Endocrine Abstracts

The change of aminoacid Arginine (CGG) to Glutamine (CAG) at position 171 (R171Q) in the MEN1 gene has been occasionally reported in MEN1 carriers, but also in 1.4 to 5% subjects among the general population, therefore it is still unclear whether it might represent a polymorphism and/or it has a role in tumourigenesis. The aim of our study was to evaluate the presence of the R171Q polymorphism in patients with MEN1-related states presenting for MEN1 genetic screening. F...

Familial pituitary adenoma is frequently associated with germinal mutations of several genes, including menin gene. MEN1 syndrome is an autosomic dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors, and pituitary adenomas, due to inactivating mutations of the MenI gene (11q13). MEN1 mutations are scattered within and around the menin open reading frame and are mainly represented by single nucleotide polymorphisms (SNPs), and ...

Everolimus (RAD001), an immunosuppressant drug, has antineoplastic activity in human neoplasia, including endocrine tumors, due to its ability to inhibit the AKT down-stream signaling pathway. It has been demonstrated that AKT is overexpressed and up-regulated in pituitary tumor, including ACTH-producing pituitary tumors, that are still orphan of an effective medical therapy. We therefore investigated the effects of RAD001 on cell viability, apoptosis and mTOR phosphorilation ...

GH and insulin-like growth factor 1 (IGF1) are known to promote breast carcinogenesis. Even if breast cancer (BC) incidence in not increased in female acromegalic patients, mortality is greater as compared to general population. In order to evaluate whether GH/IGF1 excess might influence BC response to therapy, accounting for the increased mortality, we evaluated the effects of GH and IGF1 on cell proliferation of a BC cell line, the MCF7 cells, in the presence of doxorubicine...

Effective medical therapy for persistent/recurrent medullary thyroid carcinoma (MTC) is not available, yet. Everolimus (RAD001) is a Rapamycin derivative, a potent mTOR pathway inhibitor. RAD001 has been employed in several clinical studies demonstrating antiproliferative and apoptotic effects in human tumors, both in vitro and in vivo, also in combination with somatostatin analogs. The aim of our study was to investigate the antiproliferative effects of RAD001 i...