Clinical interpretation of the 2022 revision 5th edition of the World Health Organization classification of myeloid neoplasms and acute leukemia
-
摘要: 世界卫生组织发布的《第5版血液淋巴肿瘤分类》是基于近年来大量相关临床及基础研究结果更新版本,也是目前最为权威的分类标准。其规范了疾病的诊断,同时在亚型分类的过程中强调了治疗及预后相关的生物学标志。文章主要聚焦于最新版分类中急性髓系白血病相关内容,讨论了较上一版本相比的更新内容,并提出相关思考。Abstract: The 5th editionof the World Health Organization Classification of haematolymphoid tumours is the most authoritative classification at present, which is an update version based on massive clinical and basic researches. The diagnosis is standardized, also the therapeutic and prognostic biomarkers are emphisezed during subtype classification. Here, it focus on the acute myeloid leukemia related part, discussing the changes in this updated review in comparison to the previous version and giving some views.
-
Key words:
- acute myelocytic leukemia /
- classification
-
表 1 2016及2022 WHO关于AML分类对比
2016 WHO AML分型 2022 WHO AML分型 AML AML AML伴重现AML伴重现性遗传异常 AML伴重现AML伴重现性遗传异常 AML伴t(8;21)(q22;q22.1);RUNX1-RUNX1T1 APL伴PML∷RARA AML伴inv(16)(p13.1q22)或t(16;16)(p13.1;q22);CBFB-MYH11 AML伴RUNX1∷RUNX1T1 APL伴PML-RARA AML伴CBFB∷MYH11 AML伴t(9;11)(p21.3;q23.3);MLLT3-KMT2A AML伴DEK∷NUP214 AML伴t(6;9)(p23;q34.1);DEK-NUP214 AML伴RBM15∷MKL1 AML伴inv(3)(q21.3q26.2)或t(3;3)(q21.3;q26.2);GATA2,MECOM AML伴BCR∷ABL1 AML(原始巨核细胞性)伴t(1;22)(p13.3;q13.3);RBM15-MKL1 AML伴KMT2A重排 AML伴BCR-ABL1(暂定名) AML伴NUP98重排 AML伴NPM1突变 AML伴NPM1突变 AML伴CEBPA双等位基因突变 AML伴CEBPA突变 AML伴RUNX1突变(暂命名) MDS相关AML AML伴骨髓增生异常相关改变 AML伴其他特定的遗传学改变 治疗相关的髓系肿瘤 分化定义的AML 非特殊类型AML(AML,NOS) AML微分化型 AML微分化型 AML未分化型 AML未分化型 AML部分未分化型 AML部分未分化型 急性粒-单核细胞白血病 急性粒-单核细胞白血病 急性单核细胞白血病 急性单核细胞白血病 纯红白血病 红白血病 急性巨核细胞白血病 急性巨核细胞白血病 急性嗜碱性粒细胞性白血病 急性嗜碱性粒细胞性白血病 髓系肉瘤 急性全髓白血病伴骨髓纤维化 继发的髓系肿瘤 髓系肉瘤 细胞毒性治疗后的髓系肿瘤 唐氏综合征相关性骨髓增生 胚系相关的髓系肿瘤 一过性骨髓增生异常 唐氏综合征相关的髓系白血病 表 2 AML-MR相关的细胞遗传学及分子遗传学异常
特定细胞遗传学异常 特定分子遗传学异常 复杂染色体 ASXL1 5q缺失或由于不平衡易位导致5q缺失 BCOR 单体7、7q缺失或由于不平衡易位导致7q缺失 EZH2 11q缺失 SF3B1 12p缺失或由于不平衡易位导致12p缺失 SRSF2 单体13或13q缺失 STAG2 17p或由于不平衡易位导致17p缺失 U2AF1 等臂染色体17q ZRSR2 等臂双着丝粒染色体Xq13 -
[1] Khoury JD, Solary E, Abla O, et al. The 5th edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic/Dendritic Neoplasms[J]. Leukemia 2022, 36(7): 1703-1719. doi: 10.1038/s41375-022-01613-1
[2] Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neoplasms and acute leukemia[J]. Blood, 2016, 127(20): 2391-2405. doi: 10.1182/blood-2016-03-643544
[3] Bruford EA, Antonescu CR, Carroll AJ, et al. HUGO Gene Nomenclature Committee(HGNC)recommendations for the designation of gene fusions[J]. Leukemia, 2021, 35(11): 3040-3043. doi: 10.1038/s41375-021-01436-6
[4] Ostronoff F, Othus M, Gerbing RB, et al. NUP98/NSD1 and FLT3/ITD coexpression is more prevalent in younger AML patients and leads to induction failure: a COG and SWOG report[J]. Blood, 2014, 124(15): 2400-2407. doi: 10.1182/blood-2014-04-570929