Recurrent SPECC1L-NTRK fusions in pediatric sarcoma and brain tumors.

ABSTRACT: The identification of rearrangements driving expression of neurotrophic receptor tyrosine kinase (NTRK) family kinases in tumors has become critically important because of the availability of effective, specific inhibitor drugs. Whole-genome sequencing (WGS) combined with RNA sequencing (RNA-seq) can identify novel and recurrent expressed fusions. Here we describe three SPECC1L-NTRK fusions identified in two pediatric central nervous system cancers and an extracranial solid tumor using WGS and RNA-seq. These fusions arose either through a simple balanced rearrangement or in the context of a complex chromoplexy event. We cloned the SPECC1L-NTRK2 fusion directly from a patient sample and showed that enforced expression of this fusion is sufficient to promote cytokine-ind

SUBMITTER: Khuong-Quang DA 

PROVIDER: S-EPMC7784491 | biostudies-literature | 2020 Dec

REPOSITORIES: biostudies-literature