급성림프모구백혈병의 세계보건기구(World Health Organization) 제 5판 분류 개정안 - 종설 -
World Health Organization fifth edition classification for acute lymphoblastic leukemia - Review article -
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2024년 세계보건기구(World health organization, WHO)는 혈액종양분류 5판을 출간하였다. WHO 분류체제 는 2001년부터 전세계적으로 공통적으로 사용하고 있는 표준진단지침서이며, 과거 형태학적인 분류에서 면 역표현형특성, 최근 분자유전적 특성을 고려한 세분화된 아형으로 분류를 하고 있다. 이번 종설에서는 여러 혈액종양질환 중 급성림프모구백혈병을 중심으로 변화된 부분을 살펴보고자 하였다. WHO 5판에서는 4판 에 있던 아형들은 그대로 유지하면서 새롭게 유전자검사결과에 따라 여러 개의 진단명이 추가되었는데, B 림프모구백혈병(B-lymphoblastic leukemia, B-ALL)에는 B-ALL with BCR::ABL1-like과 ETV6::RUNX1-like 및 DUX4, MEF2D, ZNF384, NUTM1, MYC rearrangement, IG::MYC fusion, PAX5alt, PAX5 p.P80R 이 해당된 다. 그에 반해 T 림프모구백혈병(T-lymphoblastic leukemia)에서는 크게 달라진 점이 없었다. 새로운 분류 들은 진화되는 분자유전기법을 적극 활용한 장점이 있지만, 임상에서는 지역, 경제적인 제약도 있기 때문에 얼마나 활용이 가능할지에 대해서는 논란이 많다. 결과적으로는 임상의와 병리의의 논의를 통해 증상부터 각종 진단검사 결과, 골수조직결과, 영상결과를 고려한 폭넓은 접근이 필요할 것으로 보인다.
Abstract
In 2024, the World Health Organization (WHO) published the fifth edition of its hematolymphoid tumor classification. Since 2001, the WHO classification system has been a globally standardized diagnostic guide, evolving from a morphology-based approach to one that incorporates immunophenotypic characteristics and molecular genetic features for a more refined subtype classification. In this review, it aimed to examine the changes focusing on acute lymphoblastic leukemia among various hematologic malignancies. Although the subtypes from the fourth edition remain, new diagnostic categories have been added to the fifth edition based on genetic testing results. In B-cell lymphoblastic leukemia (B-ALL), new entities include B-ALL with BCR::ABL1-like, ETV6::RUNX1-like, and rearrangements of DUX4, MEF2D, ZNF384, NUTM1, IG::MYC fusion, PAX5alt, and PAX5 p.P80R. Contrastingly, there were no significant changes in T-lymphoblastic leukemia (T-ALL). Although these new classifications benefit from advanced molecular genetic techniques, their clinical utility may be limited by regional and economic constraints, sparking considerable debate. Ultimately, a comprehensive approach that integrates clinical discussions, diagnostic tests, bone marrow results, and imaging findings is needed.
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