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<p><i>BCOR</i> alteration is a well-established adverse-risk marker for acute myeloid leukemia (AML) in 2022 ELN risk stratification. However, outcomes of <i>BCOR</i>- or <i>BCORL1</i>-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 <i>BCOR</i> or <i>BCORL1</i> mutation (<i>BCOR/BCORL1</i><sup>mut</sup>). We retrospectively evaluated the clinical characteristics and transplant outcomes of <i>BCOR/BCORL1</i><sup>mut</sup> patients and compared them with 276 patients with normal karyotype (<i>BCOR/BCORL1</i><sup>wt</sup>). Frameshift mutation was the predominant alteration of <i>BCOR</i> (<i>n</i> = 22, 39.3%), and the majority of <i>BCORL1</i> was missense mutation (<i>n</i> = 25, 65.8%). The most common co-mutated gene of <i>BCOR/BCORL1</i><sup>mut</sup> was <i>DNMT3A</i> (<i>n</i> = 23, 27.7%). <i>BCOR/BCORL1</i><sup>mut</sup> was also associated with lower WBC counts at diagnosis (<i>P</i> = 0.003), shorter interval from diagnosis to transplantation (<i>P</i> = 0.037), and fewer achieved minimal residual disease negativity pre-transplantation (<i>P</i> &lt; 0.001), compared to <i>BCOR/BCORL1</i><sup>wt</sup>. Three-year OS, DFS and CIR of <i>BCOR/BCORL1</i><sup>wt</sup> and <i>BCOR/BCORL1</i><sup>mut</sup> 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; <i>P</i> = 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; <i>P</i> = 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; <i>P</i> = 0.03), respectively. We also investigated the impact of the type and location of <i>BCOR/BCORL1</i><sup>mut</sup> on transplant outcomes, but no significant effect was observed. Our findings suggest that <i>BCOR/BCORL1</i><sup>mut</sup> is associated with relapse after allo-HSCT, despite no observed difference in OS, and that allo-HSCT could help to overcome the impact of <i>BCOR/BCORL1</i><sup>mut</sup> characteristics on outcomes.</p>

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

  • 期刊论文

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  • 发表日期：

    2025年4月9日

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  • YunXia Zhou,
  • Haixiao Zhang,
  • Xinhui Zheng,
  • Rongli Zhang,
  • Xin Chen,
  • Qiaoling Ma,
  • Donglin Yang,
  • Jialin Wei,
  • Aiming Pang,
  • Yi He,
  • Sizhou Feng,
  • Mingzhe Han,
  • Weihua Zhai,
  • Erlie Jiang

摘要

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.