Co-occurrence of mutations in <i>NF1</i> and other susceptibility genes in pheochromocytoma and paraganglioma.

ABSTRACT:

Introduction

The percentage of patients diagnosed with pheochromocytoma and paraganglioma (altogether PPGL) carrying known germline mutations in one of the over fifteen susceptibility genes identified to date has dramatically increased during the last two decades, accounting for up to 35-40% of PPGL patients. Moreover, the application of NGS to the diagnosis of PPGL detects unexpected co-occurrences of pathogenic allelic variants in different susceptibility genes.

Methods

Herein we uncover several cases with dual mutations in NF1 and other PPGL genes by targeted sequencing. We studied the molecular characteristics of the tumours with co-occurrent mutations, using omic tools to gain insight into the role of these events in tumour development.

Results

Amongst 23 patient

SUBMITTER: Mellid S 

PROVIDER: S-EPMC9905101 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature