Abstract：
Wilms tumor 1 (WT1) gene mutations are infrequent in myelodysplastic syndrome (MDS), but MDS with WT1 mutations (WT1mut) is considered high risk for acute myeloid leukemia (AML) transformation. The influence of WT1 mutations in patients with MDS after allogeneic hematopoietic stem cell transplantation (allo-HSCT) is unclear. We performed a retrospective analysis of 136 MDS with excess blasts 2 (MDS-EB2) patients with available WT1 status who underwent their first allo-HSCT between 2017 and 2022 in our center. There were 20 (20/136, 15%) cases in the WT1mut group and 116 (116/136, 85%) cases in the WT1 wild-type (WT1wt) group. WT1mut patients had a higher 2-year cumulative incidence of relapse (CIR) than WT1wt cases (26.2% vs. 9.4%, p = 0.037) after allo-HSCT. Multivariate analysis of relapse showed that WT1 mutations (HR, 6.0; p = 0.002), TP53 mutations (HR, 4.2; p = 0.021), and ≥ 5% blasts in bone marrow (BM) at transplantation (HR, 6.6; p = 0.004) were independent risk factors for relapse. Patients were stratified into three groups according to the risk factors. Two-year CIR differed significantly in high-, intermediate-, and low-risk groups (31.8%, 11.6%, and 0%, respectively). Hence, WT1 mutations may be related to post-transplant relapse in patients with MDS-EB2, which warrants further study.
摘要：
肾母细胞瘤1（WT1）基因突变在骨髓增生异常综合征（MDS）中很少见，但伴WT1突变的MDS(WT1mut)被认为是急性髓系白血病(AML)转化的高风险.WT1突变对异基因造血干细胞移植（allo-HSCT）后MDS患者的影响尚不清楚。我们对具有WT1状态的136例MDS患者（MDS-EB2）进行了回顾性分析，这些患者在2017年至2022年之间在我们中心进行了首次allo-HSCT。WT1mut组20例(20/136,15%),WT1野生型(WT1wt)组116例(116/136,85%)。WT1mut患者的2年累积复发率（CIR）高于WT1wt病例（26.2%vs.9.4%,p=0.037)在allo-HSCT后。复发的多因素分析显示，WT1突变（HR，6.0；p=0.002），TP53突变（HR，4.2；p=0.021)，和移植时骨髓（BM）中≥5%的母细胞（HR，6.6；p=0.004）是复发的独立危险因素。根据危险因素将患者分为三组。两年的CIR在高，中介-，和低风险人群(31.8%，11.6%,0%,分别)。因此，WT1突变可能与MDS-EB2患者的移植后复发有关，值得进一步研究。
