GUT：结肠炎相关结直肠癌进化史研究

2018-07-11 zhangfan MedSci原创

研究发现炎症性结肠癌癌前克隆含有广泛的单核苷酸突变和拷贝数变化，并最终进展为癌症，该发现对炎症相关结肠癌的早期诊断及预防具有重要意义

炎症性肠病患者（IBD）的结肠癌风险增加，结肠炎相关结肠癌(CA-CRC)其分子特征有别于偶发性结肠癌(S-CRC)。近日研究人员利用多种测序方法对CA-CRC发病进展史进行了研究。

研究人员对来自12例CA-CRC患者的55个癌区、癌旁粘膜和血液样本进行外显子序列测定。采用单核苷酸多态性阵列和低通全基因组测序技术，对非增生粘膜(n=9)、低度异型增生(LGD)、高级别异型增生(HGD；n=13)、混合LGD/HGD(n=7)和CA-CRC(n=19)进行基因组全拷贝数谱分析，梳理导致CA-CRC事件的发病进展史。

研究发现12例患者中，10人微卫星稳定，平均突变负担为每Mb3.0个单核苷酸突变(SNA)，突变负担较S-CRC患者高20%，其特征提示存在衰老相关突变过程。研究发现CA-CRC患者非增生粘膜组织有较大的突变负担（平均为47 SNAs，包括与邻近的CA-CRC共享突变）表明CA-CRC存在癌前突变微环境。CA-CRC通常表现为三倍体(40%)或四倍体(20%)。系统发育分析显示，拷贝数变化(CNAs)在非发育不良的肠组织中累积，但LGD/HGD过渡阶段常涉及“灾难性”CNA增加。

研究发现炎症性结肠癌癌前克隆含有广泛的单核苷酸突变和拷贝数变化，并最终进展为癌症，该发现对炎症相关结肠癌的早期诊断及预防具有重要意义。

原始出处：

Ann-Marie Baker et al. Evolutionary history of human colitis-associated colorectal cancer . Gut. July 10 2018.

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2019-06-13 124987cdm26暂无昵称

#结肠炎相关#

28 0
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2018-07-12 crystal0564

#结直肠#

25 0
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2018-07-12 神功盖世

学习

53 0
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2018-07-11 qingfengqishi5

学习了.学习了

56 0
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2018-07-11 183****7028

学习

52 0
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2018-07-11 sunfeifeiyang

阅

58 0
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2018-07-11 zjy775885

好

52 0

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