Investigation of BRAFand CTNNB1 activating mutations in adrenocortical tumors

被引：0
作者：
G. Masi
E. Lavezzo
M. Iacobone
G. Favia
G. Palù
L. Barzon
机构：
[1] University of Padova,Department of Histology, Microbiology, and Medical Biotechnologies
[2] University of Padua,Department of Surgical and Gastroenterological Sciences
来源：
Journal of Endocrinological Investigation | 2009年 / 32卷
关键词：
Adrenocortical carcinoma; adrenocortical neoplasm; β-catenin; BRAF; mutation analysis; oncogene;
D O I：
暂无
中图分类号：
学科分类号：
摘要：
Background: Activating mutations of the BRAF oncogene play a central role in the development of various cancer types, but their role in human adrenocortical tumors is unknown. At variance, activating mutations of another oncogene, CTNNB1, which encodes β-catenin, have been shown to be common events in both benign and malignant adrenocortical tumors. Aim: To investigate the prevalence of BRAF and CTNNB1 activating mutations in sporadic adrenocortical tumors. Materials and methods: Tissue samples from 15 adrenocortical carcinomas and 41 adrenocortical adenomas were investigated for the presence of BRAF and CTNNB1 activating mutations by PCR amplification and direct sequencing. Results: An advanced invasive non-functioning adrenocortical carcinoma carried a somatic heterozygous BRAF V600E mutation, while 4 functioning and 4 non-functioning adenomas and 3 functioning carcinomas carried different CTNNB1 activating mutations. Conclusions: Activating BRAF somatic mutations may be occasionally found in advanced adrenocortical carcinomas, while CTNNB1 activating mutations are early and common events in adrenal tumorigenesis.
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页码：597 / 600
页数：3
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