【摘要】 目的目前血吸虫病与结直肠癌的关系一直存在争议。本研究拟探讨合并血吸虫病的结直肠癌患者肿瘤相关基因突变的表达及意义。方法选取岳阳市第一人民医院2012-12-01-2014-10-01病理存档标本,其中合并血吸虫感染的结直肠癌患者26例,未合并血吸虫感染的结直肠癌患者42例。使用life-PGM平台对商品化的Oncomine组合基因(22个热点基因)进行靶向二代测序。结果 26例合并血吸虫的结直肠癌共有79个突变位点,42例单纯结直肠癌有96个突变位点。其中多数为体细胞单核苷酸变异(single nucleotide variants,SNVs)(168/175,96%)。单核苷酸变异比例在合并血吸虫结直肠癌组和单纯结直肠癌组之间,差异无统计学意义,P>0.05。26例合并血吸虫结直肠癌组中,25例检出基因突变,突变基因个数1~7个(平均3.03个);42例单纯结直肠癌组中,38例检出基因突变,突变基因个数1~6个(平均2.28个)。合并血吸虫结直肠癌的突变频率96.2%(25/26),与单纯性结直肠癌的突变频率90.5%(28/42)比较,差异无统计学意义,P=0.475。最常见的为TP53基因突变,两组的突变频率分别为65.38%(17/26)和57.14%(24/42)。结论合并血吸虫病的结直肠癌患者与未合并血吸虫病的结直肠癌患者肿瘤相关基因突变无明显差异,因此血吸虫病与结直肠癌之间的关系还需进一步探讨。更多还原

【Abstract】 OBJECTIVE The relationship between schistosomiasis and colorectal cancer has been controversial.This study atmed to investigate the expression and significance of tumor related gene mutations in colorectal cancer patients with schistosomiasis.METHODS Pathological samples were collected from 68 patients in the First People’Hospital of YueYang from December 1,2012 to October 1,2014,inclueding 42 colorectal cancer patients,26 of them complicated with schistosomiasis.Targeted Next-Generation Sequencing was used to detect the mutation status of the 22 common oncogenes.RESULTS In this study,79 mutation sites were found in patients complicated with schistosomiasis,and 96 mutation sites in the opposite group.Most of these mutations were Somatic single nucleotide mutation(SNVs)(168/175,96%),and no difference was found on SNVs between the two groups(P>0.05).Oncogene mutation was detected in25 patients that complicating schistosomiasis(average:3.03 genes)and 38 patients that not complicating schistosomiasis(average:2.28 genes),and no difference was found between the two groups(P=0.475).The most common mutations were TP53,the two groups were 65.38%(17/26)and 57.14%(24/42).CONCLUSION The relationship between schistosomiasis patients with colorectal cancer and tumor associated gene mutations in patients without schistosomiasis is not obvious,so the relationship between schistosomiasis and colorectal cancer needs further exploration.更多还原