SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS
SF3B1-mutant MDS as a distinct disease subtype: a proposal from the International Working Group for the Prognosis of MDS
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DOI：
10.1182/blood.2020004850
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发表时间：
2020-07-09
期刊：
影响因子：
20.3
通讯作者：
Cazzola, Mario
中科院分区：
文献类型：
--
作者：
Malcovati, Luca;Stevenson, Kristen;Cazzola, Mario
2016年修订的世界卫生组织造血和淋巴组织肿瘤分类的特点是形态学和分子遗传学更紧密地结合在一起。尽管如此，骨髓增生异常综合征（MDS）与孤立del（5 q）仍然是迄今为止唯一的MDS亚型定义的遗传异常。大约一半的MDS患者在剪接体基因中携带体细胞突变，SF 3B 1是最常见的突变。SF 3B 1突变可识别一种以环形铁粒幼细胞（RS）、无效红细胞生成和惰性临床病程为特征的疾病。大量证据支持将SF 3B 1突变型MDS识别为一种独特的疾病分类学实体。为了进一步验证这一概念，我们询问了MDS预后国际工作组（IWG-PM）的数据集。基于我们的分析结果，我们提出了SF 3B 1突变型MDS的以下诊断标准：（1）标准血液学值定义的血细胞减少，（2）体细胞SF 3B 1突变，（3）形态学异常（伴或不伴RS），（4）骨髓原始细胞
The 2016 revision of the World Health Organization classification of tumors of hematopoietic and lymphoid tissues is characterized by a closer integration of morphology and molecular genetics. Notwithstanding, the myelodysplastic syndrome (MDS) with isolated del(5q) remains so far the only MDS subtype defined by a genetic abnormality. Approximately half of MDS patients carry somatic mutations in spliceosome genes, with SF3B1 being the most commonly mutated one. SF3B1 mutation identifies a condition characterized by ring sideroblasts (RS), ineffective erythropoiesis, and indolent clinical course. A large body of evidence supports recognition of SF3B1-mutant MDS as a distinct nosologic entity. To further validate this notion, we interrogated the data set of the International Working Group for the Prognosis of MDS (IWG-PM). Based on the findings of our analyses, we propose the following diagnostic criteria for SF3B1-mutant MDS: (1) cytopenia as defined by standard hematologic values, (2) somatic SF3B1 mutation, (3) morphologic dysplasia (with or without RS), and (4) bone marrow blasts