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.
Type de document :
Article dans une revue
Journal of Endocrinological Investigation, Editrice Kurtis, 2016, 39 (6), pp.715 - 716. 〈10.1007/s40618-015-0420-6〉
Liste complète des métadonnées

https://hal.univ-lorraine.fr/hal-01667573
Contributeur : Ngere Ul <>
Soumis le : mardi 19 décembre 2017 - 14:39:35
Dernière modification le : lundi 23 avril 2018 - 15:53:25

Identifiants

Collections

Citation

O. Paulsson, F. Svahn, J. Welander, L. Brunaud, P. Söderkvist, et al.. Absence of the BRAF V600E mutation in pheochromocytoma. Journal of Endocrinological Investigation, Editrice Kurtis, 2016, 39 (6), pp.715 - 716. 〈10.1007/s40618-015-0420-6〉. 〈hal-01667573〉

Partager

Métriques

Consultations de la notice

20