摘要
目的: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。方法: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。结果: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)×10^9/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]。结论: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。
Objective:To investigate the clinical characteristics and prognostic significance of myelodysplastic syndrome(MDS)patients with BCOR/BCORL1 mutation.Methods: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 myeloidtumor-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.Results: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)×10^9/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].Conclusion: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.
作者
岑燕霞
李燕
CEN Yan-Xia;LI Yan(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)
出处
《中国实验血液学杂志》
CAS
CSCD
北大核心
2020年第6期2004-2010,共7页
Journal of Experimental Hematology
