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

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.