Absence of the BRAF V600E mutation in pheochromocytoma.
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.
['Paulsson|Johan O|JO|', 'Svahn|F|F|', 'Welander|J|J|', 'Brunaud|L|L|', 'Söderkvist|P|P|', 'Gimm|O|O|', 'Stenman|A|A|', 'Juhlin|C C|CC|']
D000310:Adrenal Gland Neoplasms D006801:Humans D009154:Mutation D010673:Pheochromocytoma D011379:Prognosis D048493:Proto-Oncogene Proteins B-raf
BRAF Mutation Pheochromocytoma Adrenal Sequencing