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Review Article

혈액암 체세포 변이의 해석과 보고에 대한 권고안

Recommendations for Interpretation and Reporting of Somatic Variants in Hematologic Malignancies

윤정1·박민승2·김보람3·이재준4·김현영3

고려대학교 구로병원 진단검사의학과1, 성균관대학교 강북삼성병원 진단검사의학과2, 성균관대학교 삼성서울병원 진단검사의학과3, 씨젠의료재단 진단검사의학과4

Jung Yoon, M.D.1, Min-Seung Park, M.D.2, Boram Kim, M.D.3, JaeJoon Lee, M.D.4, Hyun-Young Kim, M.D. 3

Department of Laboratory Medicine1, Korea University Guro Hospital, Korea University College of Medicine, Seoul; Department of Laboratory Medicine2, Kangbuk Samsung Hospital, Sungkyunkwan University School of Medicine, Seoul; Department of Laboratory Medicine and Genetics3, Samsung Medical Center, Sungkyunkwan University School of Medicine, Seoul; Department of Laboratory Medicine4, Seegene Medical Foundation, Seoul, Korea

Correspondence to:
Hyun-Young Kim, M.D., Ph.D.
https://orcid.org/0000-0003-0553-7096
Department of Laboratory Medicine and Genetics, Samsung Medical Center, Sungkyunkwan University School of Medicine, 81 Irwon-ro, Gangnam-gu, Seoul 06351, Korea
Tel: +82-2-3410-1338, Fax: +82-2-3410-2719, E-mail: hysck.kim@gmail.com
Received: May 20, 2024; Revised: May 20, 2024; Accepted: July 1, 2024

This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License (http://creativecommons.org/licenses/by-nc/4.0/) which permits unrestricted non-commercial use, distribution, and reproduction in any medium, provided the original work is properly cited.

Lab Med Online 2024; 14(4): 297-310

Published October 1, 2024 https://doi.org/10.47429/lmo.2024.14.4.297

Copyright © The Korean Society for Laboratory Medicine.

Abstract

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혈액암, 특히 골수성종양에서 차세대염기분석검사가 필수 임상검사로 자리 매김함으로써 다양하게 검출되는 변이 중 임상적으로 의미있는 변이를 확인하는 일은 점점 중요해지고 있다. 본 연구에서는 혈액암에서 관찰되는 체세포 변이의 해석을 위하여 다양한 가이드라인을 검토하여 변이의 발암성과 임상적 적용가능성 측면에서 각각의 분류 지침 및 변이의 보고지침을 제시하고 혈액암 변이 해석에 대한 국내 현황을 확인하였다. 본 지침이 국내 혈액암 체세포 변이의 해석 및 보고의 표준화를 위한 기반이 되었으면 한다.
Next-generation sequencing has become an essential clinical test for hematologic malignancies, especially myeloid neoplasms, making the identification of clinically significant variants increasingly important. In this review, we discuss various guidelines for the interpretation of somatic variants observed in hematologic malignancies, presenting classification criteria and reporting guidelines for each variant based on oncogenicity and clinical actionability. Additionally, we examine the status of variant interpretation in hematologic malignancies in Korea. We aim for these recommendations to serve as a foundation for the standardization of somatic variant interpretation and reporting in hematologic malignancies in Korea.

Keywords

Hematologic malignancy, Somatic variants, Oncogenicity, Pathogenicity, Clinical actionability, Interpretation

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