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BRAF mutation: Current and future clinical pathological applications in colorectal carcinoma.
Histology and Histopathology ( IF 2.5 ) Pub Date : 2018-12-28 , DOI: 10.14670/hh-18-079
Jessica Yan-Seen Ng 1 , Cu Tai Lu 1 , Alfred King-Yin Lam 2
Affiliation  

The aims are to review the relevance of the BRAF mutations in the clinical settings of colorectal carcinoma. All the literature concerning BRAF mutations and colorectal carcinoma published in PubMed from 2010 to 2018 was reviewed. Multiple variants of BRAF mutations exist in colorectal cancer, the most common type being V600E. The mutation is found in 5 to 15% of colorectal carcinomas and is less common in Asian populations. BRAF mutations are linked with older age, female gender, cigarette smoking and are more common in the right (proximal) portion of the large intestine. BRAF mutations are associated with carcinomas of high histological grade and advanced cancer stages. Often BRAF mutated carcinomas demonstrate adverse histological features such as lymphovascular invasion, perineural invasion, tumour budding and lymph node metastases. BRAF mutations are found in serrated polyposis syndrome and have a negative correlation with hereditary nonpolyposis colorectal cancer (HNPCC). An array of methods of detection of BRAF mutation in colorectal carcinoma are available, such as immunohistochemistry and next generation sequencing, etc. Combinatorial approaches involving anti-BRAF therapies targeting both MAPK signalling as well as the PI3K/mTOR pathway could be a new approach for treatment of metastatic colorectal carcinoma. To conclude, BRAF mutation is important in the pathogenesis of colorectal cancer. Further research on the detection method as well as its role in target therapy will help to improve the management of patients with colorectal cancer.

中文翻译:

BRAF突变:目前和将来在大肠癌中的临床病理应用。

目的是审查BRAF突变在大肠癌临床环境中的相关性。回顾了2010年至2018年发表在PubMed上的有关BRAF突变和大肠癌的所有文献。大肠癌中存在BRAF突变的多种变体,最常见的类型是V600E。该突变在5%至15%的大肠癌中发现,在亚洲人群中较少见。BRAF突变与年龄较大,女性,吸烟有关,在大肠的右侧(近端)更为常见。BRAF突变与组织学高和晚期癌症有关。通常,BRAF突变的癌表现出不利的组织学特征,例如淋巴管浸润,神经周浸润,肿瘤出芽和淋巴结转移。BRAF突变在锯齿状息肉病综合征中发现,与遗传性非息肉病性结直肠癌(HNPCC)呈负相关。可以使用多种检测结直肠癌中BRAF突变的方法,例如免疫组织化学和下一代测序等。涉及针对MAPK信号以及PI3K / mTOR途径的抗BRAF治疗的组合方法可能是一种新的治疗方法。转移性大肠癌的治疗。总之,BRAF突变在结直肠癌的发病机理中很重要。对检测方法及其在靶治疗中的作用的进一步研究将有助于改善大肠癌患者的治疗。可以使用多种检测结直肠癌中BRAF突变的方法,例如免疫组织化学和下一代测序等。涉及针对MAPK信号传导和PI3K / mTOR途径的抗BRAF治疗的组合方法可能是一种新的治疗方法。转移性大肠癌的治疗。总之,BRAF突变在结直肠癌的发病机理中很重要。对检测方法及其在靶治疗中的作用的进一步研究将有助于改善大肠癌患者的治疗。可以使用多种检测结直肠癌中BRAF突变的方法,例如免疫组织化学和下一代测序等。涉及针对MAPK信号以及PI3K / mTOR途径的抗BRAF治疗的组合方法可能是一种新的治疗方法。转移性大肠癌的治疗。总之,BRAF突变在结直肠癌的发病机理中很重要。对检测方法及其在靶治疗中的作用的进一步研究将有助于改善大肠癌患者的治疗。涉及针对MAPK信号以及PI3K / mTOR途径的抗BRAF治疗的组合方法可能是治疗转移性结直肠癌的新方法。总之,BRAF突变在结直肠癌的发病机理中很重要。对检测方法及其在靶治疗中的作用的进一步研究将有助于改善大肠癌患者的治疗。涉及针对MAPK信号传导和PI3K / mTOR途径的抗BRAF治疗的组合方法可能是治疗转移性结直肠癌的新方法。总之,BRAF突变在结直肠癌的发病机理中很重要。对检测方法及其在靶治疗中的作用的进一步研究将有助于改善大肠癌患者的治疗。
更新日期:2020-08-21
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