Endocrine Abstracts

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...

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)...

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...

The beta-HLH transcription factors NeuroD1 and ASH1 are frequently expressed by pituitary adenomas, both being present in all corticotroph, most clinically non-secreting (CNS) and a subset of GH and/or PRL-secreting adenomas. We wished to investigate the expression of the related beta-HLH factors neurogenins (Ngn) 1, 2 and 3 in the pituitary (n=4) and in a series of pituitary adenomas (n=45). RT-PCR was performed at different amplification cycles (up to 45) in al...

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...

The aryl hydrocarbon receptor interacting protein (AIP) gene is abundantly expressed in normal somatotrophs. Somatotropinomas in patients with germline AIP mutations (AIPmut) are typically more aggressive than non-AIPmut adenomas and associated with higher GH/IGF1 secretion. AIP downregulation may also occur in sporadic somatotropinomas, especially in invasive tumours. We wished to evaluate the impact of somatostatin analogues (SSA) pre-treatment on AIP expression in sporadic ...

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...

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 ...

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 ...