Searchable abstracts of presentations at key conferences in endocrinology

ea0041ep859 | Pituitary - Basic | ECE2016

A C-terminal inhibitor of HSP90 decreases GH-promoter activity and growth hormone secretion in a cellular model of somatotrophinomas

Ciato Denis , Regazzo Daniela , Occhi Gianluca , Scaroni Carla , Stalla Gunter , Paez-Pereda Marcelo

Heat shock protein 90 (HSP90) plays a pivotal role in maturation and stabilization of proteins in conditions of stress. Many HSP90 client proteins are involved in oncogenic signaling and cancer progression, therefore HSP90 inhibitors have a potential as pharmaceutical agents. We reported a strong HSP90 overexpression in corticotroph adenomas and the treatment with C-terminal HSP90 inhibitors has potent anti-tumorigenic and anti-secretory effects in these tumors in vitro</e...

ea0016p421 | Neuroendocrinology | ECE2008

Glucose-dependent insulinotropic polypeptide receptor (GIPR) in human pituitary adenomas

Occhi Gianluca , Losa Marco , Albiger Nora , Scanarini Massimo , Del Verme Jacopo , Mantero Franco , Scaroni Carla

Glucose-dependent insulinotropic polypeptide (GIP) receptor is a member of the G protein-coupled receptors family. According to its incretin properties, GIPR is expressed in tissues such as pancreas, stomach and adipose tissue. However GIPR expression pattern appears to be broader, as it was detected in other tissues such as heart, lung and the central nervous system, thus suggesting either novel ligands for GIPR or novel actions for GIP. Moreover, in some patients with food-d...

ea0014p155 | (1) | ECE2007

The effect of SOM230 on cell proliferation and cortisol secretion in the human adrenal carcinoma cell line H295R

Mariniello Barbara , Cervato Sara , Opocher Giuseppe , Albiger Nora , Occhi Gianluca , Scaroni Carla , Mantero Franco

Adrenocortical carcinoma (AC) is a rare neoplasm with poor prognosis. Medical treatment of AC is actually based on the use of op’DDD (mitotane) with or without traditional chemotherapeutic agents. Only very few information are available about the effectiveness of somatostatin analogs in AC. In human adrenal gland the expression of all five somatostatin receptor (SSTR) subtypes was previously demonstrated. A differential expression was shown in adrenal adenomas and carcino...

ea0070aep621 | Pituitary and Neuroendocrinology | ECE2020

9-CIS retinoic acid decreases pomc expression and cell viability in experimental model of ectopic cushing syndrome

Regazzo Daniela , Barbot Mattia , Ceccato Filippo , Nora Albiger , laura lizzul , Fiorella Calabrese , Federico Rea , Andrea Zuin , Boscaro Marco , Occhi Gianluca , Carla Scaroni

Ectopic Cushing syndrome (EAS) is a rare condition characterized by ACTH-dependent hypercortisolism resistant to normal physiologic suppression by glucocorticoids. EAS is due to an extra-pituitary tumor producing bioactive molecules generated by post-translational cleavage of the proopiomelanocortin gene (POMC). EAS is associated with significant morbidity and mortality and although surgical resection of the primary ACTH-producing tumor remains the mainstay of therapy, not all...

ea0021p273 | Pituitary | SFEBES2009

The R304X mutation of the Aryl hydrocarbon receptor interacting protein (AIP) gene in familial isolated pituitary adenomas: mutational Hot-Spot or founder effect?

Trivellin Giampaolo , Occhi Gianluca , Jaffrain-Rea Marie-Lise , Albiger Nora , Ceccato Filippo , De Menis Ernesto , Angelini Mariolina , Ferasin Sergio , Mantero Franco , Beckers Albert , Scaroni Carla

Background: Familial isolated pituitary adenomas (FIPA) is a rare inherited disorder accounting for about 2% of pituitary adenomas. Mutations in the Aryl hydrocarbon receptor Interacting Protein (AIP) gene have been described in about 15% of FIPA families and rarely in early onset sporadic pituitary adenomas. Among the AIP mutations reported so far, the R304X represents, after the Finnish founder mutation Q14X, the second most common one.Me...

ea0081rc6.6 | Rapid Communications 6: Endocrine-Related Cancer | ECE2022

The clinical and molecular evaluation of the GIP/GIPR axis in Medullary Thyroid Cancer (MTC)

Occhi Gianluca , Bertazza Loris , Barollo Susi , Galletta Eva , Mondin Alberto , Zovato Stefania , Iacobone Maurizio , Zilio Eleonora , Avallone Serena , Lefkimmiatis Konstantions , Di Benedetto Giulietta , Mian Caterina , Scaroni Carla , Regazzo Daniela

The glucose-dependent insulinotropic polypeptide receptor (GIPR) is a 7-transmembrane class B G-protein coupled receptor that mediates the incretin response after nutrient stimulation. Although mostly involved in metabolic disorders, in the last years an improper activation of the GIP/GIPR axis has been increasingly recognized in endocrine tumors, with a potential diagnostic and prognostic value. In Medullary Thyroid Cancer (MTC), a neuroendocrine tumor of the parafollicular C...

ea0090oc7.4 | Oral Communications 7: Pituitary and Neuroendocrinology 2 | ECE2023

Lysine demethylase KDM1A and ectopic expression of GIP-receptor in somatotropinomas of patients with paradoxical response to oral glucose

Chasseloup Fanny , Tosca Lucie , Regazzo Daniela , Proust Alexis , Hage Mirella , Kuhn Emmanuelle , Jublanc Christel , Mokhtari Karima , Salenave Sylvie , Gaillard Stephan , Parker Fabrice , Boch Anne-Laure , Tachdjian Gerard , Chanson Philippe , Bouligand Jerome , Occhi Gianluca , Kamenicky Peter

Introduction: Paradoxical increase of GH following oral glucose load has been described in ~30% of patients with acromegaly and has been related to the ectopic expression of the glucose-dependent insulinotropic polypeptide (GIP) receptor (GIPR) in somatotropinomas. Recently, we identified germline pathogenic variants of lysine demethylase 1A (KDM1A) in patients with GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing’s syndrome. Patients...

ea0044p167 | Neuroendocrinology and pituitary | SFEBES2016

Polymorphism or mutation? – The role of the R304Q missense AIP mutation in the predisposition to pituitary adenoma

Mothojakan Nadira B , Ferrau Francesco , Dang Mary N , Barlier Anne , Chanson Philippe , Occhi Gianluca , Daly Adrian F , Schofl Christof , Dal Jakob , Gadelha Monica R , Ludman Mark , Kapur Sonal , Iacovazzo Donato , Korbonits Marta

Introduction: Heterozygous mutations in the AIP gene are associated with young-onset pituitary adenomas while homozygous loss of AIP in animal models is lethal. As early diagnosis could lead to better outcomes, family members of AIP mutation-positive patients need follow up. The R304Q variant is commonly described as pathogenic based on clinical assessment. However, it is also present in the general population (minor-allele-frequency (MAF) 0.0007&#15...