title: Assessment ofALKgene fusions in lung cancer using the differential expression and exon integrity methods.
abstract: Anaplastic lymphoma kinase (ALK) gene fusion is a driving mutation underlying the development of non-small cell lung cancer (NSCLC). Accurate detection of ALK fusion is critical for the use of ALK inhibitors in the treatment of NSCLC. Commonly utilized methods for ALK detection include fluorescencein situhybridization (FISH) and immunohistochemistry (IHC). However, these methods are time-consuming and costly. In the present study, a method for assessing ALK gene fusion based on the differential expression levels of the ALK kinase and non-kinase domains was developed and evaluated, with the aim of providing a convenient and reliable method for the detection ofALKfusion. In addition, another method was established to determine the integrity of exons 19-20 and 20-21 of ALK, two genomic loci that are typically broken in ALK fusions. These novel methods were applied to detectALKfusion in 100 NSCLC patients, and were compared with IHC and FISH methods. The novel methods developed in the present study successfully detected ALK fusions in 10 samples. The concordances between the novel methods and IHC and FISH were 100%. Furthermore, the differential expression method was able to detect ALK fusions in cell-free urine samples, which was advantageous over FISH and IHC. The novel methods developed in the present study are cost-effective and easy to perform, and may provide simple and convenient techniques for the clinical assessment of ALK fusions, facilitating the use of targeted therapy for NSCLC.
authors.affiliation: Department of Pathology, Ningbo University School of Medicine, Ningbo, Zhejiang 315211, P.R. China.
authors.forename: Qing
authors.initials: Q
authors.lastname: Huang
authors.affiliation: Department of Thoracic Surgery, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510120, P.R. China.
authors.forename: Qiuhua
authors.initials: Q
authors.lastname: Deng
authors.affiliation: Department of Pathology, Ningbo University School of Medicine, Ningbo, Zhejiang 315211, P.R. China.
authors.forename: Lei
authors.initials: L
authors.lastname: Jiang
authors.affiliation: Department of Pathology, Ningbo University School of Medicine, Ningbo, Zhejiang 315211, P.R. China.
authors.forename: Rong
authors.initials: R
authors.lastname: Fang
authors.affiliation: Unigene Bioscience Co., Ltd., Ningbo, Zhejiang 315211, P.R. China.
authors.forename: Yinghua
authors.initials: Y
authors.lastname: Qiu
authors.affiliation: Department of Pathology, Ningbo University School of Medicine, Ningbo, Zhejiang 315211, P.R. China.
authors.forename: Ping
authors.initials: P
authors.lastname: Wang
authors.affiliation: Department of Pathology, Ningbo University School of Medicine, Ningbo, Zhejiang 315211, P.R. China.
authors.forename: Jeff X
authors.initials: JX
authors.lastname: Zhou
authors.affiliation: Department of Thoracic Surgery, The First Affiliated Hospital, Guangzhou Medical University, Guangzhou, Guangdong 510120, P.R. China.
authors.forename: Haihong
authors.initials: H
authors.lastname: Yang
keywords: anaplastic lymphoma kinase; crizotinib; lung cancer; targeted therapy