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目的研究有机阴离子转运蛋白(OATP1B1)T521C基因多态对雌激素受体(ER)阳性乳腺癌患者他莫昔芬疗效的影响。方法入选186例ER阳性乳腺癌患者,收集其临床特征、他莫昔芬使用情况和生存状态等相关资料;采集患者外周静脉血3 ml或石蜡组织切片用于DNA提取;焦磷酸测序技术进行OATP1B1 T521C基因分型;查明OATP1B1 T521C等位基因在死亡组和存活组的分布情况,分析年龄、绝经状态、肿瘤大小、淋巴结转移、孕激素受体(PR)和C-erbB2对ER阳性乳腺癌患者预后的影响。结果 OATP1B1 521 TT、TC、CC 3种基因型在死亡组的分布频率为82.5%、17.5%和0,等位基因T和C的频率为91.3%和8.8%。OATP1B1 521 TT、TC、CC 3种基因型在存活组的分布频率为74.7%、21.9%、3.4%,等位基因T和C的频率为85.6%和14.4%。OATP1B1 T521C等位基因频率在死亡组(8.8%)和存活组(14.4%)频率的差异无统计学意义(P=0.19)。死亡组和存活组的年龄、绝经状态、肿瘤大小和PR差异均无统计学意义(P>0.05),死亡组患者淋巴结转移所占比例高于存活组(36/40 vs.77/146,P<0.001),C-erbB2阳性率高于存活组(27/40 vs.45/140,P<0.001)。结论 OATP1B1 T521C变异对接受他莫昔芬治疗的ER阳性乳腺癌患者预后没有显著影响,而淋巴结转移和C-erbB2表达阳性与乳腺癌患者预后显著相关。
Objective To investigate the effect of T521C polymorphism of organic anion transporter (OATP1B1) on the efficacy of tamoxifen in patients with estrogen receptor (ER) positive breast cancer. Methods One hundred and sixty-eight patients with ER-positive breast cancer were enrolled and their clinical characteristics, tamoxifen use status and survival status were collected. 3 ml peripheral venous blood or paraffin tissue sections were collected for DNA extraction. Pyrosequencing was performed on OATP1B1 T521C genotype; to determine the OATP1B1 T521C allele distribution in the death group and survival group analysis of age, menopausal status, tumor size, lymph node metastasis, progesterone receptor (PR) and C-erbB2 on ER-positive breast cancer Impact of patient prognosis. Results The frequencies of OATP1B1 521 TT, TC and CC genotypes in the death group were 82.5%, 17.5% and 0, respectively. The frequencies of alleles T and C were 91.3% and 8.8%, respectively. OATP1B1 521 TT, TC and CC genotypes were 74.7%, 21.9% and 3.4% in the survival group and 85.6% and 14.4% in the T and C alleles, respectively. There was no significant difference in the frequency of OATP1B1 T521C allele between death group (8.8%) and survival group (14.4%) (P = 0.19). There was no significant difference in age, menopause status, tumor size and PR between death group and survival group (P> 0.05), and the proportion of lymph node metastasis in death group was higher than that in survival group (36/40 vs.77 / 146, P <0.001). The positive rate of C-erbB2 was higher than that of survival group (27/40 vs.45 / 140, P <0.001). Conclusion The mutation of OATP1B1 T521C has no significant effect on the prognosis of patients with ER-positive breast cancer treated with tamoxifen, while the positive expression of lymph node metastasis and C-erbB2 is significantly correlated with the prognosis of patients with breast cancer.