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. 2024 Aug;103(8):2827-2836.
doi: 10.1007/s00277-024-05870-1. Epub 2024 Jul 6.

WT1 gene mutations impact post-transplant relapse in myelodysplastic syndrome with excess blasts 2 patients

Wenwen Guo  1   2 , Haixiao Zhang  1   2 , Mingyang Wang  1   2 , Yawei Zheng  1   2 , Yigeng Cao  1   2 , Xiaoyu Zhang  1   2 , Weihua Zhai  1   2 , Rongli Zhang  1   2 , Donglin Yang  1   2 , Jialin Wei  1   2 , Yi He  1   2 , Qiaoling Ma  1   2 , Yonghui Xia  1   2 , Aiming Pang  1   2 , Sizhou Feng  1   2 , Mingzhe Han  1   2 , Erlie Jiang  3   4
Affiliations

WT1 gene mutations impact post-transplant relapse in myelodysplastic syndrome with excess blasts 2 patients

Wenwen Guo et al. Ann Hematol. 2024 Aug.

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.

Keywords: Allogeneic hematopoietic stem cell transplantation; Mutations; Myelodysplastic syndrome; WT1.

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