Identification of novel recurrent ETV6-IgH fusions in primary central nervous system lymphoma.

ABSTRACT:

Background

Primary central nervous system lymphoma (PCNSL) represents a particular entity within non-Hodgkin lymphomas and is associated with poor outcome. The present study addresses the potential clinical relevance of chimeric transcripts in PCNSL discovered by using RNA sequencing (RNA-seq).

Methods

Seventy-two immunocompetent and newly diagnosed PCNSL cases were included in the present study. Among them, 6 were analyzed by RNA-seq to detect new potential fusion transcripts. We confirmed the results in the remaining 66 PCNSL. The gene fusion was validated by fluorescence in situ hybridization (FISH) using formalin-fixed paraffin-embedded (FFPE) samples. We assessed the biological and clinical impact of one new gene fusion.

Results

We identified a novel recurrent ge

SUBMITTER: Bruno A 

PROVIDER: S-EPMC6280140 | biostudies-literature | 2018 Jul

REPOSITORIES: biostudies-literature