Editorial Material: Absence of the BRAF V600E mutation in pheochromocytoma in JOURNAL OF ENDOCRINOLOGICAL INVESTIGATION, vol 39, issue 6, pp 715-716
2016 (English)In: Journal of Endocrinological Investigation, ISSN 0391-4097, E-ISSN 1720-8386, Vol. 39, no 6, 715-716 p.Article in journal, Editorial material (Other academic) PublishedText
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.
Place, publisher, year, edition, pages
SPRINGER , 2016. Vol. 39, no 6, 715-716 p.
Adrenal; Pheochromocytoma; Sequencing; BRAF; Mutation
IdentifiersURN: urn:nbn:se:liu:diva-129146DOI: 10.1007/s40618-015-0420-6ISI: 000375920000013PubMedID: 26710756OAI: oai:DiVA.org:liu-129146DiVA: diva2:936061