WT1 基因突变影响原始细胞过多的骨髓增生异常综合征 2 例患者的移植后复发。
WT1 gene mutations impact post-transplant relapse in myelodysplastic syndrome with excess blasts 2 patients.
发表日期：2024 Jul 06
作者：
Wenwen Guo, Haixiao Zhang, Mingyang Wang, Yawei Zheng, Yigeng Cao, Xiaoyu Zhang, Weihua Zhai, Rongli Zhang, Donglin Yang, Jialin Wei, Yi He, Qiaoling Ma, Yonghui Xia, Aiming Pang, Sizhou Feng, Mingzhe Han, Erlie Jiang
来源：
Experimental Hematology & Oncology
摘要：
肾母细胞瘤 1 (WT1) 基因突变在骨髓增生异常综合征 (MDS) 中并不常见，但具有 WT1 突变 (WT1mut) 的 MDS 被认为具有急性髓系白血病 (AML) 转化的高风险。 WT1突变对MDS患者异基因造血干细胞移植（allo-HSCT）后的影响尚不清楚。我们对 136 名具有 WT1 状态的 MDS 伴原始细胞增多 2 (MDS-EB2) 患者进行了回顾性分析，这些患者于 2017 年至 2022 年间在我们中心接受了首次异基因造血干细胞移植。 WT1mut 组有 20 例（20/136，15%）例，WT1 野生型（WT1wt）组有 116 例（116/136，85%）例。 WT1mut 患者在 allo-HSCT 后的 2 年累积复发率 (CIR) 高于 WT1wt 患者（26.2% vs. 9.4%，p = 0.037）。复发的多变量分析显示，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% 原始细胞（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。高风险组、中风险组和低风险组的两年 CIR 存在显着差异（分别为 31.8%、11.6% 和 0%）。因此，WT1 突变可能与 MDS-EB2 患者移植后复发有关，这值得进一步研究。© 2024。作者获得 Springer-Verlag GmbH 德国（Springer Nature 旗下公司）的独家许可。
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.© 2024. The Author(s), under exclusive licence to Springer-Verlag GmbH Germany, part of Springer Nature.