Mutation profiling in eight cases of vagal paragangliomas.

ABSTRACT:

Background

Vagal paragangliomas (VPGLs) belong to a group of rare head and neck neuroendocrine tumors. VPGLs arise from the vagus nerve and are less common than carotid paragangliomas. Both diagnostics and therapy of the tumors raise significant challenges. Besides, the genetic and molecular mechanisms behind VPGL pathogenesis are poorly understood.

Methods

The collection of VPGLs obtained from 8 patients of Russian population was used in the study. Exome library preparation and high-throughput sequencing of VPGLs were performed using an Illumina technology.

Results

Based on exome analysis, we identified pathogenic/likely pathogenic variants of the SDHx genes, frequently mutated in paragangliomas/pheochromocytomas. SDHB variants were found in three patients, whereas S

SUBMITTER: Kudryavtseva AV 

PROVIDER: S-EPMC7500026 | biostudies-literature | 2020 Sep

REPOSITORIES: biostudies-literature