurimi Lee, Kiyong Na, Ha Young Woo, Hyun-Soo Kim
Diagnostics.2022; 12(5): 1102. CrossRef
Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing
Jeonghyo Lee, Yeon Bi Han, Hyun Jung Kwon, Song Kook Lee, Hyojin Kim, Jin-Haeng Chung
Journal of Pathology and Translational Medicine.2022; 56(5): 249. CrossRef
Biomarker testing of cytology specimens in personalized medicine for lung cancer patients
Hyojin Kim, Jin-Haeng Chung
Journal of Pathology and Translational Medicine.2022; 56(6): 326. CrossRef
Usefulness of BRAF VE1 immunohistochemistry in non–small cell lung cancers: a multi-institutional study by 15 pathologists in Korea
Sunhee Chang, Yoon-La Choi, Hyo Sup Shim, Geon Kook Lee, Seung Yeon Ha
Journal of Pathology and Translational Medicine.2022; 56(6): 334. CrossRef
Lung Cancer in Korea
Sehhoon Park, Chang-Min Choi, Seung-Sik Hwang, Yoon-La Choi, Hyae Young Kim, Young-Chul Kim, Young Tae Kim, Ho Yun Lee, Si Yeol Song, Myung-Ju Ahn
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Molecular Testing of Lung Cancers: Hyo Sup Shim, Yoon-La Choi, Lucia Kim, Sunhee Chang, Wan-Seop Kim, Mee Sook Roh, Tae-Jung Kim, Seung Yeon Ha, Jin-Haeng Chung, Se Jin Jang, Geon Kook Lee; J Pathol Transl Med. 2017;51(3):242-254. Published online April 21, 2017; DOI: https://doi.org/10.4132/jptm.2017.04.10

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Abstract PDF

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

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Landscape of EGFR mutations in lung adenocarcinoma: a single institute experience with comparison of PANAMutyper testing and targeted next-generation sequencing
Jeonghyo Lee, Yeon Bi Han, Hyun Jung Kwon, Song Kook Lee, Hyojin Kim, Jin-Haeng Chung
Journal of Pathology and Translational Medicine.2022; 56(5): 249. CrossRef
Molecular biomarker testing for non–small cell lung cancer: consensus statement of the Korean Cardiopulmonary Pathology Study Group
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
TM4SF4 and LRRK2 Are Potential Therapeutic Targets in Lung and Breast Cancers through Outlier Analysis
Kyungsoo Jung, Joon-Seok Choi, Beom-Mo Koo, Yu Jin Kim, Ji-Young Song, Minjung Sung, Eun Sol Chang, Ka-Won Noh, Sungbin An, Mi-Sook Lee, Kyoung Song, Hannah Lee, Ryong Nam Kim, Young Kee Shin, Doo-Yi Oh, Yoon-La Choi
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The promises and challenges of early non‐small cell lung cancer detection: patient perceptions, low‐dose CT screening, bronchoscopy and biomarkers
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The expanding capability and clinical relevance of molecular diagnostic technology to identify and evaluate EGFR mutations in advanced/metastatic NSCLC
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Testing for EGFR Mutations and ALK Rearrangements in Advanced Non-Small-Cell Lung Cancer: Considerations for Countries in Emerging Markets
Mercedes L Dalurzo, Alejandro Avilés-Salas, Fernando Augusto Soares, Yingyong Hou, Yuan Li, Anna Stroganova, Büge Öz, Arif Abdillah, Hui Wan, Yoon-La Choi
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Treatment of Patients With Non–Small-Cell Lung Cancer Harboring Rare Oncogenic Mutations
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Clinical Lung Cancer.2020; 21(5): 395. CrossRef
Detection of Targetable Genetic Alterations in Korean Lung Cancer Patients: A Comparison Study of Single-Gene Assays and Targeted Next-Generation Sequencing
Eunhyang Park, Hyo Sup Shim
Cancer Research and Treatment.2020; 52(2): 543. CrossRef
High prevalence of ROS1 gene rearrangement detected by FISH in EGFR and ALK negative lung adenocarcinoma
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An All-In-One Transcriptome-Based Assay to Identify Therapy-Guiding Genomic Aberrations in Nonsmall Cell Lung Cancer Patients
Jiacong Wei, Anna A. Rybczynska, Pei Meng, Martijn Terpstra, Ali Saber, Jantine Sietzema, Wim Timens, Ed Schuuring, T. Jeroen N. Hiltermann, Harry. J.M. Groen, Anthonie van der Wekken, Anke van den Berg, Klaas Kok
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Immunotherapy in EGFR-Mutant and ALK-Positive Lung Cancer
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Molecular Diagnostic Assays and Clinicopathologic Implications of MET Exon 14 Skipping Mutation in Non–small-cell Lung Cancer
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The Utilization of Cytologic Fine-Needle Aspirates of Lung Cancer for Molecular Diagnostic Testing: Michael H. Roh; J Pathol Transl Med. 2015;49(4):300-309. Published online June 16, 2015; DOI: https://doi.org/10.4132/jptm.2015.06.16

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32 Web of Science
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Abstract PDF

In this era of precision medicine, our understanding and knowledge of the molecular landscape associated with lung cancer pathogenesis continues to evolve. This information is being increasingly exploited to treat advanced stage lung cancer patients with tailored, targeted therapy. During the management of these patients, minimally invasive procedures to obtain samples for tissue diagnoses are desirable. Cytologic fine-needle aspirates are often utilized for this purpose and are important not only for rendering diagnoses to subtype patients’ lung cancers, but also for ascertaining molecular diagnostic information for treatment purposes. Thus, cytologic fine-needle aspirates must be utilized and triaged judiciously to achieve both objectives. In this review, strategies in utilizing fine-needle aspirates will be discussed in the context of our current understanding of the clinically actionable molecular aberrations underlying non-small cell lung cancer and the molecular assays applied to these samples in order to obtain treatment-relevant molecular diagnostic information.

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Biomarker testing of cytology specimens in personalized medicine for lung cancer patients
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Formalin fixation for optimal concordance of programmed death‐ligand 1 immunostaining between cytologic and histologic specimens from patients with non–small cell lung cancer
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Cancer Cytopathology.2021; 129(4): 304. CrossRef
Collection and Handling of Thoracic Small Biopsy and Cytology Specimens for Ancillary Studies: Guidelines from the College of American Pathologists (CAP)
Sinchita Roy-Chowdhuri
Journal of Molecular Pathology.2021; 2(1): 23. CrossRef
A decade of change: Trends in the practice of cytopathology at a tertiary care cancer centre
Peyman Dinarvand, Chinhua Liu, Sinchita Roy‐Chowdhuri
Cytopathology.2021; 32(5): 604. CrossRef
False‐negative programmed death‐ligand 1 immunostaining in ethanol‐fixed endobronchial ultrasound‐guided transbronchial needle aspiration specimens of non‐small‐cell lung cancer patients
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Diagnostic Pathology.2020;[Epub] CrossRef
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Sinchita Roy‐Chowdhuri
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The utilization of cytologic and small biopsy samples for ancillary molecular testing
Michael H. Roh
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Diff-Quik Cytology Smears from Endobronchial Ultrasound Transbronchial Needle Aspiration Lymph Node Specimens as a Source of DNA for Next-Generation Sequencing Instead of Cell Blocks
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Salvaging the supernatant: next generation cytopathology for solid tumor mutation profiling
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Alia Gupta, Mark Micale, Kurt D. Bernacki
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Comprehensive Validation of Cytology Specimens for Next-Generation Sequencing and Clinical Practice Experience
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Advances in Molecular Testing Techniques in Cytologic Specimens
Sinchita Roy-Chowdhuri
Surgical Pathology Clinics.2018; 11(3): 669. CrossRef
Next-generation molecular diagnosis: single-cell sequencing from bench to bedside
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Big data from small samples: Informatics of next‐generation sequencing in cytopathology
Sinchita Roy‐Chowdhuri, Somak Roy, Sara E. Monaco, Mark J. Routbort, Liron Pantanowitz
Cancer Cytopathology.2017; 125(4): 236. CrossRef
Next‐generation sequencing of liquid‐based cytology non–small cell lung cancer samples
Jordan P. Reynolds, Yaolin Zhou, Maureen A. Jakubowski, Zhen Wang, Jennifer A. Brainard, Roger D. Klein, Carol F. Farver, Francisco A. Almeida, Yu‐Wei Cheng
Cancer Cytopathology.2017; 125(3): 178. CrossRef
Concurrent fine needle aspirations and core needle biopsies: a comparative study of substrates for next-generation sequencing in solid organ malignancies
Sinchita Roy-Chowdhuri, Hui Chen, Rajesh R Singh, Savitri Krishnamurthy, Keyur P Patel, Mark J Routbort, Jawad Manekia, Bedia A Barkoh, Hui Yao, Sharjeel Sabir, Russell R Broaddus, L Jeffrey Medeiros, Gregg Staerkel, John Stewart, Rajyalakshmi Luthra
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Diagnosis of anaplastic lymphoma kinase rearrangement in cytological samples through a fluorescence in situ hybridization–based assay: Cytological smears versus cell blocks
Federica Zito Marino, Giulio Rossi, Matteo Brunelli, Maria Gabriella Malzone, Giuseppina Liguori, Giuseppe Bogina, Alessandro Morabito, Gaetano Rocco, Renato Franco, Gerardo Botti
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Next‐generation sequencing of cytologic preparations: An analysis of quality metrics
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Cancer Cytopathology.2017; 125(10): 786. CrossRef
Recent advances in the pathology and molecular genetics of lung cancer: A practical review for cytopathologists
Erika F. Rodriguez, Sara E. Monaco
Journal of the American Society of Cytopathology.2016; 5(5): 252. CrossRef
Utilization of ancillary studies in the cytologic diagnosis of respiratory lesions: The papanicolaou society of cytopathology consensus recommendations for respiratory cytology
Lester J. Layfield, Sinchita Roy‐Chowdhuri, Zubair Baloch, Hormoz Ehya, Kim Geisinger, Susan J. Hsiao, Oscar Lin, Neal I. Lindeman, Michael Roh, Fernando Schmitt, Nikoletta Sidiropoulos, Paul A. VanderLaan
Diagnostic Cytopathology.2016; 44(12): 1000. CrossRef
Inflammatory myofibroblastic tumour
Michael McDermott
Seminars in Diagnostic Pathology.2016; 33(6): 358. CrossRef
Preanalytic Variables in Cytology: Lessons Learned From Next-Generation Sequencing—The MD Anderson Experience
Sinchita Roy-Chowdhuri, John Stewart
Archives of Pathology & Laboratory Medicine.2016; 140(11): 1191. CrossRef
Biomarker Testing in Lung Carcinoma Cytology Specimens: A Perspective From Members of the Pulmonary Pathology Society
Sinchita Roy-Chowdhuri, Dara L. Aisner, Timothy Craig Allen, Mary Beth Beasley, Alain Borczuk, Philip T. Cagle, Vera Capelozzi, Sanja Dacic, Gilda da Cunha Santos, Lida P. Hariri, Keith M. Kerr, Sylvie Lantuejoul, Mari Mino-Kenudson, Andre Moreira, Kirtee
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Identification of a novel partner gene, KIAA1217, fused to RET: Functional characterization and inhibitor sensitivity of two isoforms in lung adenocarcinoma
Mi-Sook Lee, Ryong Nam Kim, Hoseok I, Doo-Yi Oh, Ji-Young Song, Ka-Won Noh, Yu-Jin Kim, Jung Wook Yang, Maruja E. Lira, Chang Hun Lee, Min Ki Lee, Yeoung Dae Kim, Mao Mao, Joungho Han, Jhingook Kim, Yoon-La Choi
Oncotarget.2016; 7(24): 36101. CrossRef

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