Absence of the BRAF V600E mutation in pheochromocytoma

Abstract

Purpose

Pheochromocytomas (PCCs) are rare endocrine tumors originating from the adrenal medulla. These tumors display a highly heterogeneous mutation profile, and a substantial part of the causative genetic events remains to be explained. Recent studies have reported presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. This study sought to further investigate the occurrence of the BRAF V600E mutation in these tumors.

Methods

A cohort of 110 PCCs was screened for the BRAF V600E mutation using direct Sanger sequencing.

Results

All cases investigated displayed wild-type sequences at nucleotide 1799 in the BRAF gene.

Conclusions

Taken together with all previously screened tumors up to date, only 1 BRAF V600E mutation has been found among 361 PCCs. These findings imply that the BRAF V600E mutation is a rare event in pheochromocytoma.

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