Searchable abstracts of presentations at key conferences in endocrinology

ea0026p4 | Adrenal cortex | ECE2011

Effects and kinetics of mitotane in in vitro and in vivo models of adrenocortical carcinoma

Luconi M , Poli G , Mangoni M , Pezzati P , Francalanci M , Gelmini S , Canu L , Cantini G , Serio M , Mannelli M

Adrenocortical carcinoma (ACC) is a rare aggressive tumor with a poor prognosis. At present, early diagnosis followed by total surgical tumor resection is the only valuable option for ACC cure and mitotane (MTT) is the only specific drug available for pharmacological treatment. However, its effects seem to be mainly due to its adrenocortical cytotoxicity and its bioavailability and cellular mechanism of action are still unknown, making it difficult to develop less toxic multid...

ea0029p782 | Endocrine tumours and neoplasia | ICEECE2012

Urinary steroid profiling demonstrates induction of CYP3A4 and inhibition of 5alpha-reductase by mitotane treatment for adrenocortical carcinoma

Taylor A. , Chortis V. , Schneider P. , Tomlinson J. , Hughes B. , Smith D. , Libe R. , Allolio B. , Bertagna X. , Bertherat J. , Beuschlein F. , Fassnacht M. , Mannelli M. , Mantero F. , Opocher G. , Porfiri E. , Quinkler M. , Terzolo M. , Shackelton C. , Stewart P. , Hanher S. , Arlt W.

Mitotane (o,p’DDD) is commonly used for the treatment of adrenocortical carcinoma (ACC), both for advanced disease and in the adjuvant setting. Mitotane induces adrenal insufficiency but specific effects on steroidogenic enzymes are unknown.We investigated 24-h urinary steroid metabolite excretion in ACC patients on adjuvant mitotane (AD) or mitotane for metastatic disease (MET). We compared samples collected before mitotane treatment (BEFORE; MET <...

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...

ea0029p457 | Clinical case reports - Thyroid/Others | ICEECE2012

Malignant, ectopic ACTH secreting occult neuroendocrine tumor: a case report

Mannelli M. , Lotti F. , Pupilli C. , Biagini C. , Piccini V. , Forti G.

Introduction: Occult neuroendocrine tumors are still a difficult diagnostic/therapeutic challenge.Case report: In November 2007, a 29-years-old Caucasian woman was admitted to our in-patients clinic with a 2-month history of rapidly progressing signs and symptoms of chronic hypercortisolism, including a bipolar disorder in psychosis. On admission the patient presented with hypokalemia (3.2 mEq/l), high levels of plasma (3164 nmol/l) and urinary free (26 ...

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...

ea0029p102 | Adrenal cortex | ICEECE2012

Proteomic approach to human adrenocortical cancer biology

Poli G. , Ceni E. , Michelucci E. , Canu L. , Piccini V. , Nesi G. , Cantini G. , Moneti G. , Galli A. , Mannelli M. , Luconi M.

Adrenocortical carcinoma (ACC) is a rare tumor with poor prognosis due to its highly malignant phenotype and lack of effective treatment options.The etiology of ACC is still unknown. To better understand the pathogenesis of this type of tumor and to determine differentially abundant proteins and candidate biomarkers for adrenal cancer diagnosis and prognosis, we used a novel approach based on two-dimensional differential gel electrophoresis (2D-DIGE). Pr...

ea0029p346 | Clinical case reports - Pituitary/Adrenal | ICEECE2012

ACTH-dependent Cushing’s syndrome secondary to an ectopic source of ACTH/CRH: three clinical cases with different prognosis and outcome

Fibbi B. , Maggioli C. , Vannucci L. , Giurgola E. , De Feo M. , Petrone L. , Parenti G. , Mannelli M. , Forti G. , Pupilli C.

Introduction: Ectopic ACTH-dependent Cushing’s syndrome (ACS) may present with different clinical pictures and it may represent a diagnostic challenge.Methods: We describe the clinical presentation and the laboratory, imaging and pathologic findings of three patients with ectopic ACS.Results: Case 1. A 31-year-old man with a 1-year history of spontaneous rib and vertebral fractures was admitted to our hospital for ACS evaluati...

ea0011oc38 | Neuroendocrinology and neoplasia | ECE2006

Germline mutations in patients with apparently sporadic pheochromocytomas/paragangliomas

Mannelli M , Gaglianò MS , Simi L , Ercolino T , Becherini L , Pinzani P , Sestini R , Bernini GP , Mascalchi M , Genuardi M

Paragangliomas (PGLs) and pheochromocytomas (PHEOs) are neural crest-derived tumors (NCD). PGLs can be localized in parasympathetic ganglia (in the head-neck region or in the anterior thorax) or in sympathetic ganglia (in the posterior thorax or in the abdomen). PHEOs can be considered PGLs arising in the adrenal gland.NCD tumors can present as sporadic or familial. The percentage of hereditary forms is supposed to be 25%. The susceptibility genes predis...

ea0011p515 | Endocrine tumours and neoplasia | ECE2006

Different scintigraphic patterns between sympathetic and parasympathetic paragangliomas

Gaglianò MS , Simi L , Ercolino T , Becherini L , Sestini R , Mascalchi M , Genuardi M , Briganti V , La Cava G , Olianti C , Mannelli M

Paragangliomas (PGLs) are neuroendocrine tumors arising from the neural crest and localized from the skull base to the pelvic floor. In particular, parasympathetic PGLs arise in the head/neck region (carotid body, vagal nerve, jugulare and tympanic glomus) and more rarely in the anterior thorax, while sympathetic PGLs are localized in the posterior thorax and in the abdomen and secrete catecholamines.Localization of paragangliomas might be performed by a...