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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。
Objective To investigate the relationship between the C118T single nucleotide polymorphism of ERCC1 gene and the short-term prognosis of rhabdomyosarcoma of the head and neck in children. Methods Totally 41 children with advanced rhabdomyosarcoma of the head and neck treated with platinum as the primary drug were enrolled in the study. The correlation between C118T SNP and gene copy number and short-term prognosis was analyzed. Results The C118T mutation type of ERCC1 gene was C / C 29.3% (12/41), C / T 36.6% (15/41) and T / T 34.1% (14/41). The gene copy number of C / C gene was 1.151 8 ± 0.265 0, C / T 0.694 8 ± 0.184 0, T / T 0.679 2 ± 0.178 0, and the difference of gene copy number between C / C group and C / T + T / T group was Statistical significance (P = 0.000), and short-term prognosis between the two groups was also statistically significant (P = 0.034). Conclusions The C118T single nucleotide polymorphisms of ERCC1 gene in the patients with advanced rhabdomyosarcoma of head and neck are mainly C / T + T / T type. Compared with C / C type, C / T + T / T type ERCC1 gene expression Lower levels, children with platinum-based chemotherapeutic drugs are more sensitive, better efficacy, high response rate, the recent survival of better.