中文摘要：

目的 探讨在舒尼替尼药效学途径上血小板衍生生长因子受体基因多态性与舒尼替尼治疗后血小板减少之间的相关性.方法 对93例接受舒尼替尼标准剂量治疗的晚期肾透明细胞癌患者,治疗前外周血标本进行PDGFR（rs35597368,rs1800810）基因多态性检测,记录患者治疗后发生的血小板减少分级,评价基因多态性与血小板减少严重性之间的相关性.结果 SNP1580T/C型（rs35597368）检测成功率为95.7％ （89/93）,基因型分布为：TT型71例（79.8％）,TC型17例（19.1％）,CC型1例（1.1％）;SNP1171C/G型（rs1800810）检测成功率为96.8％（90/93）,基因型分布为：CC型66例（73.3％）,CG型24例（26.7％）,rs35597368、rs1800810基因型分布符合Hardy-Weinberg遗传平衡定律.rs35597368位点TT、TC、CC基因型3/4级严重血小板减少发生率分别为29.6％、29.4％及100％,各基因型差异无统计学意义（P =0.313）;rs1800810的CG基因型与CC基因型3/4级血小板减少发生率分别为45.8％和34.2％,两者差异有统计学意义（P =0.048）.结论 晚期肾透明细胞癌人群应用舒尼替尼治疗后,rs1800810的CG基因型患者比CC基因型患者发生3/4级血小板减少的可能性更大,可为预测舒尼替尼导致血小板减少寻找合适的生物标志物提供帮助,从而有助于实现个体化靶向治疗.

英文摘要：

Objective To explore the genetic polymorphisms of PDGFR associated with thrombocytopenia in Chinese patients with metastatic clear-cell renal cell carcinoma （mcc-RCC） treated with sunitinib.Methods A total of 93 mcc-RCC patients treated with sunitinib were enrolled.Genotype analyses were performed before treatment and thrombocytopenia was recorded on the first three cycles of treatment.Genetic polymorphisms of PDGFR （rs35597368,rs1800810） were analyzed for a possible association with thrombocytopenia.Results The genotypes of rs35597368 and rs1800810 conformed to the Hardy-Weinberg law.No significant difference existed in grade 3/4 thrombocytopenia between rs35597368 TC and TT genotypes （29.6% vs 29.4%,P =0.313）.The rs1800810 CG genotype was associated with a higher risk for grade 3/4 thrombocytopenia as compared with CC genotype （45.8% vs 34.2%,P =0.048）.Conclusions The risk for grade 3/4 thrombocytopenia increases in the presence of allele genotype in PDGFR 1171C/G.And a biomarker may be customized for patients with mcc-RCC treated with sunitinib.