Usefulness of BCOR gene mutation as a prognostic factor in acute myeloid leukemia with intermediate cytogenetic prognosis
Usefulness of BCOR gene mutation as a prognostic factor in acute myeloid leukemia with intermediate cytogenetic prognosis
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DOI：
10.1002/gcc.22542
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发表时间：
2018-08-01
影响因子：
3.7
通讯作者：
Inokuchi, Koiti
中科院分区：
文献类型：
--
作者：
Terada, Kazuki;Yamaguchi, Hiroki;Inokuchi, Koiti
BCOR基因是一种转录调控因子，在正常的造血过程中起着重要作用。近年来，随着新一代测序技术的广泛应用，急性髓系白血病(AML)的BCOR基因突变已有报道，但相关的临床特征和预后尚不清楚。我们对377例BCOR或BCORL1突变的初发AML患者的临床特征和预后进行了研究。BCOR或BCORL1基因突变28例(7.4%)。在65岁及以下且Flt3-ITD阴性的中度细胞遗传学预后组中，BCOR或BCORL1基因突变的发生率为11%(12/111)，与无BCOR或BCORL1基因突变的患者相比，该组患者的5年总生存率(OS)(13.6%比55.0%，P=0.0021)和无复发生存率(RFS)(14.3%比44.5%，P=0.0168)显著降低。多因素分析显示，bcor基因突变是OS和RFs的独立不良预后因素(P=0.0038，P=0.0463)。在Flt3-ITD阴性、年龄在65岁或以下的AML以及预后较好的细胞遗传学中间组中，BCOR基因突变是一个重要的预后因素。
BCOR gene is a transcription regulatory factor that plays an essential role in normal hematopoiesis. The wider introduction of next-generation sequencing technology has led to reports in recent years of mutations in the BCOR gene in acute myeloid leukemia (AML), but the related clinical characteristics and prognosis are not sufficiently understood. We investigated the clinical characteristics and prognosis of 377 de novo AML cases with BCOR or BCORL1 mutation. BCOR or BCORL1 gene mutations were found in 28 cases (7.4%). Among cases aged 65 years or below that were also FLT3-ITD-negative and in the intermediate cytogenetic prognosis group, BCOR or BCORL1 gene mutations were observed in 11% of cases (12 of 111 cases), and this group had significantly lower 5-year overall survival (OS) (13.6% vs. 55.0%, P=0.0021) and relapse-free survival (RFS) (14.3% vs. 44.5%, P=0.0168) compared to cases without BCOR or BCORL1 gene mutations. Multivariate analysis demonstrated that BCOR mutations were an independent unfavorable prognostic factor (P=0.0038, P=0.0463) for both OS and RFS. In cases of AML that are FLT3-ITD-negative, aged 65 years or below, and in the intermediate cytogenetic prognosis group, which are considered to have relatively favorable prognosis, BCOR gene mutations appear to be an important prognostic factor.