Genetic prediction of long-term survival after neoadjuvant chemoradiation in locally advanced esophageal cancer
Genetic prediction of long-term survival after neoadjuvant chemoradiation in locally advanced esophageal cancer
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DOI：
10.1038/tpj.2016.9
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发表时间：
2017-06-01
影响因子：
2.8
通讯作者：
Pasini, F.
中科院分区：
文献类型：
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作者：
Gusella, M.;Giacopuzzi, S.;Pasini, F.
对124例接受新辅助放化疗治疗的局部晚期食管癌患者进行了DNA修复、5-氟尿嘧啶代谢和药物解毒相关候选基因的基因分型，并评估了其对长期无复发生存期（RFS）和癌症特异性生存期（CSS）的预测作用。包括MTHFR 67711、MDR 1 2677 GT、GST P1 114 CC、XPC 499 CC和XPC 939 AC +CC的一组被定义为高风险基因型，区分具有显著不同结果的亚组。当该小组与组织学相结合时，患者分为两个亚组，5年RFS和CSS率分别为65%和27%（风险比（HR）3.0，P < 0.0001）和69%和31%（HR 2.9，P < 0.0001）。将5-SNP组与病理学反应相结合，定义了两个主要的信息风险类别，5年PFS和CSS率分别为79.4% vs 17.7%（HR 6.71，P < 0.0001）和79.3% vs 26.3%（HR 6.25，P < 0.0001）。该分类的敏感性为79%，特异性为85.4%，准确性为81.8%。
Candidate genes involved in DNA repair, 5-fluorouracil metabolism and drug detoxification were genotyped in 124 patients receiving neoadjuvant chemoradiation treatment for locally advanced esophageal cancer and their predictive role for long-term relapse-free survival (RFS) and cancer-specific survival (CSS) were evaluated. A panel including MTHFR 67711, MDR1 2677GT, GSTP1 114CC, XPC 499CC and XPC 939AC+CC, defined as high-risk genotypes, discriminated subgroups with significantly different outcomes. When the panel was combined with histology, patients split into two subsets with 5-year RFS and CSS rates of 65% vs 27% (hazard ratio (HR) 3.0, P < 0.0001) and 69% vs 31% (HR 2.9, P < 0.0001), respectively. Combining the 5-single-nucleotide polymorphism (5-SNP) panel with pathological response defined two major informative risk classes with 5-year PFS and CSS rates of 79.4% vs 17.7% (HR 6.71, P < 0.0001) and 79.3% vs 26.3% (HR 6.25, P < 0.0001), respectively. This classification achieved a sensitivity of 79%, a specificity of 85.4% and an accuracy of 81.8%.