EML4-ALK fusion lung cancer: A rare acquired event

Sven Perner, Patrick L. Wagner, Francesca Demichelis, Rohit Mehra, Christopher J. LaFargue, Benjamin J. Moss, Stefanie Arbogast, Alex Soltermann, Walter Weder, Thomas J. Giordano, David G. Beer, David S. Rickman, Arul M. Chinnaiyan, Holger Moch, Mark A. Rubin*

*Corresponding author for this work
213 Citations (Scopus)


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.

Original languageEnglish
Issue number3
Pages (from-to)298-302
Number of pages5
Publication statusPublished - 03.2008


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