ERCC1基因C118T单核苷酸多态性与儿童晚期头颈部横纹肌肉瘤短期预后的相关性

目的 探讨ERCC1基因C118T单核苷酸多态性与儿童晚期头颈部横纹肌肉瘤短期预后的相关性.方法 对41例接受以铂类为主要药物化疗的晚期头颈部横纹肌肉瘤的患儿进行ERCC1基因检测,分析其C118T单核苷酸多态性及基因拷贝数与患儿短期预后的相关性.结果 ERCC1基因C118T突变类型为C/C占29.3％(12/41),C/T 36.6％(15/41),T/T 34.1％(14/41).C/C基因拷贝数为1.151 8±0.265 0,C/T 0.694 8±0.184 0,T/T 0.679 2±0.178 0,C/C组与C/T+T/T组基因拷贝数的差异有统计学意义(P=0.000),且两组间短期预后差异亦有统计学意义(P=0.034).结论 晚期头颈部横纹肌肉瘤患儿ERCC1基因C118T单核苷酸多态性以C/T+T/T型为主,与C/C型相比,C/T+T/T型ERCC1基因表达水平更低,患儿对铂类化疗药物更加敏感,疗效更好,缓解率高,近期生存情况更佳.

Correlation between ERCC1 gene C118T single nucleotide polymorphisms and the short-term prognosis in children with advanced head and neck rhabdomyosarcoma

Objective To study the correlation between ERCC1 gene C118T single nucleotide polymorphisms and the short-term prognosis in children with advanced head and neck rhabdomyosarcoma.Methods Forty-one children with advanced head and neck rhabdomyosarcoma treated with chemotherapy based on platinum drugs were enrolled into this study.The ERCC1 gene Cll8T single nucleotide polymorphisms genotypes and ERCC1 gene copy number were achieved.Analysis was performed to determine the correlation between ERCC1 gene C118T single nucleotide polymorphisms and the short-term prognosis.Results The genotype frequencies of ERCC1 gene C118T single nucleotide polymorphisms were C/C 29.3％(12/41),C/T 36.6％(15/41),and T/T 34.1％(14/41).The ERCC1 gene copy number was C/C 1.151 8±0.265 0,C/T 0.694 8±0.184 0,T/T 0.679 2±0.178 0.There was statistical difference of gene copy number between C/C group and C/T+T/T group(P =0.000),and a short-term prognosis difference was also significant between the two groups (P =0.034).Conclusion C/T and T/T types are the main genotypes in ERCC 1 gene C 118T single nucleotide polymorphisms,and when compared with C/C type,patients with C/T and T/T types are more sensitive to platinum-based chemotherapy,with lower expression level of ERCC 1 gene,higher remission rate,and better short-term survival.