OCA2基因rs4778137单核苷酸多态性与以表柔比星为基础方案化疗的早期乳腺癌患者预后的相关性

Correlation of OCA2 gene rs4778137 single nucleotide polymorphism with the prognosis of early breast cancer patients receiving epirubicin-based regimen chemotherapy

目的探讨使用表柔比星为基础方案化疗的早期乳腺癌患者OCA2基因rs4778137单核苷酸多态性与预后的关系。方法回顾性分析资阳市第一人民医院2010年4月至2013年1月收治的152例接受表柔比星联合环磷酰胺、多西他赛(EC-T方案)化疗的早期乳腺癌患者资料。检测化疗前外周静脉血OCA2基因rs4778137单核苷酸多态性。随访截至2017年4月, 分析患者复发情况及无病生存(DFS)情况;分析不同雌激素受体(ER)/孕激素受体(PR)表达情况、人表皮生长因子受体2(HER2)表达情况、Ki-67阳性指数患者中rs4778137位点不同基因型患者的DFS情况。结果中位随访时间60个月(28~80个月), 失访2例, 复发26例。有随访结果的150例患者中, rs4778137基因型为CC型68例(45.33%), GC型47例(31.33%), GG型35例(23.33%)。是否复发患者N分期、HER2表达情况、ER/PR表达情况比较, 差异均有统计学意义(χ^(2)值分别为5.79、6.08、6.05, P值分别为0.016、0.014、0.014)。150例乳腺癌患者5年DFS率为82.2%, rs4778137位点不同基因型患者的DFS差异无统计学意义(χ^(2)=2.35, P=0.167);Cox回归分析显示, N分期、ER/PR表达情况均为患者DFS的独立影响因素(均P<0.05)。71例ER/PR阴性患者中, rs4778137位点不同基因型患者的DFS差异有统计学意义(χ^(2)=6.52, P=0.030);79例ER/PR阳性患者、60例HER2阳性患者、90例HER2阴性患者、118例Ki-67阳性指数>14%患者和32例Ki-67阳性指数≤14%患者中, rs4778137位点不同基因型患者的DFS差异均无统计学意义(均P>0.05)。结论 ER/PR阴性早期乳腺癌患者以表柔比星为基础方案化疗后DFS与OCA2基因rs4778137单核苷酸多态性有关, 其中rs4778137位点GG基因型患者的预后更好。

Objective To investigate the correlation of OCA2 gene rs4778137 single nucleotide polymorphism with the prognosis of early breast cancer patients receiving epirubicin-based regimen chemotherapy.Methods The data of 152 patients with early breast cancer who received epirubicin combined with cyclophosphamide and docetaxel(EC-T regimen)chemotherapy in the First People's Hospital of Ziyang from April 2010 to January 2013 were retrospectively analyzed.OCA2 gene rs4778137 single nucleotide polymorphism of peripheral venous blood before chemotherapy was detected.The follow-up was up to April 2017,recurrence and disease-free survival(DFS)were analyzed.DFS of patients with different rs4778137 locus genotype in patients with different estrogen receptor(ER)/progesterone receptor(PR)expressions,human epithelial factor receptor 2(HER2)expressions and Ki-67 positive index were analyzed.Results The median follow-up time was 60 months(28-80 months).There were 2 cases of lost follow-up and 26 cases of recurrence.Among 150 patients with follow-up results,68 cases(45.33%)of rs4778137 genotype were CC genotype,47 cases(31.33%)of GC genotype and 35 cases(23.33%)of GG genotype.There were significant differences in N staging,HER2 expression and ER/PR expression among patients with or without recurrence(χ^(2) value was 5.79,6.08 and 6.05;P value was 0.016,0.014 and 0.014,respectively).The 5-year DFS rate of 150 breast cancer patients was 82.2%,and there was no significant difference in DFS among patients with different rs4778137 locus genotype(χ^(2)=2.35,P=0.167).Cox regression analysis showed that N staging and ER/PR expression were independent influencing factors of DFS in breast cancer patients(all P<0.05).Among 71 ER/PR-negative patients,there was a statistically significant difference in DFS of patients with different rs4778137 locus genotype(χ^(2)=6.52,P=0.030).Among 79 ER/PR-positive patients,60 HER2-positive patients and 90 HER2-negative patients,118 cases with Ki-67 positive index>14%and 32 cases with Ki-67 positive index≤14%,there were no statistically significant differences in DFS of patients with different rs4778137 locus genotype(all P>0.05).Conclusions The DFS of ER/PR-negative patients with early breast cancer who received epirubicin-based regimen chemotherapy is correlated with OCA2 gene rs4778137 single nucleotide polymorphism.Patients with GG genotype at rs4778137 locus have better prognosis.