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J Endocrinol Invest. 2016 Jun;39(6):715-6. doi: 10.1007/s40618-015-0420-6. Epub 2015 Dec 28.

Absence of the BRAF V600E mutation in pheochromocytoma.

Author information

1
Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, CCK R8:04, 17176, Stockholm, Sweden. johan.paulsson@stud.ki.se.
2
Cancer Center Karolinska, CCK, Karolinska University Hospital, 171 76, Solna, Stockholm, Sweden. johan.paulsson@stud.ki.se.
3
Department of Oncology and Pathology, Karolinska Institutet, Karolinska University Hospital, CCK R8:04, 17176, Stockholm, Sweden.
4
Cancer Center Karolinska, CCK, Karolinska University Hospital, 171 76, Solna, Stockholm, Sweden.
5
Department of Clinical and Experimental Medicine, Faculty of Health Sciences, Linköping University, 581 85, Linköping, Sweden.
6
Department of Digestive, Hepato-Biliary and Endocrine Surgery, CHU Nancy - Hospital Brabois Adultes, University de Lorraine, 54511, Vandoeuvre-les-Nancy, France.
7
Department of Surgery, Region Östergötland, 58185, Linköping, Sweden.

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.

KEYWORDS:

Adrenal; BRAF; Mutation; Pheochromocytoma; Sequencing

PMID:
26710756
DOI:
10.1007/s40618-015-0420-6
[Indexed for MEDLINE]

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