Searchable abstracts of presentations at key conferences in endocrinology

ea0022p663 | Neuroendocrinology and Pituitary (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Sellar lesions in Ollier disease: case report and a review of the literature

Jaffrain-Rea Marie-Lise , Giangaspero Felice , Esposito Vincenzo , Cantore Giampaolo

Ollier disease (OD) is a rare disease, with multiple enchondromas localized in the metaphysis of long bones, hands and feet, developing in the first decade of life, with potential malignant transformation into chondrosarcomas. OD is usually sporadic and probably caused by post-zygotic genetic alterations leading to mosaicism. A PTH/PTHrP receptor type 1 (PTHR1) gene mutation is present in some cases.Case report: A 21-years old male patient was referred t...

ea0035p835 | Pituitary Basic (<emphasis role="italic">Generously supported by IPSEN</emphasis>) | ECE2014

AIP expression in non-functioning pituitary adenomas is strongly associated with the gonadotroph phenotype but not with tumour aggressiveness

Rotondi Sandra , Oliva Maria Antonietta , Esposito Vincenzo , Ventura Luca , Giangaspero Felice , Alesse Edoardo , Jaffrain-Rea Marielise

The aryl hydrocarbon receptor interacting protein gene has been mainly involved in the pathogenesis of GH/PRL-secreting pituitary adenomas (PA). We wished to study the significance of AIP expression in clinically non-functioning PA (NFPA).Material and methods: 48 NFPA -27 gonadotroph (GnPA), 21 null cell (ncPA) – were studied for AIP, βFSH and cyclin D1 expression by real-time RT-PCR (qRT), compared with four normal post-mortem pituitaries (NP)...

ea0014p153 | (1) | ECE2007

The beta-HLH transcription factor neurogenin-2 is preferentially expressed by secreting pituitary adenomas

Fratticci Amato , Grieco Fabio , Spilioti Cristina , Giangaspero Felice , Esposito Vincenzo , Santoro Antonio , Ventura Luca , Alesse Edoardo , Jaffrain-Rea Marie-Lise

Beta-HLH transcription factors are involved in the ontogenesis of neural/neuroendocrine cells, and may play a role in the pathogenesis of neuroendocrine tumours. Neurogenin 2 (Ngn2) is expressed by the developing mouse pituitary. After preliminary data indicating its expression in the normal human pituitary, we have studied its phenotypic expression in normal and adenomatous pituitary tissues.Methods: Fifty-two pituitary adenomas (PA) – 23 clinicall...

ea0081rc4.1 | Rapid Communications 4: Pituitary and Neuroendocrinology 1 | ECE2022

Immunotherapy in a non-functioning metastatic pituitary neuroendocrine tumor. An encouraging case report

Feola Tiziana , Gianno Francesca , Verrico Monica , Giangaspero Felice , Tomao Silverio , Colonnese Claudio , Esposito Vincenzo , Isidori Andrea , Minniti Giuseppe , Jaffrain-Rea Marie-Lise

Introduction: Metastatic pituitary neuroendocrine tumors (PitNETs) or pituitary carcinomas are rare and challenging conditions. We present a recent and encouraging observation of a temozolomide (TMZ)-resistant clinically non-functioning metastatic PitNET showing a remarkable response to the anti-PDL1 drug Pembrolizumab.Case presentation: A 57-years-old man had transsphenoidal surgery in November 2012 for a large non-functioning intra/suprasellar mass rev...

ea0073pep13.1 | Presented ePosters 13: Pituitary and Neuroendocrinology | ECE2021

Factors associated with Aryl hydrocarbon Interacting Protein (AIP) expression in gonadotroph pituitary neuroendocrine tumours (Pit-NETs)

Polidoro Michela A. , Feola Tiziana , Gianno Francesca , Palumbo Valeria , Arcella Antonietta , Morace Roberta , De Angelis Michelangelo , Giangaspero Felice , Esposito Vincenzo , Jaffrain-Rea Marie-Lise

IntroductionAIP is a predisposing gene for GH/PRL-secreting PitNETs. Clinically non-functioning PitNETs (NFPT) occasionally occur in the setting of AIP germline mutations, sometimes arising from Pit-1 lineages. However, AIP overexpression has been observed in unselected NFPT and associations with the gonadotroph phenotype and/or tumour aggressiveness were suggested. We wished to evaluate the significance of AIP expression in gonadotroph tumours defined b...

ea0073aep19 | Adrenal and Cardiovascular Endocrinology | ECE2021

Aryl hydrocarbon receptor Interacting Protein (AIP) status in a functional adrenal adenoma occurring in a patient with a germline AIP mutation

Feola Tiziana , Capelli Roberta , Gianno Francesca , Compagnoni Chiara , Letizia Claudio , Toma Giorgio De , Ciardi Antonio , Vincentis Giuseppe De , Giangaspero Felice , Tessitore Alessandra , Marie-Lise Jaffrain-Rea

IntroductionAryl hydrocarbon receptor Interacting Protein (AIP), a pituitary tumour suppressing gene located in 11q13, is the most common predisposing gene for early-onset and familial acromegaly. Fifteen years after its identification, there is little evidence of AIP involvement in non-pituitary tumors. We had the opportunity to study AIP status in a cortisol-producing adenoma operated in an AIP mutation carrier.Case-report<p ...

ea0016p454 | Neuroendocrinology | ECE2008

Aryl hydrocarbon receptor interacting protein (AIP) expression in human pituitary adenomas

Jaffrain-Rea Marie-Lise , Spilioti Cristina , Vanbellinghen Jean-Francois , Daly Adrian , Gargano Donatella , D'Innocenzo Emanuela , Giangaspero Felice , Tichomirowa Maria , Esposito Vincenzo , Ventura Luca , Naves Luciana , Alesse Edoardo , Beckers Albert

Background: Germline AIP mutations confer a predisposition to pituitary adenomas (PA), usually in the setting of familial isolated pituitary adenomas (FIPA); AIP mutations account for 50% of familial acromegaly. AIP-related PA are GH, PRL-secreting or non-secreting. Little is known about AIP expression in PA. Although the prevalence is low, identifying AIP mutations in apparently sporadic PA is important for studying at-risk relatives. Pre-screening criteria would help select ...