Endocrine Abstracts

Protein kinase C (PKC) is a family of serine-threonine kinases that regulate many cellular processes including proliferation and survival. Previous evidence has shown that PKC is involved in the control of human medullary thyroid carcinoma (MTC) proliferation and survival by modulating apoptosis, with a mechanism that implicates PKCβII isoform and translocation in different subcellular compartments.In this study, we investigated the role of PKC&#948...

Autoimmune chronic thyroid disease (AITD) is associated with atrophic gastritis (CAG) in 29–42% of the cases. CAG and the consequent hypergastrinemia, listed as precancerous lesion, can predispose to neuroendocrine cells hyperplasia and the development of neuroendocrine gastric tumors (NET). Aim of this study was to evaluate the association of AITD with risk of gastric NET and the efficacy of somatostatin analogues treatment.Patients: From 2009 to 2...

Background: 20% of the familial isolated pituitary adenoma (FIPA) population harbour an aryl hydrocarbon receptor-interacting protein (AIP) gene mutation. The recognition of whether a variant is pathogenic can be difficult, in cases where the observed change does not lead to a truncated protein. Segregation with disease in a family, in silico predictions, loss of heterozigosity in the tumour, in vitro functional studies and screening of the variant in controls may help in asce...

Many studies demonstrated that somatic BRAF gene mutation analysis increases diagnostic accuracy for papillary thyroid carcinoma (PTC), even from very small samples. The gold standard for point mutations research is direct sequencing, that implies DNA extraction, PCR with specific primers, sequencing reaction and run on an automatic sequencer. This is an expensive and time consuming method, and the possible contamination with wild-type DNA not coming from the nodule significan...

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 ...

Pituitary tumour transforming gene 1 (PTTG1) is over-expressed in a variety of endocrine-related tumors. We investigated PTTG1 expression in human C-cell hyperplasia (CCH), human medullary thyroid carcinoma (MTC) and in the human MTC cell line, TT. PTTG1 expression was significantly higher (P<0.01) in CCH (threefold), in papillary thyroid cancer and in MTC (fivefold) than in normal thyroid, and in MTC lymph-node metastases as compared to primary lesions (approximate...

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...

Acromegaloidism includes clinical features of acromegaly with GH and IGF1 normal levels at baseline and dynamic, without findings of extrapituitary or pituitary tumour. It has been associated with various conditions without a definite pattern. The aim was to evaluate whether there are differences in some hormonal pituitary axis from acromegaloid subjects with respect to acromegalic and healthy subjects. We designed a comparative, multicenter, case–control study in three h...

Acromegaloidism is a very rare entity (have been 54 cases reported worldwide) that presents with clinical acromegaly and normal somatotropic axis, without findings of pituitary or extrapituitary tumour. Its origin has not been clearly established, although it is associated with several pathophysiological conditions. The local ethics committee approved to perform an observational and multicenter study in three hospitals from a region with approximately 800 000 people over 18 ye...