慢性髓性白血病衍生9号染色体ASS基因缺失与非缺失患者的临床特征  

Clinical Characteristics of Chronic Myeloid Leukemia Patients with Deletion and Nondeletion of ASS Gene on Derivative Chromosome 9

作　　者：高冠论 周璇[2] 许娜[2] 刘晓力[2] 魏婷 李庆山 GAO Guanlun;ZHOU Xuan;XU Na;LIU Xiaoli;WEI Ting;LI Qingshan(Department of Hematology,Guangzhou Red Cross Hospital(The Affiliated Hospital,Jinan University),Guangzhou 510220,China;Department of Hematology,Nanfang Hospital of Southern Medical University,Guangzhou 510515,China)

机构地区：[1]广州市红十字会医院(暨南大学附属广州红十字会医院)血液科,广州510220 [2]南方医科大学南方医院血液科,广州510515

出　　处：《肿瘤防治研究》2023年第3期283-287,共5页Cancer Research on Prevention and Treatment

基　　金：广东省自然科学基金(2214050003863);广州市卫生健康科技项目(20221A010013);广州市红十字会医院院内课题资助项目(2016-43)。

摘　　要：目的探讨慢性髓性白血病(CML)慢性期衍生9号染色体ASS基因缺失与非缺失患者的临床特征及疗效。方法分析初始治疗方案为伊马替尼并采用BCR/ABL1/ASS13色融合探针检测ASS基因是否缺失的CML患者的临床资料,分为缺失组(n=27)和非缺失组(n=92),分析其临床特征、治疗效果及预后。结果119例患者平均年龄37.22±12.72岁,缺失组和非缺失组患者的sokal评分差异有统计学意义(χ^(2)=4.304,P=0.038),其他一般特征差异无统计学意义(P>0.05)。缺失组的3个月完全细胞遗传学反应(CCyR)率及6个月CCyR率、BCR-ABL^(IS)≤1%率均低于非缺失组(均P<0.05)。随访中位数为35.0(3.0~60.0)个月,缺失组PFS低于非缺失组(χ^(2)=4.293,P=0.038),两组OS比较差异无统计学意义(χ^(2)=0.008,P=0.931)。结论伊马替尼治疗的CML慢性期患者中ASS基因缺失导致治疗疗效不佳及预后不良,且更易出现疾病进展。Objective To investigate the clinical characteristics of patients with chronic myeloid leukemia(CML)in chronic phase with deletion and non-deletion of the argininosuccinate synthesis gene(ASS gene)on the derivative chromosome 9.Methods The clinical data of patients with CML initially treated with imatinib and BCR/ABL1/ASS13-color fusion probe to detect ASS gene deletion were analyzed.The patients were divided into deletion group(n=27)and non-deletion group(n=92).Clinical characteristics,treatment effects,and prognosis were analyzed.Results The average age of 119 patients was 37.22±12.72 years old.The sokal score differed between the deletion and non-deletion groups(χ^(2)=4.304,P=0.038).No statistically significant difference in other general characteristics was found(P>0.05).The 3-month CCyR rate,6-month CCyR rate,and BCR-ABL^(IS)≤1%rate in the deletion group were lower than those in the non-deletion group(P<0.05).The median follow-up of 119 patients was 35.0(3.0-60.0)months.The PFS in the deletion group was lower than that in the non-deletion group(χ^(2)=4.293,P=0.038).Overall survival was not significantly different between the two groups(χ^(2)=0.008,P=0.931).Conclusion The deletion of the ASS gene in patients with chronic CML is related to the poor efficacy of imatinib treatment,poor prognosis,and high risk of disease progression.

关 键 词：白血病 慢性 ASS基因 伊马替尼 预后 

分 类 号：R733.7[医药卫生—肿瘤]