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结直肠癌原发与配对转移肿瘤遗传异质性研究进展

发布时间:2018-07-18 14:45
【摘要】:结直肠癌(colorectal cancer,CRC)是我国常见的致死性肿瘤类型之一。根据体细胞突变谱预测抗EGFR单抗治疗疗效已成为转移性结直肠癌(metastatic colorectal cancer,m CRC)治疗的标准步骤。由于临床上转移样本难以获得,只能采用原发肿瘤替代进行检测。原发和配对转移肿瘤间的遗传异质性会导致原发灶取样无法代表转移灶突变谱。目前CRC原发和配对转移肿瘤间遗传异质性程度仍存在争议。本文就CRC原发和配对转移基因组谱的对比研究进行了综述,并讨论了原发与配对转移肿瘤遗传异质性形成的原因及应对策略。
[Abstract]:Colorectal cancer (CRC) is one of the common fatal tumor types in China. Predicting the therapeutic effect of anti-EGFR-McAb based on somatic mutation spectrum has become the standard procedure for the treatment of metastatic colorectal cancer (metastatic colorectal cancerm CRC). Because clinical metastasis samples are difficult to obtain, primary tumor substitution can only be used for detection. The genetic heterogeneity between primary and paired metastatic tumors leads to the failure of the sampling of primary tumors to represent the mutation spectrum of metastatic tumors. At present, the degree of genetic heterogeneity between CRC primary and paired metastatic tumors is still controversial. In this paper, the comparative studies of primary and paired metastatic genomes of CRC were reviewed, and the causes and countermeasures of genetic heterogeneity of primary and paired metastatic tumors were discussed.
【作者单位】: 昆明理工大学医学院;昆明医科大学第一附属医院胃肠与疝外科;云南省消化病研究所;
【基金】:云南省卫生厅内设机构云南省消化病研究所项目资助课题(编号:2016NS001,2016NS003,2016NS004) 云南省教育厅科学研究项目资助课题(编号:2015J054);云南省教育厅科学研究基金重大专项资助课题(编号:ZD2015010)~~
【分类号】:R735.34

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1 景黎君;遗传异质性与癌症风险预测相关性研究及肺癌基因诊断模型建立[D];华中科技大学;2014年



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