The anaplastic lymphoma kinase (ALK) gene rearrangement is a driver gene of non-small cell lung cancer (NSCLC). Positive expression of ALK gene rearrangement has been considered a molecular subtype of NSCLC, that there are special pathological characteristics and clinical prognosis. Furthermore, the tyrosine kinase inhibitor has demonstrated high effective in treating ALK positive NSCLC patients. Thus making molecular diagnostic testing for ALK expression is an important step in the process of pathological diagnosis. Currently, many detecting ALK expression assays are available or in development, clinical pathologists focus on how to choose the best method for routine diagnosis of lung cancer. There are many domestic and international authoritative guidelines recommend ALK detecting assays, technological process and relative standard. In the current review, we summarize the diagnostic tests available and the special sample types that could be used to identify patients with ALK-positive NSCLC.
间变性淋巴瘤激酶（anaplastic lymphoma kinase, ALK）融合基因是非小细胞肺癌（non-small cell lung cancer, NSCLC）的驱动基因，存在此基因表达的ALK阳性NSCLC已被认为是NSCLC的一种分子亚型，具有较独特的临床病理特征和预后，更为重要的是，ALK抑制剂对于此类晚期患者具有明显的疗效。因此，如何诊断此类患者便成为了病理诊断工作中相当重要的部分。目前ALK阳性NSCLC的诊断方法较为多样且各有优缺点，如何挑选最佳方法用于肺癌样本的常规诊断成为临床病理所关注的重点。国内外已有较多权威指南或共识推荐了诊断方法及其流程或相关标准。基于此，本文对ALK阳性NSCLC的诊断方法及特殊检测样本类型做一综述。