【摘要】 【目的】观察结直肠癌患者亚甲基四氢叶酸还原酶(MTHFR)基因C677T和A1298C多态性与化疗后无进展生存期的相关性。【方法】收集经病理学确诊的Ⅳ期结直肠腺癌患者共81例,接受标准的FOLFOX6方案或XELOX方案化疗,化疗前抽取患者外周血,采用DNA测序的方法检测MTHFR基因C677T和A1298C多态性,比较不同基因型化疗后的无进展生存时间,并分析各种因素和预后的相关性。【结果】81例结直肠癌患者中,MTHFR677 CC、CT、TT基因型分别为:54.3%、41.9%、3.7%;CC型和CT/TT型中位PFS分别为11.4月和13.8月,P=0.046。MTHFR1298 AA、AC、CC基因型分别为:62.9%、34.5%、2.5%,AA型和AC/CC型化疗中位无进展生存分别为13.2月和11.7月,差异无统计学意义,P=0.127。其他因素如性别、年龄、肿瘤部位等同PFS无相关性。【结论】CT/TT基因型患者PFS优于CC型。MTHFR C677T基因多态性可作为预测结直肠癌患者化疗预后的指标。更多还原

【Abstract】 【Objective】 To investigate the relationship between polymorphisms of the methylenetetrahydrofolate reductase(MTHFR) 677, 1298 and the PFS(progression free survival,PFS) of advanced colorectal cancer treated by chemotherapy.【Methods】 81 stage IV colorectal carcinoma patients confirmed by pathology were treated with FOLFOX6 or XELOX regimen and DNA of peripheral blood was obtained before therapy. MTHFR genotypes were detected by PCR and sequencing method. The PFS of patients with different genotypes were compared, and effects of various factors on prognosis were evaluated. 【Result】 Of the 81 patients, the frequencies of MTHFR 677 CC, CT, TT genotype were 54.3%, 41.9%, and 3.7%, respectively. The mean PFS of CC and CT / TT genotype were 11.4 months and 13.8 months respectively, with significance(P = 0.046). The frequencies of MTHFR1298 AA, AC, CC genotype were 62.9%, 34.5%, and 2.5%, respectively. The mean PFS of AA and AC / CC genotype were 13.2months and 11.7 months respectively, with no statistic significance(P = 0.127). The other factor(gender, age, tumor site, etc) were not associated with PFS. 【Conclusion】 The present study indicates that the mean PFS of MTHFR 677 CT / TT genotype was superior to CC genotype. Polymorphisms of MTHFR 677 may be an important factor to predict the prognosis of colorectal cancer treated chemotherapy.更多还原