Activating FGFR1 Mutations in Sporadic Pheochromocytomas.

ABSTRACT:

Introduction

Pheochromocytomas are neuroendocrine tumors of the adrenal glands. Up to 40% of the cases are caused by germline mutations in one of at least 15 susceptibility genes, making them the human neoplasms with the highest degree of heritability. Recurrent somatic alterations are found in about 50% of the more common sporadic tumors with NF1 being the most common mutated gene (20-25%). In many sporadic tumors, however, a genetic explanation is still lacking.

Materials and methods

We investigated the genomic landscape of sporadic pheochromocytomas with whole-exome sequencing of 16 paired tumor and normal DNA samples and extended confirmation analysis in 2 additional cohorts comprising a total of 80 sporadic pheochromocytomas.

Results

We discovered on average 33 n

SUBMITTER: Welander J 

PROVIDER: S-EPMC5762800 | biostudies-literature | 2018 Feb

REPOSITORIES: biostudies-literature