核苷酸切除修复（NER）途径中的单核苷酸多态性与骨恶性肿瘤患者的临床结局
Single nucleotide polymorphisms in the NER pathway and clinical outcome of patients with bone malignant tumors.
作者信息
Sun Xiao-Hui, Hou Wen-Gen, Zhao Hong-Xing, Zhao Yi-Lei, Ma Chao, Liu Ying
机构信息
Department of Orthopaedics, the First Affiliated Hospital of Xinxiang Medical University, Weihui, China.
出版信息
Asian Pac J Cancer Prev. 2013;14(3):2049-52. doi: 10.7314/apjcp.2013.14.3.2049.
The effects of polymorphisms in ERCC5, ERCC6, XPC, CCNH and MMS19L on osteosarcoma response to chemotherapy and the survival of the affected patients were assessed. Genotyping of ERCC5, ERCC6, XPC, CCNH and MMS19L was performed by PCR-RFLP assay. The median PFS was 12.8 months, and the median OS was 18.6 months. Individuals carrying homozygous genotypes of ERCC5 rs17655 and ERCC5 rs1047768 were more like to have good response to treatment, while those carrying homozygous genotypes of MMS19L rs29001322 showed poor response. Osteosarcoma patients carrying TT genotype of ERCC5 rs1047768 showed a significantly longer PFS (16.8 months) and OS (21.4 months) than CC genotype, with HRs(95% CI) of 0.31 (0.10-0.93) and 0.32 (0.06-0.97), respectively. Conversely, those with the TT genotype of MMS19L rs29001322 demonstrated shorter PFS and OS, the HRs (95% CI) being 2.23 (1.08-4.15) and 4.62 (1.45-16.08), respectively. Our findings showed polymorphisms in ERCC5 rs1047768 and MMS19L rs29001322 to be associated with clinical outcome of osteosarcoma patients undergoing chemotherapy.
评估了ERCC5、ERCC6、XPC、CCNH和MMS19L基因多态性对骨肉瘤化疗反应及患者生存的影响。采用聚合酶链反应-限制性片段长度多态性分析（PCR-RFLP）对ERCC5、ERCC6、XPC、CCNH和MMS19L进行基因分型。中位无进展生存期（PFS）为12.8个月，中位总生存期（OS）为18.6个月。携带ERCC5 rs17655和ERCC5 rs1047768纯合基因型的个体更可能对治疗有良好反应，而携带MMS19L rs29001322纯合基因型的个体反应较差。携带ERCC5 rs1047768 TT基因型的骨肉瘤患者的PFS（16.8个月）和OS（21.4个月）显著长于CC基因型，风险比（HRs）（95%置信区间）分别为0.31（0.10 - 0.93）和0.32（0.06 - 0.97）。相反，携带MMS19L rs29001322 TT基因型的患者PFS和OS较短，HRs（95%置信区间）分别为2.23（1.08 - 4.15）和4.62（1.45 - 16.08）。我们的研究结果表明，ERCC5 rs1047768和MMS19L rs29001322基因多态性与接受化疗的骨肉瘤患者的临床结局相关。
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