Searchable abstracts of presentations at key conferences in endocrinology

ea0040l13 | Cellular and animal models in Pheochromocytoma/Paragangliomas research: Role of microenvironment | ESEBEC2016

Cellular and animal models in pheochromocytoma/paragangliomas research: role of microenvironment

Mannelli M , Rapizzi E , Canu L , Ercolino T , Giache V

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30-40% of these tumors are due to e germ-line mutation in one of the 13 main susceptibility genes which include: the tumor-suppressor gene VHL; the proto-oncogene RET; the tumor-suppressor gene Nf1; the genes encoding the four subunits of the succinate dehydrogenase (SDH); the SDHAF2/SDH5 gene that is responsible for the flavination of the SDHA subunit;...

ea0026p362 | Adrenal medulla | ECE2011

Succinate dehydrogenase (SDH) mutations: biochemical and functional effects in pheochromocytoma/paraganglioma tissues

Rapizzi E , Ercolino T , Canu L , Giache V , Mannelli M

Pheochromocytoma (PHEO)/paraganglioma (PGL) are neural crest-derived tumors, and about 25% of the apparently sporadic cases are due to a germ line mutation in one of the susceptibility genes. The group of these genes includes the genes encoding three of the four subunits of the SDH, and the recently discovered gene, SDHAF2/SDH5, responsible for the flavination of the SDHA subunit.Although several hypotheses have been proposed, the molecular events by whi...

ea0014p118 | (1) | ECE2007

Novel germline VHL mutations associated to uncommon clinical presentations

Ercolino Tonino , Becherini Lucia , Simi Lisa , Sole Gaglianò Maria , Nesi Gabriella , Valeri Andrea , Mannelli Massimo

The von Hippel-Lindau (VHL) syndrome is an inherited multi-tumor disorder characterized by clinical heterogeneity and high penetrance. Pheochromocytoma (Pheo) is present in 10-15% of cases. It can be isolated or associated with other lesions such as hemangioblastomas, kidney cysts or cancer, and pancreatic lesions. Pheos secrete norepinephrine and are generally located in the adrenals. While performing genetic testing in patients affected by apparently sporadic pheos or PGLs, ...

ea0049ep92 | Adrenal medulla | ECE2017

Role of microenvironment on metabolic control of murine pheochromocytoma SDHB silenced cells

D'Antongiovanni Vanessa , Richter Susan , Martinelli Serena , Canu Letizia , Ercolino Tonino , Eisenhofer Graeme , Pacak Karel , Rapizzi Elena , Mannelli Massimo

Pheochromocytomas (PHEOs) and paragangliomas (PGLs) are rare neuroendocrine tumors. About 30–40% of Pheo/PGLs are due to a germ-line mutation in one of the 13 main susceptibility genes which include the genes encoding the four subunits of the succinate dehydrogenase (SDH - mitochondrial complex II). In PHEO/PGL due to SDHB mutations up to 80% of affected patients develop metastatic disease and no successful cure is at present available. Tumor microenvironment plays a pivo...

ea0049ep93 | Adrenal medulla | ECE2017

Role of microenvironment on proliferation and migration of an SDHB silenced murine Pheochromocytoma cell line

Martinelli Serena , D'Antongiovanni Vanessa , Richter Susan , Canu Letizia , Ercolino Tonino , Eisenhofer Graeme , Pacak Karel , Rapizzi Elena , Mannelli Massimo

Paragangliomas are rare neuroendocrine tumors derived from neural crest cells: if localized in the adrenal medulla they are called Pheocromocytomas (Pheo).The 30–40% of Pheo are mutated in one of the susceptibility genes among which there are genes encoding for the four subunits of the succinate dehydrogenase (SDH). Germ line mutations of SDHB are metastatic in about 80% of the cases. Surgery is the current therapy, but in presence of metastasis there is no effective trea...

ea0032p67 | Adrenal Medulla | ECE2013

Succinate dehydrogenase subunit B mutations modify human neuroblastoma cell metabolism and proliferation

Zampetti Benedetta , Rapizzi Elena , Ercolino Tonino , Fucci Rossella , Felici Roberta , Guasti Daniele , Giache Valentino , Bani Daniele , Chiarugi Alberto , Mannelli Massimo

Paragangliomas (PGLs) are rare neuroendocrine tumors. About 30–40% of these tumors are mutated in different susceptibility genes, including those encoding the different subunits of the succinate dehydrogenase, a complex involved both in the tricarboxylic acid cycle and in the oxygen transport chain. The aim of this project was to investigate whether SDHB mutations may account for alterations in cell metabolism and functions. Since PGL cell lines are not available, we used...

ea0014p117 | (1) | ECE2007

A novel activating germline mutation in the RET gene (Y606C) in a patient with medullary thyroid carcinoma

Luconi Michaela , Ercolino Tonino , Lombardi Adriana , Becherini Lucia , Piscitelli Elisabetta , Sole Gaglianò Maria , Serio Mario , Mannelli Massimo

Germline mutations in the RET gene cause MEN2, an inherited cancer syndrome associated with medullary thyroid carcinoma (MTC). We performed genetic analysis on DNA from whole blood of a 58 yr old female affected by a multifocal MTC. Exons 10, 11, 13, 15 and 16 of RET gene were amplified by PCR using specific primers and characterised by direct automatic sequencing. Here, we report a new RET point mutation: a heterozigous missense mutation Y606C, a G to A nucleotide substitutio...

ea0011p516 | Endocrine tumours and neoplasia | ECE2006

mRNA expression of somatostatin receptor subtypes in pheochromocytomas/paragangliomas

Mannelli M , Gelmini S , Malentacchi F , Simi L , Gaglianò MS , Ercolino T , Becherini L , Valeri A , Pratesi C , Orlando C

Somatostatin (sst) receptors are expressed in many tissues and multiple subtypes are often present in the same cells. Their activation by endogenous sst as well as by sst-analogues leads to inhibition of secretion and growth in some tumor, such as the neuroedocrine ones.Pheochromocytomas (Pheos) and paragangliomas (PGLs) are neural crest-derived tumors which can be sympathetic or parasympathetic in origin and present themselves as sporadic or familial. T...

ea0073pep11.1 | Presented ePosters 11: Adrenal and Cardiovascular Endocrinology | ECE2021

Fascin-1, a novel-circulating marker for the prognosis of the metastatic adrenocortical carcinoma

Cantini Giulia , Canu Letizia , De Filpo Giuseppina , Ercolino Tonino , Fei Laura , Nesi Gabriella , Maggi Mario , Mannelli Massimo , Luconi Michaela

Fascin-1(FSCN1) is an actin-bundling protein expressed in several solid carcinomas and often associated to an invasive and aggressive phenotype as it is involved in cytoskeleton rearrangement and filopodia formation. Adrenocortical carcinoma (ACC) is a rare endocrine malignancy characterized by a poor prognosis, particularly when metastatic at diagnosis. Complete surgical resection of the tumor mass is the main therapy for ACC patients in addition to the adjuvant administratio...

ea0049gp8 | Adrenal 1 | ECE2017

Clinical and translational relevance of circulating miR483 in adrenocortical cancer

Canu Letizia , Salvianti Francesca , Poli Giada , Armignacco Roberta , Cantini Giulia , Di Franco Alessandra , Gelmini Stefania , Ercolino Tonino , Terzolo Massimo , Nesi Gabriella , Pinzani Pamela , Mannelli Massimo , Luconi Michaela

Adrenocortical cancer (ACC) is a rare aggressive malignancy, with poor prognosis when metastaic at diagnosis. Recent ACC pan-genomics analysis contributed to redefine the risk groups on molecular bases, including tumor micro RNA (miR), which can be detectable not only in the primary lesion but also in the bloodstream.We develop a quantitative real-time assay for the measurement of absolute levels in plasma samples of miR483 and its mature miR483-5p form....