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Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-11052

Perner, S; Wagner, P L; Demichelis, F; Mehra, R; LaFargue, C J; Moss, B J; Arbogast, S; Soltermann, A; Weder, W; Giordano, T J; Beer, D G; Rickman, D S; Chinnaiyan, A M; Moch, H; Rubin, M A (2008). EML4-ALK fusion lung cancer: a rare acquired event. Neoplasia, 10(3):298-302.

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Abstract

A recurrent gene fusion between EML4 and ALK in 6.7% of non-small cell lung cancers (NSCLCs) and NKX2-1 (TTF1, TITF1) high-level amplifications in 12% of adenocarcinomas of the lung were independently reported recently. Because the EML4-ALK fusion was only shown by a reverse transcription-polymerase chain reaction approach, we developed fluorescent in situ hybridization assays to interrogate more than 600 NSCLCs using break-apart probes for EML4 and ALK. We found that EML4-ALK fusions occur in less than 3% of NSCLC samples and that EML4 and/or ALK amplifications also occur. We also observed that, in most cases in which an EML4/ALK alteration is detected, not all of the tumor cells harbor the lesion. By using a detailed multi-fluorescent in situ hybridization probe assay and reverse transcription-polymerase chain reaction, we have evidence that other, more common mechanisms besides gene inversion exist including the possibility of other fusion partners for ALK and EML4. Furthermore, we confirmed the NKX2-1 high-level amplification in a significant subset of NSCLC and found this amplification to be mutually exclusive to ALK and EML4 rearrangements.

Item Type:Journal Article, refereed, original work
Communities & Collections:04 Faculty of Medicine > University Hospital Zurich > Institute of Surgical Pathology
DDC:610 Medicine & health
Language:English
Date:2008
Deposited On:28 Jan 2009 11:13
Last Modified:27 Nov 2013 16:29
Publisher:Neoplasia Press
ISSN:1476-5586
Publisher DOI:10.1593/NEO.07878
Official URL:http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=2259458&rendertype=abstract
PubMed ID:18320074
Citations:Web of Science®. Times Cited: 117
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Scopus®. Citation Count: 133

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