Endocrine Abstracts

Adrenocortical tumors (ACT) include benign and malignant tumors. Adrenocortical carcinomas (ACC) are highly malignant neoplasms with a poor prognosis, but their genetic alterations to date identified are limited. Laboratory studies on ACT have revealed a wide variety of signaling pathways involved in these tumors, among these Wnt/β-catenin signaling pathway and Ras/Raf/MEK/ERK pathway resulted often disregulated. Another important factor in many signaling pathways is the ...

Hereditable forms account for 30–40% of pheochromocytomas (pheo). The role of germ-line mutation of VHL, RET, SDHB, SDHD gene has been largely elucidated. However, genotyping a group of 172 sporadic or familial pheo, we have characterize five unrelated probands with familial pheo without any sequence variants of RET (7 exons), or of the entire coding sequence of VHL, SDHB, SDHC or SDHD.The proband #1 had a bilateral pheo when 32 and a local recurren...