分子诊断在结直肠癌中的应用

Molecular Diagnostic Applications in Colorectal Cancer.

作者信息

Huth Laura, Jäkel Jörg, Dahl Edgar

机构信息

Molecular Oncology Group, Institute of Pathology, Medical Faculty of the RWTH Aachen University, Pauwelsstrasse 30, D-52074 Aachen, Germany.

出版信息

Microarrays (Basel). 2014 Jun 26;3(3):168-79. doi: 10.3390/microarrays3030168.

DOI:10.3390/microarrays3030168

PMID:27600342

原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC4996361/

Abstract

Colorectal cancer, a clinically diverse disease, is a leading cause of cancer-related death worldwide. Application of novel molecular diagnostic tests, which are summarized in this article, may lead to an improved survival of colorectal cancer patients. Distinction of these applications is based on the different molecular principles found in colorectal cancer (CRC). Strategies for molecular analysis of single genes (as KRAS or TP53) as well as microarray based techniques are discussed. Moreover, in addition to the fecal occult blood testing (FOBT) and colonoscopy some novel assays offer approaches for early detection of colorectal cancer like the multitarget stool DNA test or the blood-based Septin 9 DNA methylation test. Liquid biopsy analysis may also exhibit great diagnostic potential in CRC for monitoring developing resistance to treatment. These new diagnostic tools and the definition of molecular biomarkers in CRC will improve early detection and targeted therapy of colorectal cancer.

摘要

结直肠癌是一种临床表现多样的疾病，是全球癌症相关死亡的主要原因。本文总结的新型分子诊断测试的应用可能会提高结直肠癌患者的生存率。这些应用的区分基于在结直肠癌（CRC）中发现的不同分子原理。讨论了单基因（如KRAS或TP53）的分子分析策略以及基于微阵列的技术。此外，除了粪便潜血试验（FOBT）和结肠镜检查外，一些新型检测方法为结直肠癌的早期检测提供了途径，如多靶点粪便DNA检测或基于血液的Sept9 DNA甲基化检测。液体活检分析在CRC中监测治疗耐药性的发展方面也可能具有巨大的诊断潜力。这些新的诊断工具以及CRC中分子生物标志物的定义将改善结直肠癌的早期检测和靶向治疗。