Absence of BRAF mutation in pheochromocytoma and paraganglioma

作者：Vosecka T; Vicha A; Zelinka T; Jencova P; Pacak K; Duskova J; Benes J; Guha A; Stanek L; Kohoutova M; Musil Z^*

来源：Neoplasma, 2017, 64(2): 278-282.

DOI：10.4149/neo_2017_215

• pheochromocytoma
• paraganglioma
• BRAF
• mutation

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.

• 出版日期2017
• 单位NIH