| Exon scanning by reverse transcriptase-polymerase chain reaction for detection of known and novel EML4-ALK fusion variants in non-small cell lung cancer. | |
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MedLine Citation:
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PMID: 21356191 Owner: NLM Status: In-Data-Review |
Abstract/OtherAbstract:
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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. |
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Authors:
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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:
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Type: Journal Article |
Journal Detail:
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Title: Cancer genetics Volume: 204 ISSN: 2210-7762 ISO Abbreviation: Cancer Genet Publication Date: 2011 Jan |
Date Detail:
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Created Date: 2011-03-01 Completed Date: - Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 101539150 Medline TA: Cancer Genet Country: United States |
Other Details:
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Languages: eng Pagination: 45-52 Citation Subset: IM |
Copyright Information:
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Copyright © 2011 Elsevier Inc. All rights reserved. |
Affiliation:
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Department of Hematology and Oncology, Quest Diagnostics Nichols Institute, San Juan Capistrano, CA, USA. |
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From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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