Case Report: A novel LHFPL3::NTRK2 fusion in dysembryoplastic neuroepithelial tumor.

Neurotrophic tyrosine receptor kinase () rearrangements are oncogenic drivers of various types of adult and pediatric tumors, including gliomas. However, rearrangements are extremely rare in glioneuronal tumors. Here, we report a novel rearrangement in a 24-year-old female with dysembryoplastic neuroepithelial tumor (DNT), a circumscribed WHO grade I benign tumor associated with epilepsy. By utilizing targeted RNA next-generation sequencing (NGS), fluorescence hybridization (FISH), reverse transcriptase PCR (RT-PCR), and Sanger sequencing, we verified an in-frame fusion between and the lipoma fusion partner-like 3 (). This oncogenic gene rearrangement involves 5' and 3' , retaining the entire tyrosine kinase domain of genes. Moreover, the targeted DNA NGS analysis revealed an (p.R132H) mutation, a surprising finding in this type of tumor. The pathogenic mechanism of the in this case likely involves aberrant dimerization and constitutive activation of RTK signaling pathways.