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차세대염기서열분석법을 이용한 급성림프모구백혈병 미세잔존질환 검사의 해석과 결과 보고에 대한 권고안
Interpreting and Reporting Minimal Residual Disease Testing Data for Acute Lymphoblastic Leukemia Patients Using Next-Generation Sequencing
울산대학교 의과대학 서울아산병원 진단검사의학과
Department of Laboratory Medicine, Asan Medical Center, University of Ulsan College of Medicine, Seoul, Korea
Correspondence to:Received: May 19, 2024; Revised: August 5, 2024; Accepted: August 7, 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): 287-296
Published October 1, 2024 https://doi.org/10.47429/lmo.2024.14.4.287
Copyright © The Korean Society for Laboratory Medicine.
차세대염기서열분석법을 이용한 IG, TCR 유전자 재배열검사는 ALL의 MRD 측정에 매우 예민하고 특이적인 방법이다. 검사실은 백혈병 클론을 잘 대표하는 index sequence를 검출, 선정하고, MRD 검체에서 이를 검출, 정량하여 검출한계, 최저정량한계를 고려하여 해석, 보고하여야 한다. 동시에 클론 진화에 의한 새로운 클론성 재배열의 출현도 검출, 보고할 수 있어야 한다. 본 권고안은 국내 임상검사실에서 시행하고 있는 ALL 환자에서의 차세대염기서열분석 IG, TCR 유전자 재배열 검사를 이용한 MRD 검사의 결과 해석 및 보고에 있어서 고려하고 갖추어야 할 사항을 제시하여, 진료에 유용한 정보를 제공하고자 작성되었다.
Next-generation sequencing (NGS) for detecting clonal immunoglobulin (IG) and T-cell receptor (TCR) gene rearrangements is a highly sensitive and specific method for monitoring minimal residual disease (MRD) in patients with acute lymphoblastic leukemia (ALL). Although a standardized testing method for ALL MRD monitoring using NGS IG and TCR gene rearrangement assays has been proposed, no guidelines or recommendations for interpreting and reporting these results have been established thus far. Thus, in the present study, we propose a set of guidelines for interpreting and reporting MRD-associated data using NGS IG and TCR gene rearrangement assays in patients with ALL. These guidelines include the selection and reporting of representative index sequences and interpretation of MRD analysis results based on the limit of detection and lower limit of quantitation.
Keywords
Next-generation sequencing, Immunoglobulin gene, T-cell receptor gene, Acute lymphoblastic leukemia, Minimal residual disease, Interpretation, Reporting, Guidelines