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结直肠癌中KRAS和NRAS突变共存:支持肿瘤异质性概念的一例报告

Coexistence of and Mutations in Colorectal Cancer: A Case Report Supporting The Concept of Tumoral Heterogeneity.

作者信息

Larki Pegah, Gharib Ehsan, Yaghoob Taleghani Mohammad, Khorshidi Fatemeh, Nazemalhosseini-Mojarad Ehsan, Asadzadeh Aghdaei Hamid

机构信息

Basic and Molecular Epidemiology of Gastrointestinal Disorders Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

Gastroenterology and Liver Disease Research Center, Research Institute for Gastroenterology and Liver Diseases, Shahid Beheshti University of Medical Sciences, Tehran, Iran.

出版信息

Cell J. 2017 Spring;19(Suppl 1):113-117. doi: 10.22074/cellj.2017.5123. Epub 2017 May 17.

DOI:10.22074/cellj.2017.5123
PMID:28580315
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC5448326/
Abstract

The detection of and mutations is a crucial step for the correct therapeutic approach and predicting the epidermal growth factor receptor (EGFR)-targeted therapy resistance of colorectal carcinomas. The concomitant and mutations occur rarely in the colorectal cancers (CRCs) with the prevalence of less than 0.001% of the cases. In patients with -mutant tumors, mutations should not regularly be tested unless the patient is participating in a clinical trial enriching for the presence of or -mutated tumor. The current report demonstrates a case with advanced adenocarcinoma of the colon showing the coexistence of and mutations and may have profound clinical implications for disease progression and therapeutic responses.

摘要

检测 和 突变是采取正确治疗方法以及预测结直肠癌表皮生长因子受体(EGFR)靶向治疗耐药性的关键步骤。 和 突变同时出现的情况在结直肠癌(CRC)中很少见,其发生率不到病例总数的0.001%。在患有 -突变肿瘤的患者中,除非患者参与针对 或 -突变肿瘤存在情况的临床试验,否则通常不应常规检测 突变。本报告展示了一例晚期结肠腺癌病例,该病例显示 与 突变并存,这可能对疾病进展和治疗反应具有深远的临床意义。

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本文引用的文献

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Similar but different: distinct roles for KRAS and BRAF oncogenes in colorectal cancer development and therapy resistance.相似却又不同:KRAS和BRAF致癌基因在结直肠癌发生发展及治疗耐药中的独特作用
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Rare Though Not Mutually Exclusive: A Report of Three Cases of Concomitant KRAS and BRAF Mutation and a Review of the Literature.罕见但并非相互排斥:同时存在 KRAS 和 BRAF 突变的三例报告及文献复习。
J Cancer. 2013;4(4):320-2. doi: 10.7150/jca.3619. Epub 2013 Mar 28.
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Patient with colorectal cancer with heterogeneous KRAS molecular status responding to cetuximab-based chemotherapy.患有结直肠癌且KRAS分子状态异质性的患者对基于西妥昔单抗的化疗有反应。
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Clin Cancer Res. 2010 Feb 1;16(3):790-9. doi: 10.1158/1078-0432.CCR-09-2446. Epub 2010 Jan 26.
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