Mutational Profile and Potential Molecular Therapeutic Targets of Pheochromocytoma.

ABSTRACT:

Purpose

Pheochromocytoma/paraganglioma (PCC/PGL; collectively known as PPGL) can be driven by germline and somatic mutations in susceptibility genes. We aimed to investigate the mutation profile and clinical features of pathogenic genes in highly genetically heterogeneous PPGL and to preliminary explore molecular therapeutic targets in PPGL.

Methods

We established a panel of 260 genes, including susceptibility genes of PPGL and other important tumorigenic genes to sequence 107 PPGL tissues.

Results

Overall, 608 genomic mutations were identified in 107 PPGL tissues. Almost 57% of PPGL tissue samples exhibited pathogenic mutations, and the most frequently mutated gene was SDHB (15/107, 14%). SDHB and HRAS were the most commonly mutated genes in germ

SUBMITTER: Ma X 

PROVIDER: S-EPMC9368203 | biostudies-literature | 2022

REPOSITORIES: biostudies-literature