Endocrine Abstracts

Medullary thyroid carcinoma (MTC) is a rare neuroendocrine tumor that originates from parafollicular thyroid C cells and accounts for 5% -10% of thyroid cancers. In all inherited cases of MTC, and in about 40% of sporadic cases, activating mutations of the receptor tyrosine kinase proto-oncogene RET are found. Constitutively active RET triggers signaling pathways involved in cell proliferation, survival and motility, but the mechanisms underlying malignant transformation of C-...

Objective: Several studies reported that a long-time therapy with somatostatin analogs (SSTa) in acromegaly could induce persistent remission event after drug withdrawal. The aim of this study was to evaluate GH/IGF-I secretion after SSTa discontinuation in a series of acromegalic patients.Materials and methods: Data of 21 patients regularly referred to our Centre and previously included in a multicentre study, have been updated at the last available fol...

Background: Subclinical hypothyroidism (SH) is a frequent clinical condition with a prevalence of 3–15% in general population. It is defined by elevated TSH levels with normal thyroid hormones [free thyroxine (FT4) and free triiodothyronine (FT3)]. Similar to prolactin, high TSH levels may be caused by macroTSH, a large molecular sized TSH with a low bioactivity. The aim of the study was to assess the prevalence of macroTSH in patients with subclinical hypothyroidism....

Background: In acromegalic patients, quality of life reduction and neuropsychological impairment are common, in addition to well-known complications related to the pituitary adenoma and to the GH/IGF-I excess. Acromegalic patients need a lot of outpatient visits and a multidisciplinary approach during the management of the disease and its comorbidities. Aim of the project is to analyze the role of an electronic health device (eHD) with remote monitoring in management of acrome...

Although generally benign, pituitary tumors frequently present local invasiveness that strongly reduces neurosurgery success. We recently demonstrated a role for the actin binding protein cofilin in promoting non functioning pituitary tumors invasiveness and an inhibitory effect of dopamine receptor type 2. Somatostatin (SS) receptor type 2 (SSTR2) is the main target of pharmacological therapy of GH-secreting pituitary tumors, reducing both GH secretion and cell proliferation,...

Pulmonary neuroendocrine tumors (PNTs) comprise a spectrum of neoplasms, ranging from low grade carcinoids to the highly malignant small cell lung cancers. Several studies identified cytoskeleton protein Filamin A (FLNA) as determinant in cancer progression and metastasis. To date, the role of FLNA in PNTs aggressiveness and progression is still unknown.To address this question, we decided: i) to evaluate FLNA expression in PNTs ranging from typical carc...

SSTR2 is one of the main pharmacological target for GH-secreting pituitary adenomas treatment and the cytoskeletal protein FLNA plays an important role in tumor responsiveness by regulating SSTR2 expression and signaling. Single-Molecule Imaging was used to investigate the spatial distribution of FLNA-SSTR2 at the plasma membrane level and the involvement of FLNA in SSTR2 mobility, receptor clustering organization/internalization. This method is based on labeling SNAP/CLIP-tag...

Epi/genetic defects at the imprinted GNAS locus, that encodes the α subunit of the stimulatory G protein (Gsα), have been associated with a heterogeneous group of rare diseases, termed as Pseudohypoparathyroidism. Most GNAS-based disorders have the common feature of episodic de novo formation of heterotopic ossifications (HO) in subcutaneous tissues. The mosaic tissue distribution of HO suggests that pathogenesis involves an abnormal differentiation of precu...

Somatostatin receptor type 2 (SST2) is the main pharmacological target of long-acting somatostatin analogues (SSA) widely used in patients with pancreatic neuroendocrine tumours (P-NETs). A subset of patients is resistant to SSA, although the molecular mechanisms responsible for resistance are poorly understood. Several studies identified cytoskeleton protein interactions as determinant in receptor anchoring, expression and signalling. Since SST2 was recently demonstrated to a...

We report on the clinical and biochemical outcomes in a 20-year-old male suffering from active craniofacial monostotic fibrous dysplasia (MFD) treated with the RANK-L inhibitor, Denosumab, following unsatisfactory responses to prior long-term bisphosphonates therapy. The patient had been treated over 9 years with pamidronate (cumulative dose of 81 mg), but experienced only mild reductions in pain scores. Following initiation of Denosumab 60 mg subcutaneously, bone pain and bon...