费城染色体阴性骨髓增殖性肿瘤患者非驱动基因突变分布及临床特征分析  

Distribution and clinical characteristics of non-driver gene mutations in patients with Philadelphia chromosome-negative myeloproliferative neoplasms

作　　者：赵一帆 林绍泽[1] 陈怡佳 许林纯 邢学仰[1] 陶红芳[1] 苏永忠[1] ZHAO Yifan;LIN Shaoze;CHEN Yijia;XU Linchun;XING Xueyang;TAO Hongfang;SU Yongzhong(Department of Hematology,the First Affiliated Hospital of Shantou University Medical College,Shantou 515041,China;Department of Hematology,Mianyang Central Hospital,Mianyang 621000,China)

机构地区：[1]汕头大学医学院第一附属医院血液科,广东汕头515041 [2]绵阳市中心医院血液科,四川绵阳621000

出　　处：《汕头大学医学院学报》2022年第3期129-135,共7页Journal of Shantou University Medical College

基　　金：汕头市医疗卫生科技计划项目(汕府科[2020]5号-95)。

摘　　要：目的:了解骨髓增殖性肿瘤(myeloproliferative neoplasm,MPN)患者非驱动基因突变的分布状态及非驱动基因突变患者临床特征。方法:回顾性分析123例于汕头大学医学院第一附属医院就诊的MPN患者的非驱动基因检测结果及相应临床资料,分析其临床特征与基因型之间的关系。结果:平均每例MPN患者发生(1.63±0.98)项基因突变,86.99%的患者至少检测出一种驱动基因突变(JAK2、CALR和MPL),52.85%的患者可检测到至少一种非驱动基因突变,其中以TET2、ASXL1、TP53为主。非驱动基因发生突变尤其是ASXL1、EZH2、IDH1/2、SRSF2等高危基因突变的患者以女性为主(P=0.031),通常年龄更大(P=0.024),具有更低的血红蛋白水平(P=0.021)、红细胞压积值(P=0.037)、血小板计数(P=0.043),同时伴有更高的乳酸脱氢酶水平(P=0.023)及更严重的骨髓纤维化(P=0.049)。发生TET2基因突变的MPN患者合并脾肿大的概率更高(P=0.018)。结论:超过50%的MPN患者发生至少一项非驱动基因突变,发生非驱动基因突变的MPN患者更容易合并贫血、血小板减少,通常具有更重的肿瘤负荷。Objective: To investigate the distribution of non-driver gene mutations in patients with myeloproliferative neoplasm(MPN) and the clinical characteristics of patients with non-driver gene mutations.Methods: The non-driver gene detection results and corresponding clinical data of 123 MPN patients who were treated in the First Affiliated Hospital of Shantou University Medical College were retrospectively analyzed, and the relationship between their clinical characteristics and genotypes was analyzed. Results: An average of(1.63±0.98) gene mutations occurred in each MPN patient, at least one driver gene mutation(JAK2, CALR and MPL) was detected in 86.99% of the patients, and at least one non-driver gene mutation was detected in 52.85% of the patients. Among them, TET2, ASXL1, and TP53 were the main ones. Patients with mutations in non-driver genes,especially high-risk genes such as ASXL1, EZH2, IDH1/2, and SRSF2, were mainly female(P=0.031), were usually older(P=0.024), and had lower hemoglobin levels(P=0.021), hematocrit value(P=0.037), platelet count(P=0.043), with higher lactate dehydrogenase level(P=0.023) and more severe myelofibrosis(P=0.049). MPN patients with TET2 gene mutation had a higher probability of splenomegaly(P=0.018). Conclusion: More than50% of MPN patients have at least one non-driver gene mutation. MPN patients with non-driver gene mutation are more likely to have anemia, thrombocytopenia, and usually have a heavier tumor burden.

关 键 词：骨髓增殖性肿瘤 非驱动基因突变 高危基因突变 临床特征 

分 类 号：R733.3[医药卫生—肿瘤]