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Absence of BRAF mutation in pheochromocytoma and paraganglioma

Publikace na Ústřední knihovna, 1. lékařská fakulta, 2. lékařská fakulta |
2017

Tento text není v aktuálním jazyce dostupný. Zobrazuje se verze "en".Abstrakt

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.