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Neoplasma Vol.64, No.2, p.278-282, 2017 |
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| Title: Absence of BRAF mutation in pheochromocytoma and paraganglioma | ||
| Author: T. VOSECKA, A. VICHA, T. ZELINKA, P. JENCOVA, K. PACAK, J. DUSKOVA, J. BENES, A. GUHA, L. STANEK, M. KOHOUTOVA, Z. MUSIL | ||
| Abstract: 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 mutation Taken 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. |
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| Keywords: pheochromocytoma, paraganglioma, BRAF, mutation | ||
| Published online: 14-Mar-2017 | ||
| Year: 2017, Volume: 64, Issue: 2 | Page From: 278, Page To: 282 | |
| doi:10.4149/neo_2017_215 |
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