Abstract
目的探讨我国GATA2突变相关儿童原发性骨髓增生异常综合征(MDS)的发生情况、临床特点及分子生物学特征。方法回顾性分析2007年1月至2018年1月129例儿童原发性MDS患者临床资料,采用二代测序技术检测GATA2及髓系恶性肿瘤相关基因突变情况。分析基因突变谱及其与临床表现型的关系。结果在所有129例患者中,11例(8.5%)检出GATA2胚系突变。在50例MDS伴原始细胞增高(MDS-EB)和急性髓系白血病伴MDS相关改变(AML-MRC)患者中,GATA2胚系突变占14.0%。GATA2突变多位于第二个锌指(ZF2)区。多因素分析结果显示,SETBP1体细胞突变(P=0.041,OR=9.003,95%CI 1.098~73.787)和独立的7号染色体单体(P=0.002,OR=24.835,95%CI 3.305~186.620)与GATA2胚系突变显著相关。与GATA2野生型的患者相比,GATA2突变型患者中位发病年龄更大[8(1~16)岁对6岁(1月龄~18岁),P=0.035],更易伴有7号染色体单体(72.7%对5.2%,P<0.001),较之儿童难治性血细胞减少(RCC)更倾向于存在于MDS-EB/AML-MRC亚型中(5.1%对13.7%,P=0.111)。GATA2突变与否不影响儿童原发性MDS患者的3年预期总生存(OS)率[(80.1±4.2)%对(60.6±25.4)%,P=0.437];在44例接受allo-HSCT患者中,GATA2突变与否对移植后3年预期OS率无显著影响[100.0%对(94.0±3.8)%,P=0.562]。结论GATA2突变在我国伴有7号染色体单体及年龄较大的儿童原发性MDS患者中占有较高的比例,且GATA2突变患者多进展为MDS-EB和AML-MRC。GATA2突变状态不影响儿童原发性MDS的总体生存。
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