Department of Pathology, Haartman Institute, University of Helsinki, P.O. Box 21 (Haartmaninkatu 3), 00014 Helsinki, Finland.
Biomed Res Int. 2013;2013:757490. doi: 10.1155/2013/757490. Epub 2013 Jan 20.
Anaplastic lymphoma receptor tyrosine kinase (ALK) gene rearrangements occur in a subgroup of non-small cell lung carcinomas (NSCLCs). The identification of these rearrangements is important for guiding treatment decisions. The aim of our study was to screen ALK gene fusions in NSCLCs and to compare the results detected by targeted resequencing with results detected by commonly used methods, including fluorescence in situ hybridization (FISH), immunohistochemistry (IHC), and real-time reverse transcription-PCR (RT-PCR). Furthermore, we aimed to ascertain the potential of targeted resequencing in detection of ALK-rearranged lung carcinomas. We assessed ALK fusion status for 95 formalin-fixed paraffin-embedded tumor tissue specimens from 87 patients with NSCLC by FISH and real-time RT-PCR, for 57 specimens from 56 patients by targeted resequencing, and for 14 specimens from 14 patients by IHC. All methods were performed successfully on formalin-fixed paraffin-embedded tumor tissue material. We detected ALK fusion in 5.7% (5 out of 87) of patients examined. The results obtained from resequencing correlated significantly with those from FISH, real-time RT-PCR, and IHC. Targeted resequencing proved to be a promising method for ALK gene fusion detection in NSCLC. Means to reduce the material and turnaround time required for analysis are, however, needed.
间变性淋巴瘤激酶（ALK）基因重排在非小细胞肺癌（NSCLC）亚组中发生。这些重排的鉴定对于指导治疗决策很重要。我们的研究旨在筛选 NSCLC 中的 ALK 基因融合，并比较靶向重测序与荧光原位杂交（FISH）、免疫组织化学（IHC）和实时逆转录-PCR（RT-PCR）等常用方法检测到的结果。此外，我们旨在确定靶向重测序在检测 ALK 重排型肺癌中的潜力。我们通过 FISH 和实时 RT-PCR 评估了 87 例 NSCLC 患者的 95 例福尔马林固定石蜡包埋肿瘤组织标本的 ALK 融合状态，通过靶向重测序评估了 56 例患者的 57 例标本，通过 IHC 评估了 14 例患者的 14 例标本。所有方法均成功地应用于福尔马林固定石蜡包埋的肿瘤组织材料。我们在 5.7%（87 例患者中有 5 例）的患者中检测到 ALK 融合。重测序获得的结果与 FISH、实时 RT-PCR 和 IHC 获得的结果显著相关。靶向重测序被证明是一种很有前途的 NSCLC 中 ALK 基因融合检测方法。但是，需要减少分析所需的材料和周转时间。
