Cen Yan-Xia, Li Yan
Xinjiang Clinical College of Anhui Medical University, Urumqi 830001，Xinjiang Uygur Autonomous Region, China.
Xinjiang Clinical College of Anhui Medical University, Urumqi 830001，Xinjiang Uygur Autonomous Region, China，Department of Hematology, People's Hospital of Xinjiang Uygur Autonomous Region, Urumqi 830001，Xinjiang Uygur Autonomous Region, China,E-mail:
Zhongguo Shi Yan Xue Ye Xue Za Zhi. 2020 Dec;28(6):2004-2010. doi: 10.19746/j.cnki.issn.1009-2137.2020.06.034.
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)×10/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.
探讨伴有BCOR/BCORL1突变的骨髓增生异常综合征（MDS）患者的临床特征及预后意义。
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为初发MDS的135例患者的临床特征。采用二代测序技术检测MDS患者34种髓系肿瘤相关基因。分析BCOR/BCORL1突变的临床特征及其对MDS患者无进展生存期（PFS）和总生存期（OS）的影响。
在MDS患者中，34例（25.2%）检测到BCOR/BCORL1突变，其中BCOR突变16例（11.9%），BCORL1突变18例（13.3%）。BCOR/BCORL1突变患者在女性中更常见，与无BCOR/BCORL1突变的患者相比，中性粒细胞计数更低［0.75(0.08 - 22.20) vs 1.27(0.06 - 35.71)×10/L，P = 0.047］。不同国际预后评分系统修订版（IPSS-R）亚组、IPSS-R低危组和IPSS-R高危组、不同基因分组以及是否转化为白血病组中BCOR/BCORL1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突变与DNA甲基转移酶3A（DNMT3A）、神经纤维瘤病1型（NF1）、粘连蛋白复合物亚基2（STAG2）、剪接因子U2AF1和增强子结合蛋白EZH2突变相关（P = 0.003，P = 0.007，P = 0.000，P = 0.004，P = 0.024）。虽然BCOR/BCORL1突变患者的中位PFS与无BCOR/BCORL1突变的MDS患者相比差异无统计学意义（P = 0.210）, 但中位OS显著缩短［16(3 - 32)个月 vs 22(0.2 - 48)个月，P = 0.039］。
BCOR/BCORL1突变在MDS患者中较为常见，且常伴有其他基因共突变。BCOR/BCORL1突变与MDS患者疾病进展及急性髓系白血病转化无关，但提示总生存期较差。
