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.
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The authors declare that they have no conflict of interest.
Ethical approval
All procedures performed in this study involving human participants were in accordance with the ethical standards of the 1964 Helsinki Declaration and its later amendments or comparable ethical standards, and the study was approved by the local ethics committee at Karolinska Institutet.
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Informed consent was obtained from all individual participants included in the study.
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Paulsson, J.O., Svahn, F., Welander, J. et al. Absence of the BRAF V600E mutation in pheochromocytoma. J Endocrinol Invest 39, 715–716 (2016). https://doi.org/10.1007/s40618-015-0420-6
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DOI: https://doi.org/10.1007/s40618-015-0420-6