The clinical implications of BCOR mutations in a large cohort of acute myeloid leukemia patients: a 5-year single-center retrospective study.

IF 2.2 4区 医学 Q3 HEMATOLOGY Leukemia & Lymphoma Pub Date : 2024-12-01 Epub Date: 2024-08-10 DOI:10.1080/10428194.2024.2387730
Deyuan Hu, Kai Shen, YuSha Guo, Xie Bing Bao, Ningzheng Dong, Suning Chen
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Abstract

To elucidate the effect of BCOR mutation (BCORmut) on clinical outcomes, we included a total of 899 consecutive AML patients in a single-center during July 2016 to December 2021. Fifty cases (5.6%) had BCOR mutations, which co-occurred with mutations of RUNX1, DNMT3A, IDH2, BCORL1, STAG2, SF3B1 and U2AF1, but were exclusive with KIT and CEBPA mutations. BCORmut was also found to be exclusive with t(8;21)(q22;q22.1) AML in all patients and MLL rearrangements in the European Leukemia Net (ELN) adverse group. In those receiving intensive chemotherapy regimens, BCORmut was associated with lower complete remission (CR) rates and worse prognosis. Subgroup analysis showed that BCORmut mainly conferred a poor prognosis in the intermediate and adverse groups of the ELN2017 risk. These results suggest that BCOR mutation is an independent prognostic parameter in AML, implying BCOR mutation as a novel marker for chemorefractory disease and inferior prognosis.

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在一大批急性髓性白血病患者中发现的 BCOR 突变的临床意义:一项为期 5 年的单中心回顾性研究。
为了阐明BCOR突变(BCORmut)对临床预后的影响,我们在2016年7月至2021年12月期间纳入了一个单一中心的899例连续AML患者。50例(5.6%)患者出现了BCOR突变,这些突变与RUNX1、DNMT3A、IDH2、BCORL1、STAG2、SF3B1和U2AF1的突变共存,但与KIT和CEBPA突变排斥。研究还发现,在所有患者中,BCORmut与t(8;21)(q22;q22.1) AML和欧洲白血病网(ELN)不良组中的MLL重排是排他性的。在接受强化化疗方案的患者中,BCORmut与较低的完全缓解(CR)率和较差的预后有关。亚组分析显示,BCORmut主要导致ELN2017风险中间组和不良组的预后较差。这些结果表明,BCOR突变是急性髓细胞性白血病的一个独立预后参数,意味着BCOR突变是化疗难治性疾病和不良预后的一个新标记。
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来源期刊
Leukemia & Lymphoma
Leukemia & Lymphoma 医学-血液学
CiteScore
4.10
自引率
3.80%
发文量
384
审稿时长
1.8 months
期刊介绍: Leukemia & Lymphoma in its fourth decade continues to provide an international forum for publication of high quality clinical, translational, and basic science research, and original observations relating to all aspects of hematological malignancies. The scope ranges from clinical and clinico-pathological investigations to fundamental research in disease biology, mechanisms of action of novel agents, development of combination chemotherapy, pharmacology and pharmacogenomics as well as ethics and epidemiology. Submissions of unique clinical observations or confirmatory studies are considered and published as Letters to the Editor
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