Neoplasma. 2017;64(2):278-282. doi: 10.4149/neo_2017_215.
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 mutationTaken 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.
嗜铬细胞瘤和副神经节瘤（PHEO/PARA）是起源于肾上腺髓质的罕见内分泌肿瘤。这些肿瘤的发生涉及 20 多个基因，但仍有很大一部分致病遗传事件尚未得到解释。最近的一项研究报告了 PCC 中 BRAF V600E 突变的存在，提示 BRAF 激活在肿瘤发生中的作用。其他研究并未发现这种突变。本研究调查了这些肿瘤中 BRAF V600E 突变的发生情况。使用直接 Sanger 测序和 QRT-PCR 对 64 例 PHEO/PARA 进行了 BRAF V600E 突变筛查。所有研究的病例均显示野生型，无 V600E BRAF 突变。与迄今为止所有已筛选的肿瘤一起，在 427 例 PCC 中仅发现 1 例 V600E BRAF 突变。这些发现表明 V600E BRAF 突变在 PHEO/PARA 中是一种罕见事件。
