Fusion genes with ALK as recurrent partner in ependymoma-like gliomas: a new brain tumor entity?

ABSTRACT:

Background

We have previously characterized 19 ependymal tumors using Giemsa banding and high-resolution comparative genomic hybridization. The aim of this study was to analyze these tumors searching for fusion genes.

Methods

RNA sequencing was performed in 12 samples. Potential fusion transcripts were assessed by seed count and structural chromosomal aberrations. Transcripts of interest were validated using fluorescence in situ hybridization and PCR followed by direct sequencing.

Results

RNA sequencing identified rearrangements of the anaplastic lymphoma kinase gene (ALK) in 2 samples. Both tumors harbored structural aberrations involving the ALK locus 2p23. Tumor 1 had an unbalanced t(2;14)(p23;q22) translocation which led to the fusion gene KTN1-ALK. Tumor 2 had an

SUBMITTER: Olsen TK 

PROVIDER: S-EPMC4578580 | biostudies-literature | 2015 Oct

REPOSITORIES: biostudies-literature