Document Detail

Exon scanning by reverse transcriptase-polymerase chain reaction for detection of known and novel EML4-ALK fusion variants in non-small cell lung cancer.
MedLine Citation:
PMID:  21356191     Owner:  NLM     Status:  In-Data-Review    
Chromosomal inversions within chromosome 2p, resulting in fusions between the echinoderm microtubule-associated protein-like 4 (EML4) and anaplastic lymphoma kinase (ALK) genes, are a recent focus of treatment options for non-small cell lung cancer. Thirteen EML4-ALK fusion variants have been identified, affecting eight EML4 exons. We have developed an exon scanning approach using multiplex reverse transcriptase-polymerase chain reaction (RT-PCR) to amplify known and potential variants involving the first 22 EML4 exons. A total of 55 formalin-fixed, paraffin-embedded lung cancer tumors were screened, of which 5 (9%) were positive for EML4-ALK fusions. Four positive cases harbored known fusion variants: variant 3a, 3b, or both in three cases and variant 1 in one case. The fifth positive specimen harbored two novel variants, designated 8a and 8b, involving exon 17 of EML4. Fluorescence in situ hybridization confirmed the presence of EML4-ALK fusions in three of the four RT-PCR-positive specimens with sufficient tissue for examination, and also confirmed absence of fusions in all 19 RT-PCR-negative specimens tested. Immunohistochemistry analysis confirmed ALK protein expression in the sample containing the novel 8a and 8b variants. This RT-PCR-based exon scanning approach avoids the limitations of screening only for previously identified EML4-ALK fusions and provides a simple molecular assay for fusion detection in a clinical diagnostics setting.
Heather R Sanders; Hai-Rong Li; Jean-Marie Bruey; Jay A Scheerle; Aurelia M Meloni-Ehrig; Joann C Kelly; Constance Novick; Maher Albitar
Publication Detail:
Type:  Journal Article    
Journal Detail:
Title:  Cancer genetics     Volume:  204     ISSN:  2210-7762     ISO Abbreviation:  Cancer Genet     Publication Date:  2011 Jan 
Date Detail:
Created Date:  2011-03-01     Completed Date:  -     Revised Date:  -    
Medline Journal Info:
Nlm Unique ID:  101539150     Medline TA:  Cancer Genet     Country:  United States    
Other Details:
Languages:  eng     Pagination:  45-52     Citation Subset:  IM    
Copyright Information:
Copyright © 2011 Elsevier Inc. All rights reserved.
Department of Hematology and Oncology, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA.
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