[Clinical Characteristics and Prognostic Significance of BCOR/BCORL1 Gene Mutation in Patients with Myelodysplastic Syndromes].

To investigate the clinical characteristics and prognostic significance of myelodysplastic syndrome (MDS) patients with BCOR/BCORL1 mutation.The clinical characteristics of 135 patients diagnosed as de novo MDS in People's Hospital of Xinjiang Uygur Autonomous Region from September 2015 to September 2019 were analyzed retrospectively. Next-generation sequencing was used to detect 34 kinds of myeloid-tumor-related gene in MDS patients. The clinical characteristics of BCOR/BCORL1 mutation and its effect to progression-free survival(PSF) and overall survival (OS) in MDS patients were analyzed.Among MDS patients, BCOR/BCORL1 mutation was found in 34(25.2%) patients, including 16(11.9%) BCOR mutation and 18(13.3%) BCORL1 mutation. Patients with BCOR/BCORL1 mutation were more common in women and showed lower neutrophil count ［0.75(0.08-22.20) vs 1.27(0.06-35.71)×109/L, P=0.047］ as compared with those without BCOR/BCORL1 mutation. There were no significant difference in the rate of BCOR/BCORL1 mutation in different IPSS-R subgroups, the IPSS-R lower risk group and the IPSS-R higher risk group, different genetic groups, and conversion or non-conversion to leukemia group(P=0.725, P=0.713, P=0.273, P=0.165). BCOR/BCORL1 mutation was associated with DNMT3A, NF1, STAG2, U2AF1, and EZH2 mutation (P=0.003, P=0.007, P=0.000, P=0.004, P=0.024). While the median PFS of patients with BCOR/BCORL1 mutation showed no significantly different as compared with MDS patients without BCOR/BCORL1 mutation (P=0.210), but the median OS was significantly shorter ［16(3-32) vs 22(0.2-48) months, P=0.039］.BCOR/BCORL1 mutation is more common in MDS patients and often company with other genes co-mutations. BCOR/BCORL1 mutation is not associated with disease progression and AML transformation in MDS patients, but it predicts poor overall survival.伴BCOR/BCORL1基因突变骨髓增生异常综合征患者的临床特征及预后意义.探讨伴BCOR/BCORL1基因突变骨髓增生异常综合征(MDS)患者的临床特征及BCOR/BCORL1基因突变对MDS患者的预后意义.回顾性分析2015年9月至2019年9月在新疆维吾尔自治区人民医院确诊的135例初治MDS患者的临床资料，采用二代测序对34种髓系肿瘤相关基因进行检测，分析BCOR/BCORL1基因突变MDS患者的临床特征及BCOR/BCORL1基因突变对MDS患者无进展生存（PFS）时间和总生存（OS）时间的影响.MDS患者中检出BCOR/BCORL1基因突变34例（25.2%），其中BCOR突变16例（11.9%），BCORL1突变18例（13.3%）。与未突变组相比，BCOR/BCORL1突变更多见于女性，且中性粒细胞计数偏低［0.75(0.08-22.20) vs 1.27(0.06-35.71)×109/L，P=0.047］。不同IPSS-R分组各亚组之间及较低危组和较高危组之间、不同遗传学分组之间以及转白组与未转白组MDS患者之间BCOR/BCORL1基因的突变率差异均无统计学意义（P=0.725，P=0.713，P=0.273，P=0.165）。BCOR/BCORL1基因突变与DNMT3A、NF1、STAG2、U2AF1、EZH2基因突变相关(P=0.003，P=0.007，P=0.000，P=0.004，P=0.024)。而与无BCOR/BCORL1突变MDS患者相比，BCOR/BCORL1突变患者的中位PFS时间无显著差异(P=0.210)，但中位OS时间显著较短［16(3-32) vs 22(0.2-48)个月，P=0.039］.BCOR/BCORL1突变在MDS患者中较多见，且常伴有其他基因共突变。BCOR/BCORL1基因突变与MDS患者疾病进展及转急性髓系白血病（AML）无关，但是预示着较差的总生存.