Searchable abstracts of presentations at key conferences in endocrinology

ea0035p12 | Adrenal cortex | ECE2014

New drugs switching off Wnt/β-catenin signaling in adrenocortical tumor cells

Rubin Beatrice , Pezzani Raffaele , Cicala Maria Verena , Iacobone Maurizio , Mantero Franco

Introduction: Adrenocortical tumors (ACT) are common diseases mostly benign, but among them, adrenocortical carcinomas (ACC) appear highly aggressive with metastatic potential. Wnt/β-catenin pathway is frequently switched on in ACT, with β-catenin greatly dephosphorylated and consequently activated. While IWR1 induces an increase in Axin2 protein levels, XAV939 inhibits tankyrase 1 and 2 (thus stabilizing Axin): both stimulate β-catenin phosphorylation and degra...

ea0032p20 | Adrenal cortex | ECE2013

Investigation of β-catenin, N-cadherin, and E-cadherin expression in adrenocortical tumors

Rubin Beatrice , Pezzani Raffaele , Cicala Maria Verena , Iacobone Maurizio , Olivotto Andrea , Fassina Ambrogio , Manteri Franco

Background: Adrenocortical tumors (ACT) are classified as adenomas (ACA) or carcinomas (ACC). β-Catenin constitutive activation is a frequent alteration in benign and malignant ACT. E-cadherin was discovered as a protein associated with β-catenin which plays a crucial role in cadherin-mediated cell adhesion. N-cadherin seems to be involved in the development of malignant ACT, but information regarding expression of N-cadherin or E-cadherin in ACT is very limited....

ea0020p8 | Adrenal | ECE2009

Effect of universal somatostatin analog (SOM230) on primary adrenal cell cultures

Mariniello Barbara , Finco Isabella , Rubin Beatrice , Patalano Anna , Ferasin Sergio , Iacobone Maurizio , Fassina Ambrogio , Mantero Franco

Introduction: Somatostatin (SST) is a widely distributed polypeptide that modulates the endocrine and exocrine secretion, cellular proliferation and differentiation, and apoptosis via G protein-linked receptors. Our previous studies showed high SSTR expression in adrenocortical carcinoma (ACC), aldosterone producing adenoma (APA) and in cortisol producing adenoma (CPA). Only very few information are available about the effectiveness of SST analogs in adrenal tumors.<p clas...

ea0063gp98 | Adrenal and Neuroendocrine - Basic | ECE2019

Methylation status and gene expression of steroidogenic enzymes in benign adrenocortical tumors

Di Dalmazi Guido , Morandi Luca , Rubin Beatrice , Pilon Catia , Asioli Sofia , Maffeis Valeria , Vicennati Valentina , Pagotto Uberto , Fallo Francesco

Background: DNA methylation has been recognized as a putative regulatory mechanism for CYP11B2 in primary hyperaldosteronism. We aimed to investigate the DNA methylation and the expression of a panel of genes encoding several enzymes involved in steroidogenesis in adrenocortical benign tumors.Methods: We collected a total of 60 adrenocortical tissues, including 9 non-functioning adrenal adenomas, 9 adenomas associated with autonomous cortisol se...

ea0032p17 | Adrenal cortex | ECE2013

Role of adrenal vein sampling in primary aldosteronism: impact of different diagnostic criteria on subtype diagnosis

Cicala Maria-Verena , Salva Monica , Miotto Diego , Rubin Beatrice , Pezzani Raffaele , Patalano Anna , Iacobone Maurizio , Mariniello Barbara , Mantero Franco

In patients with primary aldosteronism (PA), adrenal vein sampling (AVS) is considered the gold standard to distinguish between unilateral and bilateral autonomous production of aldosterone, while diagnostic imaging tests by CT scan or MRI are often inconclusive for the diagnosis. To date agreement is lacking on the best criteria indicating successful cannulation and lateralization.The aim of the study was to evaluate the impact of different diagnostic c...

ea0035p536 | Endocrine tumours and neoplasia | ECE2014

Aurora kinases inhibitors Vx-680, SNS314 and ZM447439 in adrenocortical tumors

Pezzani Raffaele , Rubin Beatrice , Bertazza Loris , Cicala Maria Verena , Barollo Susi , Iacobone Maurizio , Mian Caterina , Scaroni Carla , Ulisse Salvatore , Mantero Franco

Background: Adrenocortical tumors (ACT) include benign and malignant forms. Adrenocortical carcinomas (ACC) are highly malignant neoplasms with poor prognosis and strong metastatic potential. Aurora kinase family members (AK) are serine/threonine kinase involved in the regulation of mitosis. Aurora kinase A (AKA) promotes centrosome maturation and spindle assembly, while aurora kinase B (AKB) is necessary for spindle assembly checkpoint and cytokinesis.A...

ea0070aep43 | Adrenal and Cardiovascular Endocrinology | ECE2020

CYP11B2 DNA methylation pattern is discordant in aldosterone-producing adenomas and in concurrent aldosterone-producing cell clusters

Di Dalmazi Guido , Morandi Luca , Rubin Beatrice , Pilon Catia , Maffeis Valeria , Asioli Sofia , Vicennati Valentina , Pagotto Uberto , Fassina Ambrogio , Fallo Francesco

Background: Previous studies have shown an association between low CYP11B2 DNA methylation levels and high CYP11B2 mRNA levels in aldosterone-producing adenoma (APA), suggesting that epigenetic mechanisms play a pivotal role for regulating CYP11B2 function in primary aldosteronism. It has been proposed that aldosterone-producing cell clusters (APCCs) may become a source of autonomous aldosterone production when evolving into APA.Aim: Our aim was to deter...

ea0049gp5 | Adrenal 1 | ECE2017

Protein Kinase A signaling saves regulatory subunit IIβ from PRKACA mutation-mediated degradation

Weigand Isabel , Bathon Kerstin , Ronchi Cristina , Rizk-Rabin Marthe , Di Dalmazi Guido , Wild Vanessa , Rubin Beatrice , Vanselow Jens T , Schlosser Andreas , Calebiro Davide , Beuschlein Felix , Bertherat Jerome , Fassnacht Martin , Sbiera Silviu

Protein Kinase A (PKA) consists of two catalytic and two regulatory subunits with several isoforms (Cα,β,γ, RIα,IIα,Iβ,IIβ). In 30–40% of cortisol-producing adrenocortical adenomas (CPA) heterozygous activating somatic mutations in the catalytic subunit α (Cα) of PKA have been found. Previous reports found strikingly reduced levels of RIIβ in CPA compared to other adrenocortical tumors. Here, we investigated the correlatio...

ea0032p1099 | Thyroid cancer | ECE2013

The prevalence, the tumorigenic role and the functional implications of rare BRAF alterations in a cohort of Italian patients with thyroid carcinomas

Pezzani Raffaele , Barollo Susi , Cristiani Andrea , Redaelli Marco , Zambonin Laura , Rubin Beatrice , Bertazza Loris , Zane Mariangela , Mucignat-Caretta Carla , Bulfone Alessandro , Pennelli Gianmaria , Rosa Pelizzo Maria , Mantero Franco , Moro Stefano , Mian Caterina

Background: Papillary thyroid carcinoma (PTC) is the most common malignant tumor of the thyroid gland, accounting for 74–80% of all thyroid cancers. The T1799T>A transversion is an activating mutation of the BRAF oncogene that is common in conventional PTC and specific to it.Aims: To study the prevalence, tumorigenic role and biomolecular implications of rare BRAF variants in a large cohort of patients.Study desig...

ea0041oc1.1 | Adrenal - Basic &amp; Clinical | ECE2016

Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation

Ronchi Cristina , Di Dalmazi Guido , Sbiera Silviu , Assie Guillaume , Weigand Isabel , Calebiro Davide , Appenzeller Silke , Rubin Beatrice , Waldmann Jens , Scaroni Carla , Bartsch Detlef , Mantero Franco , Mannelli Massimo , Kastelan darko , Chiodini Iacopo , Bertherat Jerome , Reincke Martin , Strom Tim , Fassnacht Martin , Beuschlein Felix

Genetic alterations affecting the PKA/cAMP pathway are commonly found in cortisol-producing adrenocortical adenomas (ACAs), while activating mutations in the gene coding for β-catenin (CTNNB1) have been reported in both adenomas and carcinomas. However, the molecular pathogenesis of most ACAs is still unclear. Aim of the study was a comprehensive genetic characterization of sporadic ACAs and the identification of novel molecular markers involved in adrenal tumori...