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高冠论, 周璇, 许娜, 刘晓力, 魏婷, 李庆山. 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[J]. 肿瘤防治研究, 2023, 50(3): 283-287. DOI: 10.3971/j.issn.1000-8578.2023.22.0701
引用本文: 高冠论, 周璇, 许娜, 刘晓力, 魏婷, 李庆山. 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[J]. 肿瘤防治研究, 2023, 50(3): 283-287. DOI: 10.3971/j.issn.1000-8578.2023.22.0701
GAO Guanlun, ZHOU Xuan, XU Na, LIU Xiaoli, WEI Ting, LI Qingshan. Clinical Characteristics of Chronic Myeloid Leukemia Patients with Deletion and Non-deletion of ASS Gene on Derivative Chromosome 9[J]. Cancer Research on Prevention and Treatment, 2023, 50(3): 283-287. DOI: 10.3971/j.issn.1000-8578.2023.22.0701
Citation: GAO Guanlun, ZHOU Xuan, XU Na, LIU Xiaoli, WEI Ting, LI Qingshan. Clinical Characteristics of Chronic Myeloid Leukemia Patients with Deletion and Non-deletion of ASS Gene on Derivative Chromosome 9[J]. Cancer Research on Prevention and Treatment, 2023, 50(3): 283-287. DOI: 10.3971/j.issn.1000-8578.2023.22.0701

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 Non-deletion of ASS Gene on Derivative Chromosome 9

  • 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/ASS1 3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(χ2=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-ABLIS≤ 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(χ2=4.293, P=0.038),两组OS比较差异无统计学意义(χ2=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。

     

    Abstract:
    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/ASS1 3-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 (χ2=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-ABLIS≤ 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 (χ2=4.293, P=0.038). Overall survival was not significantly different between the two groups (χ2=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.

     

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