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Impact of BCOR/BCORL1 mutation on outcomes of allogeneic hematopoietic stem cell transplantation in acute myeloid leukemia patients

Yunxia Zhou,Haixiao Zhang,Xinhui Zheng,Rongli Zhang,Xin Chen,Q. Ma,Donglin Yang,Jialin Wei,A. Pang,Yi He,S. Feng,M. Han,W. Zhai,E. Jiang

Published 2025 in Annals of Hematology

ABSTRACT

BCOR alteration is a well-established adverse-risk marker for acute myeloid leukemia (AML) in 2022 ELN risk stratification. However, outcomes of BCOR- or BCORL1-mutated AML after allogeneic hematopoietic stem cell transplantation (allo-HSCT) are as yet poorly defined. In an 877-patient consecutive AML transplantation cohort, we found 83 (9.5%) patients with BCOR or BCORL1 mutation (BCOR/BCORL1mut). We retrospectively evaluated the clinical characteristics and transplant outcomes of BCOR/BCORL1mut patients and compared them with 276 patients with normal karyotype (BCOR/BCORL1wt). Frameshift mutation was the predominant alteration of BCOR (n = 22, 39.3%), and the majority of BCORL1 was missense mutation (n = 25, 65.8%). The most common co-mutated gene of BCOR/BCORL1mut was DNMT3A (n = 23, 27.7%). BCOR/BCORL1mut was also associated with lower WBC counts at diagnosis (P = 0.003), shorter interval from diagnosis to transplantation (P = 0.037), and fewer achieved minimal residual disease negativity pre-transplantation (P < 0.001), compared to BCOR/BCORL1wt. Three-year OS, DFS and CIR of BCOR/BCORL1wt and BCOR/BCORL1mut groups were 75.2% (95% CI, 70.0-80.8%) vs. 76.0% (95% CI, 66.0-87.5%) (HR, 0.92; 95% CI, 0.54–1.57; P = 0.77), 74.5% (95% CI, 69.4-80.1%) vs. 67.7% (95%CI, 57.0-80.4%) (HR, 1.20; 95% CI, 0.75–1.91; P = 0.46), and 12.6% (95% CI, 8.9-17.0%) vs. 24.0% (95% CI, 14.1-35.4%) (HR, 1.85; 95% CI, 1.04–3.3; P = 0.03), respectively. We also investigated the impact of the type and location of BCOR/BCORL1mut on transplant outcomes, but no significant effect was observed. Our findings suggest that BCOR/BCORL1mut is associated with relapse after allo-HSCT, despite no observed difference in OS, and that allo-HSCT could help to overcome the impact of BCOR/BCORL1mut characteristics on outcomes.

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