1 Department of Pathology, Peter MacCallum Cancer Centre, St Andrews Place, Victoria 3002, Australia ; 2 Department of Pathology, University of Melbourne, Victoria 3002, Australia.
Transl Lung Cancer Res. 2015 Apr;4(2):126-41. doi: 10.3978/j.issn.2218-6751.2015.01.10.
Somatic mutational profiling in cancer has revolutionized the practice of clinical oncology. The discovery of driver mutations in non-small cell lung cancer (NSCLC) is an example of this. Molecular testing of lung adenocarcinoma is now considered standard of care and part of the diagnostic algorithm. This article provides an overview of the workflow of molecular testing in a clinical diagnostic laboratory discussing in particular novel assays that are currently in use for somatic mutation detection in NSCLC focussing on epidermal growth factor receptor (EGFR) mutations and anaplastic lymphoma kinase (ALK), ROS1 and RET rearrangements.
在癌症中进行体细胞突变分析已经彻底改变了临床肿瘤学的实践。非小细胞肺癌 (NSCLC) 中驱动突变的发现就是一个例子。目前，肺腺癌的分子检测被认为是标准的护理方法，也是诊断算法的一部分。本文提供了临床诊断实验室中分子检测工作流程的概述，特别是目前用于 NSCLC 体细胞突变检测的新型检测方法，重点是表皮生长因子受体 (EGFR) 突变和间变性淋巴瘤激酶 (ALK)、ROS1 和 RET 重排。
