Searchable abstracts of presentations at key conferences in endocrinology

ea0070aep199 | Bone and Calcium | ECE2020

Biochemical and clinical findings distinguishing between the genetic and the acquired conditions in osteoporotic patients with low serum alkaline phosphatase levels

Sileo Federica , Guarnieri Vito , Indirli Rita , Guabello Gregorio , Longhi Matteo , Dito Giorgia , Corbetta Sabrina

Background: Hypophosphatasia is a rare genetic disease with low serum alkaline phosphatase (ALP) activity and hypophosphatasemia. It is caused by loss-of-function mutations and deletions of the tissue-nonspecific isoenzyme of alkaline phosphatase (TNSALP) gene; it has a wide range of severity in its phenotype, from death in utero to asymptomatic disease accidentally diagnosed in adult life. Furthermore, some diseases and drugs may induce hypophosphatasemia. Thus, the ...

ea0056p189 | Bone ' Osteoporosis | ECE2018

Novel heterozygous mutation of tissue-non-specific alkaline phosphatase (TNSALP) gene causing late-onset hypophosphatasia

Ruggeri Rosaria Maddalena , Certo Rosaria , Guarnieri Vito , Giovinazzo Salvatore , Ferrau Francesco , Cannavo Salvatore

Background: Hypophosphatasia (HPP) is a rare metabolic, inherited disease of bone metabolism, caused by loss-of-function mutations within the gene coding for TNSALP, that result in a decrease in serum ALP concentrations and consequent accumulation of ALP substrates outside of the cell, including inorganic pyrophosphate which inhibits bone mineralization. HPP leads to a variety of clinical manifestations across all ages and its prognosis is conditioned principally by the skelet...

ea0063oc1.3 | Calcium and Bone | ECE2019

Menin and EZH2 activities modulate the expression of the long non-coding RNA HAR1B in parathyroid tumors

Morotti Annamaria , Verdelli Chiara , Guarnieri Vito , Muscarella Lucia Anna , Silipigni Rosa , Guerneri Silvana , Vicentini Leonardo , Vaira Valentina , Corbetta Sabrina

Epigenetic deregulation is emerging as a component of the parathyroid tumorigenesis. We identified a long non-coding RNA (LNCRNA) signature clearly distinguishing parathyroid adenomas (PAds) and carcinomas from normal glands. Among the deregulated LncRNAS, HAR1B was upregulated in PAds harboring the common chromosome 11q loss of heterozygosity (Chr11q-LOH; n=10) compared with PAds harboring normal chromosome 11 haplotype (Chr11q-WT; n=12; P&...

ea0037oc8.3 | Endocrine tumours | ECE2015

miR-372 is aberrantly expressed in most parathyroid tumours and might contribute to parathyroid tumourigenesis by inhibiting CDKN1A/p21 and LATS2

Verdelli Chiara , Forno Irene , Vaira Valentina , Guarnieri Vito , Scillitani Alfredo , Cetani Filomena , Vicentini Leonardo , Balza Gianni , Beretta Edoardo , Corbetta Sabrina

We previously described aberrant expression of microRNAs belonging to the chromosome 19 cluster (C19MC) and the close miR-371-373 cluster in two-thirds of parathyroid carcinomas (PCas). Therefore, we investigated the involvement of the miR-371-373 cluster in parathyroid tumours, where miR-372 was the most consistently upregulated. miR-372 is known to be highly expressed in human embryonic stem cells and definitely downregulated upon differentiation. Moreover, miR-372 promotes ...

ea0037gp.30.06 | Endocrine tumours and neoplasia – General | ECE2015

The Wnt/β-catenin pathway regulates the expression of early embryonic stem cell genes in human parathyroid tumours

Verdelli Chiara , Forno Irene , Vaira Valentina , Guarnieri Vito , Scillitani Alfredo , Cetani Filomena , Vicentini Leonardo , Balza Gianni , Beretta Edoardo , Corbetta Sabrina

Though there is no evidence of a constitutive nuclear accumulation of β-catenin, the Wnt/β-catenin pathway might be deregulated in parathyroid tumours. We investigated unphosphorylated active β-catenin distribution by western blot in 16 typical parathyroid adenomas (PAds): β-catenin accumulation in the nuclear protein fractions varied from the levels detected in Caco-2 cells with constitutively active Wnt signalling (three PAds) to the levels measured in HE...

ea0081p300 | Calcium and Bone | ECE2022

BCYRN/BC200: identification of a novel circulating biomarker of parathyroid carcinoma

Morotti Annamaria , Cetani Filomena , Passoni Giulia , Borsari Simona , Guarnieri Vito , Verdelli Chiara , Stefania Tavanti Giulia , Ferrero Stefano , Corbetta Sabrina , Vaira Valentina

Parathyroid carcinomas (PCas) are rare endocrine malignant neoplasia characterized by an abnormal PTH secretion and, consequently, severe and uncontrolled hypercalcemia. Clinically, the preoperative diagnosis can be misleading, because PCas share some molecular and clinical similarities with benign lesions and are often indolent. The histological diagnosis of carcinoma is achieved based on the presence of mitotic nuclear figures, capsular invasion, parenchyma infiltration, vas...

ea0041gp115 | Endocrine Tumours | ECE2016

Loss of cells expressing the T-box transcription factor TBX1 might be associated with a quiescent phenotype in parathyroid tumours

Verdelli Chiara , Avagliano Laura , Ferrero Stefano , Guarnieri Vito , Cetani Filomena , Vicentini Leonardo , Beretta Edoardo , Scillitani Alfredo , Bulfamante Gaetano , Vaira Valentina , Corbetta Sabrina

Embryonic transcription factors have been involved in tumourigenesis. The transcription factor TBX1 regulates the embryonic parathyroid cells fate. Indeed, it has never been investigated in human adult parathyroids. Here, expression, function and regulation of the TBX1 gene were analyzed in adult normal and tumour parathyroid tissues. Immunohistochemistry identified 30–70% (mean±S.E.M, 52.0±7.3%) of cells expressing TBX1 at nuclear levels...

ea0041gp118 | Endocrine Tumours | ECE2016

Expression and regulation of the early embryonic stem cell genes in parathyroid tumours

Verdelli Chiara , Forno Irene , Ferrero Stefano , Guarnieri Vito , Scillitani Alfredo , Cetani Filomena , Vicentini Leonardo , Balza Gianni , Beretta Edoardo , Creo Pasquale , Vaira Valentina , Corbetta Sabrina

An embryonic gene signature has been suggested in parathyroid tumours. We investigated the expression of early embryonic stem cell (ESC) genes in parathyroid tumours. POU5F1/OCT4, SOX2 and NANOG transcripts were detected in almost all parathyroid adenomas (PAds; n=22) and atypical PAds (n=3), besides the variable expression of ESC genes KLF4, EGR1, and REX1/ZFP42. OCT4, SOX2 and NANOG proteins expression w...

ea0032p513 | Endocrine tumours and neoplasia | ECE2013

The embryonic transcription factor TBX1 is expressed in adult parathyroid cells and might be involved in parathyroid tumorigenesis

Verdelli Chiara , Varia Valentina , Meregalli Mirella , Terranegra Annalisa , Guarnieri Vito , Scillitani Alfredo , Passeri Elena , Vocentini Leonardo , Ferrero Stefano , Spada Anna , Corbetta Sabrina

Cancer cells and embryonic stem cells share many key biological properties and have common genetic signature: transcription factors regulating self-renewal and differentiation have been found expressed in human cancer cells. We focused our attention on TBX1, the gene involved in 22q11.2 microdeletion/DiGeorge syndrome, which is involved in heart, thymic and parathyroid cells differentiation.Real-time PCR, western blot and immunohistochemistry de...