Abstract：
BACKGROUND The relationship between clonal hematopoiesis (CH)-associated gene mutations and allogeneic hematopoietic stem cell transplantation (allo-HSCT) has been extensively studied since next-generation sequencing (NGS) technology became widely available. However, research has mainly focused on the relationship between donor CH mutations and transplant prognosis, and research into the relationship between CH mutations in the recipient and acute graft-versus-host disease (aGVHD) is lacking. MATERIAL AND METHODS We analyzed NGS results and their correlation with aGVHD and prognosis in 196 AML patients undergoing allo-HSCT. RESULTS A total of 93 (47.4%) patients had CH mutations. The most frequently mutated genes were DNMT3A (28 of 196; 14.3%), TET2 (22 of 196; 11.2%), IDH1 (15 of 196; 7.7%), IDH2 (14 of 196; 7.1%), and ASXL1 (13 of 196; 6.6%). The incidence of aGVHD was higher in patients older than 45 years old with DTA mutations (DNMT3A, TET2 or ASXL1). DNMT3A mutation but not with TET2 or ASXL1 mutation was an independent risk factor for aGVHD in patients receiving allo-HSCT older than 45 years old. With a median follow-up of 42.7 months, CH mutations were not associated with overall survival and leukemia-free survival. CONCLUSIONS DNMT3A mutation, but not TET2 or ASXL1 mutation, was associated with higher incidence of aGVHD.
摘要：
背景技术自从下一代测序(NGS)技术变得广泛可用以来,克隆造血(CH)相关基因突变与异基因造血干细胞移植(allo-HSCT)之间的关系已经被广泛研究。然而,研究主要集中在供者CH突变与移植预后的关系,并且缺乏对受体中CH突变与急性移植物抗宿主病（aGVHD）之间关系的研究。材料和方法我们分析了196例接受allo-HSCT的AML患者的NGS结果及其与aGVHD和预后的相关性。结果共有93例（47.4%）患者存在CH突变。最常见的突变基因是DNMT3A（196个中的28个；14.3％），TET2（196人中的22人；11.2%），IDH1（196人中的15人；7.7%），IDH2（196中的14；7.1％），和ASXL1（196个中的13个；6.6%）。在45岁以上有DTA突变的患者中，aGVHD的发生率较高(DNMT3A，TET2或ASXL1)。DNMT3A突变但不具有TET2或ASXL1突变是45岁以上接受allo-HSCT的患者发生aGVHD的独立危险因素。中位随访时间为42.7个月，CH突变与总生存率和无白血病生存率无关。结论DNMT3A突变，但不是TET2或ASXL1突变，与较高的aGVHD发病率相关。
