Searchable abstracts of presentations at key conferences in endocrinology

ea0020p180 | Endocrine tumours and neoplasia | ECE2009

Papillary thyroid carcinoma associated with thyroid autoimmunity: clinical and molecular characterization

Muzza Marina , Colombo Carla , Perrino Michela , Rossi Stefania , Cirello Valentina , Beck-Peccoz Paolo , Fugazzola Laura

It is still debated if the coexistence of papillary thyroid cancer (PTC) with a thyroid autoimmune process is associated with a better or worst outcome. Moreover, though a direct relationship between oncogenes and the activation of a pro-inflammatory program has been documented, the genetic background of PTCs with associated autoimmunity is not known.Aim of the present study was to to investigate the clinical and molecular features of PTCs associated or ...

ea0092ps1-09-06 | Thyroid Cancer | ETA2023

Targeting the DNA damage response kinase CHK1 in TP53-mutated thyroid cancer: in vitro studies

Manzo Alessandro , Cirello Valentina , Stellaria Grassi Elisa , Colombo Carla , Fugazzola Laura , Persani Luca

Objectives: Differentiated TCs are generally sensitive to first line treatments and tyrosine kinase inhibitors (TKIs). However, part of them along with undifferentiated TC, namely Anaplastic (ATC) and Poorly Differentiated (PDTC), are aggressive and show refractoriness to tyrosine-kinase inhibitors (TKIs) treatments. A correlation between resistance to TKIs and inactivating TP53 mutations was proven in TC by our group, consistent with data obtained in other tumors. To...

ea0092ps3-29-07 | Treatment 2 | ETA2023

Hypocalcemia occurrence in patients with advanced thyroid cancer during tyrosine-kinase inhibitor treatment

Moneta Claudia , Trevisan Matteo , Colombo Carla , Ceruti Daniele , Giancola Noemi , Fugazzola Laura , De Leo Simone

Background: Several adverse events are recorded during treatment with tyrosine-kinase inhibitors (TKIs). Hypocalcemia was reported during phase III clinical trials with both Lenvatinib and Vandetanib, but scanty data are available in a real-life setting. Aim of our study was to evaluate hypocalcemia occurrence and its characteristics in a cohort of patients treated with these drugs for advanced thyroid cancer. Moreover, in patients treated with Lenvatinib, we examined a possib...

ea0081p217 | Thyroid | ECE2022

A combining pre-surgical thyroid risk score (TRS) for nodules with indeterminate cytology

Colombo Carla , Vannucchi Guia , Muzza Marina , Pogliaghi Gabriele , Palazzo Sonia , Dionigi Gianlorenzo , Persani Luca , Gazzano Giacomo , Fugazzola Laura

Background: Cytology is the gold standard method for the differential diagnosis of thyroid nodules, though 25−30% of them are classified as indeterminate and, in some cases, surgery is required for a definitive diagnosis. Aim: In order to reduce unnecessary thyroid surgeries, we set up a ‘thyroid risk score’ (TRS) to increase the diagnostic accuracy in a large series of patients with indeterminate cytology and to apply it to a validation ...

ea0049ep1432 | Thyroid (non-cancer) | ECE2017

Expression analyses of HABP2 in neoplastic and normal thyroid tissues: could this gene play a role in the pathogenesis of familial non medullary thyroid cancer?

Muzza Marina , Colombo Carla , Proverbio Maria Carla , Ercoli Giulia , Perrino Michela , Cirello Valentina , Vicentini Leonardo , Ferrero Stefano , Fugazzola Laura

Recently, the G534E variant of the HABP2 gene was reported as the underlying genetic defect in large kindred with non-syndromic familial non medullary thyroid cancer (FNMTC), but these data were not confirmed in additional cohorts. Consistently, we found in our wide series of FNMTC that the HABP2G534E variant is frequent, but does not segregate with the disease. Nevertheless, a possible role for this gene in the pathogenesis of FNMTC cannot definitely ruled out also because co...

ea0037gp.28.05 | Endocrine tumours and neoplasia – NETS | ECE2015

Filamin-A is involved in stabilisation, signal transduction, and angiogenesis regulation mediated by somatostatin receptor 2 in pancreatic neuroendocrine tumors

Vitali Eleonora , Cambiaghi Valeria , Loiarro Federica , Zerbi Alessandro , Colombo Piergiuseppe , Spada Anna , Mantovani Giovanna , Peverelli Erika , Carnaghi Carlo , Lania Andrea

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...

ea0016p199 | Diabetes and cardiovascular diseases | ECE2008

24 h glycemia variability correlates with arterial structure alteration in type 1 diabetes

Colombo Manuela Carla , Gamba Pierluigi , Failla Monica , Paleari Felice , Rigoldi Mauro , Perego Rita , Giannattasio Cristina , Mancia Giuseppe

Objective: Diabetes mellitus is characterized by vascular complications associated with arterial thickening. Although strict glycaemic control is clinically beneficial, limited or no evidence exists as to whether arterial damage is positively related to blood glucose levels and variability.Methods: Study purpose was to asses the relationship between arterial thickness and 24 h mean and S.D. of blood glucose in type 1 diabetes. Fifteen type...

ea0016p519 | Obesity | ECE2008

In the metabolic syndrome adrenergic overdrive is independent on the obese state

Colombo Manuela Carla , Quarti-Trevano Fosca , Dell'Oro Raffaella , Gamba Pierluigi , Arenare Francesca , Perego Rita , Ilardo Valeria , Grassi Guido , Mancia Giuseppe

Objective: The metabolic syndrome (MS) is characterized by a marked sympathetic activation. Whether this adrenergic overdrive is mainly dependent on the obese state or it can be detected also in absence of obesity is unknown, however.Design and Methods: In 25 male patients (age 41.4±yrs., mean±S.E.M.) with MS (ATP III criteria) and in 12 age-matched healthy male controls, we measured body mass index (BMI), waist circumference (WC...

ea0011p480 | Endocrine tumours and neoplasia | ECE2006

An in-frame complex germline mutation in the juxtamembrane intracellular domain causing RET activation in familial medullary thyroid carcinoma

Fugazzola L , Cordella D , Muzza M , Alberti L , Travaglini P , Colombo P , Beck-Peccoz P , Persani L

Activating mutations of the RET proto-oncogene, encoding a tyrosine kinase receptor, are associated with inherited syndromes, MEN2A and MEN2B, and with both familial and sporadic medullary thyroid cancer (MTC). Single base-pair missense mutations in the extracellular cysteine-rich domain are responsible for the majority of MEN2A and familial MTC (FMTC) cases. Rarely, somatic deletions and germline duplications of variable segments of the gene have been reported in spora...

ea0092ps1-09-05 | Thyroid Cancer | ETA2023

Inactivating mutations of TP53 and resistence to tyrosine-kinase inhibitors in patients affected with aggressive thyroid cancer

Cirello Valentina , Colombo Carla , Manzo Alessandro , Tosi Delfina , Gianelli Umberto , Gazzano Giacomo , Ferrero Stefano , Persani Luca , Fugazzola Laura

Objectives: Well differentiated thyroid cancers (WDTC) are generally sensitive to first line treatments or eventually to tyrosine kinase inhibitors (TKIs). However, a part of WDTC together with poorly differentiated (PDTC) and anaplastic (ATC) thyroid cancers are particularly aggressive and refractory to all treatments, TKIs included. Since TKIs resistance is proven to be related with the presence of TP53 mutations in other tumours, and TP53 alterations are f...