【摘要】：結直腸癌(colorectal cancer,CRC)是我國常見的致死性腫瘤類型之一。根據體細胞突變譜預測抗EGFR單抗治療療效已成為轉移性結直腸癌(metastatic colorectal cancer,m CRC)治療的標準步驟。由于臨床上轉移樣本難以獲得,只能采用原發(fā)腫瘤替代進行檢測。原發(fā)和配對轉移腫瘤間的遺傳異質性會導致原發(fā)灶取樣無法代表轉移灶突變譜。目前CRC原發(fā)和配對轉移腫瘤間遺傳異質性程度仍存在爭議。本文就CRC原發(fā)和配對轉移基因組譜的對比研究進行了綜述,并討論了原發(fā)與配對轉移腫瘤遺傳異質性形成的原因及應對策略。
[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.
【作者單位】： 昆明理工大學醫(yī)學院;昆明醫(yī)科大學第一附屬醫(yī)院胃腸與疝外科;云南省消化病研究所;
【基金】：云南省衛(wèi)生廳內設機構云南省消化病研究所項目資助課題(編號:2016NS001,2016NS003,2016NS004) 云南省教育廳科學研究項目資助課題(編號:2015J054);云南省教育廳科學研究基金重大專項資助課題(編號:ZD2015010)~~
【分類號】：R735.34

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1 景黎君;遺傳異質性與癌癥風險預測相關性研究及肺癌基因診斷模型建立[D];華中科技大學;2014年

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