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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

Cho Young-Uk|Kim Miyoung|Chu Daehyun
대한진단검사의학회 (Korean Society For Laboratory Medicine)|2024.10|Laboratory Medicine Online|제14권 제4호|pp. 287-296|DOI 10.47429/lmo.2024.14.4.287

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키워드

GuidelinesInterpretationAcute lymphoblastic leukemiaReportingNext-generation sequencingMinimal residual diseaseImmunoglobulin geneT-cell receptor gene

초록

차세대염기서열분석법을 이용한 IG, TCR 유전자 재배열검사는ALL의 MRD 측정에 매우 예민하고 특이적인 방법이다. 검사실은백혈병 클론을 잘 대표하는 index sequence를 검출, 선정하고, MRD 검체에서 이를 검출, 정량하여 검출한계, 최저정량한계를 고려하여 해석, 보고하여야 한다. 동시에 클론 진화에 의한 새로운클론성 재배열의 출현도 검출, 보고할 수 있어야 한다. 본 권고안은국내 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.

Abstract

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.

참고문헌 (26)

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