Absence of BRAF mutation in pheochromocytoma and paraganglioma

Pheochromocytomas and Paragangliomas (PHEO/PARA) are rare endocrine tumors originating from the adrenal medulla. More than 20 genes are involved in the tumorigenesis of these tumors, but a substantial part of the causative genetic events remains unexplained. A recent study has reported the presence...

Full description

Saved in:
Bibliographic Details
Published in:Neoplasma 2017, Vol.64 (2), p.278-282
Main Authors: Vosecka, T, Vicha, A, Zelinka, T, Jencova, P, Pacak, K, Duskova, J, Benes, J, Guha, A, Stanek, L, Kohoutova, M, Musil, Z
Format: Article
Language:English
Subjects:
Adrenal Gland Neoplasms - genetics
Cohort Studies
Humans
Mutation
Paraganglioma - genetics
Pheochromocytoma - genetics
Proto-Oncogene Proteins B-raf - genetics
Citations: Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:Pheochromocytomas and Paragangliomas (PHEO/PARA) are rare endocrine tumors originating from the adrenal medulla. More than 20 genes are involved in the tumorigenesis of these tumors, but a substantial part of the causative genetic events remains unexplained. A recent study has reported the presence of the activating BRAF V600E mutation in PCC, suggesting a role for BRAF activation in tumor development. Other studies have not find this mutation. This study investigates the occurrence of the BRAF V600E mutation in these tumors.A cohort of 64 PHEO/PARA were screened for the BRAF V600E mutation using direct Sanger sequencing and QRT-PCR.All cases investigated displayed wild-type without V600E BRAF mutationTaken together with all previously screened tumors up to date, only 1 V600E BRAF mutation has been found among 427 PCCs. These findings imply that the V600E BRAF mutation is a rare event in PHEO/PARA.
ISSN:0028-2685
1338-4317
DOI:10.4149/neo_2017_215