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12th European Congress of Endocrinology

Poster Presentations

Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>)

ea0022p376 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Biochemical diagnosis strategy in pheochromocytoma

Stefanescu Ana-Maria , Schipor Sorina , Paun Diana-Loreta , Dumitrache Constantin , Badiu Corin-Virgil

Objective: The best biochemical strategy to follow in pheochromocytoma clinical diagnosis.Patients and methods: We selected two groups of patients: 24 pheochromocytomas (further diagnosed by CT): 20 women and 4 men aged 20–68 years and a normotensive group: 100 subjects without endocrine disfunction: 83 women and 17 men aged 19–70 years. In both groups we tested five parameters: plasma normetanephrines/metanephrines (NMNp/MNp); urine normetanep...

ea0022p377 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Carcinoid syndrome: biochemical diagnosis

Schipor Sorina , Stefanescu Ana-Maria , Paun Diana-Loreta , Dumitrache Constantin , Badiu Corin-Virgil

Objective: To introduce the best biochemical strategy for carcinoid syndrome diagnosis.Patients and methods: We selected two groups of patients: one group of 75 patients suspected of carcinoid syndrome: 57 women aged between 19 and 78 years and 18 men aged 17–81 years and a 80 healthy subjects group without endocrine disfunction: 56 women aged between 27 and 78 years and 24 men aged 17–81 years. We established median values for all parameters i...

ea0022p378 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Identification of a novel mutation of MEN1 gene in a patient with persisting primary hyperparathyroidism

Papanastasiou Labrini , Prevoli Anastasia , Pappa Theodora , Kamakari Smaragda , Kafritsa Paraskevi , Metaxa-Mariatou Vassiliki , Markou Athina , Piaditis George

Background: Multiple endocrine neoplasia type 1 (MEN1) syndrome is an autosomal dominant disorder characterized by the presence of endocrine and nonendocrine tumors. Until recently, more than 450 different germline mutations have been reported in MEN1 patients involving frameshift deletions, insertions, as well as nonsense mutations.Aim: To report a novel mutation in MEN1 gene in a young female with persisting primary hyperparathyroidism.<p class="ab...

ea0022p379 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

No secreting multiple glucagonoma: one case

Ory Jean Paul , Barbat Simona

Glucagonoma is an exceptional tumor but malignant in 80% of cases. Characteristic signs (migrating necrotic erythema, loss of weight) are connected with glucagon secretion, therefore variable. In this case report, the connection with pre-existent diabetes seems fortuitous.Case report: Mr L, 60 years old, sent in November 2007 for type 2 diabetes 15 years old, unbalanced (HbA1C: 13%), treated by metformin and sulfonylurea, neglected. There is a polyneurop...

ea0022p380 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

RET codon 618 mutations is the most frequent phenotype in Saudi families with multiple endocrine neoplasia type 2A

Nasser Tariq , Qari Faiza , Karawgh Abdullah , Al Aama Jumanah

Objective: To evaluate the prevalence of the RET mutation and the genotype–phenotype relation in Saudi patients (families) with multiple endocrine neoplasia type 2A (MEN2A) or familial medullary thyroid carcinoma (FMTC).Design: Cross-sectional study.Patients and methods: A total of ten unrelated Saudi families with germline mutation of the RET protooncogene and/or immunohistochemistry diagnosis of MTC were identified. B...

ea0022p381 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

CYP24A1 haplotypes are associated with differentiated thyroid carcinoma

Penna-Martinez Marissa , Ramos-Lopez Elizabeth , Stern Julienne , Kahles Heinrich , Hinsch Nora , Hansmann Martin-Leo , Selkinski Ivan , Grunwald Frank , Vorlander Christian , Wahl Robert A , Bechstein Wolf O , Zeuzem Stefan , Holzer Katharina , Badenhoop Klaus

Background: Previously, we reported an association of vitamin D receptor (VDR) polymorphisms and differentiated thyroid cancer (DTC) risk. The aim of the present study was to investigate other vitamin D pathway genes such as CYP27B1, CYP2R1 and CYP24A1 which code for enzymes that, respectively, synthesize and degrade 1,25(OH)2D3 in patients with DTC and healthy controls (HC). Also its influence on 25(OH)D3 and 1,25(OH)2D3 ...

ea0022p382 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Surgical treatment of insulinomas: a single-institution experience of 48 patients

Carrere Nicolas , Voronca Corneliu , Vezzosi Delphine , Danjoux Marie , Bennet Antoine , Julio Charles Henri , Bloom Eric , Selves Janick , Guimbaud Rosine , Otal Philippe , Buscail Louis , Pradere Bernard , Caron Philippe

In a monocentric study on 48 patients with insulinomas treated between 1988 and 2008, we evaluate the results of the radiological and surgical procedures, and determine prognostic factors regarding the recurrence risk. Clinical, radiological, and histopathological findings were analysed along with long-term follow-up after surgery. Kaplan–Meier analysis studies recurrence-free survival, and uni- and multi-variable analyses determine prognostic factors related to recurrenc...

ea0022p383 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Temozolomide treatment in aggressive pituitary tumors and pituitary carcinomas: a French multicenter experience

Raverot Gerald , Sturm Nathalie , De Fraipont Florence , Caron Philippe , Muller Marie , Cortet-Rudelli Christine , Salenave Sylvie , Assaker Richard , Dufour Henry , Gaillard Stephan , Francois Patrick , Jouanneau Emmanuel , Bernier Michele , Figarella-Branger Dominique , Maurage Claude-Alain , Trouillas Jacqueline , Borson-Chazot Francoise , Brue Thierry

Context: To date ten publications reporting only 16 patients with pituitary aggressive tumors or carcinomas treated with temozolomide are available. Expression of O6-methylguanine-DNA-methyltranferase (MGMT), a DNA repair protein implicated in the resistance to temozolomide, was studied in only 10 out of these 16 patients. It has been suggested that low expression of MGMT could predict temozolomide efficacy.Objective: The aim of this st...

ea0022p384 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Real-time PCR is useful to detect menin gene deletions

Zatelli Maria Chiara , Filieri Carlo , Tagliati Federico , Buratto Mattia , Calabro Veronica , Ambrosio Maria Rosaria , degli Uberti Ettore C

Familial pituitary adenoma is frequently associated with germinal mutations of several genes, including menin gene. MEN1 syndrome is an autosomic dominant disease, characterized by parathyroid adenomas, endocrine gastroenteropancreatic tumors, and pituitary adenomas, due to inactivating mutations of the MenI gene (11q13). MEN1 mutations are scattered within and around the menin open reading frame and are mainly represented by single nucleotide polymorphisms (SNPs), and ...

ea0022p385 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Role of piuitary tumour transforming gene 1 in medullary thyroid carcinoma

Zatelli Maria Chiara , Tagliati Federico , Buratto Mattia , Pelizzo Mariarosa , Pansini Giancarlo , Ambrosio Maria Rosaria , degli Uberti Ettore C

Pituitary tumour transforming gene 1 (PTTG1) is over-expressed in a variety of endocrine-related tumors. We investigated PTTG1 expression in human C-cell hyperplasia (CCH), human medullary thyroid carcinoma (MTC) and in the human MTC cell line, TT. PTTG1 expression was significantly higher (P<0.01) in CCH (threefold), in papillary thyroid cancer and in MTC (fivefold) than in normal thyroid, and in MTC lymph-node metastases as compared to primary lesions (approximate...

ea0022p386 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Everolimus reduces human ACTH-secreting pituitary adenoma in vitro cell viability

Zatelli Maria Chiara , Minoia Mariella , Filieri Carlo , Tagliati Federico , Mole Daniela , Scanarini Massimo , Ambrosio Maria Rosaria , degli Uberti Ettore

Everolimus (RAD001), an immunosuppressant drug, has antineoplastic activity in human neoplasia, including endocrine tumors, due to its ability to inhibit the AKT down-stream signaling pathway. It has been demonstrated that AKT is overexpressed and up-regulated in pituitary tumor, including ACTH-producing pituitary tumors, that are still orphan of an effective medical therapy. We therefore investigated the effects of RAD001 on cell viability, apoptosis and mTOR phosphorilation ...

ea0022p387 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

GH influences breast cancer chemoresistanec independently of cell cycle perturbations

Minoia Mariella , Filieri Carlo , Tagliati Federico , Mole Daniela , Leoni Stefania , Ambrosio Maria Rosaria , degli Uberti Ettore C , Zatelli Maria Chiara

GH and insulin-like growth factor 1 (IGF1) are known to promote breast carcinogenesis. Even if breast cancer (BC) incidence in not increased in female acromegalic patients, mortality is greater as compared to general population. In order to evaluate whether GH/IGF1 excess might influence BC response to therapy, accounting for the increased mortality, we evaluated the effects of GH and IGF1 on cell proliferation of a BC cell line, the MCF7 cells, in the presence of doxorubicine...

ea0022p388 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Human presentation of MEN X syndrome

Maere Caroline , Pellegata Natalia , Praet Marleen , Giri Mimi , T'Sjoen Guy

Different multiple endocrine neoplasia (MEN) syndromes have been described in humans. These conditions are characterised by different combinations of multiple endocrine tumors based on specific genetic mutations, mainly the MEN1 gene (MEN type 1 syndrome) or in the RET proto-oncogene (MEN type 2). A syndrome encompassing components of both MEN type 1 and type 2, but which is caused by a mutation in the Cdkn1b gene encoding p27, has been described in rats, the so-called MEN X s...

ea0022p389 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

The diagnostic value of PTH concentration in the needle washout after fine-needle biopsy of suspicious cervical foci in patients with hyperparathyroidism

Mikosinski Slawomir , Jarek Piotr , Makarewicz Jacek , Sporny Stanislaw , Pomorski Lech

Background: Successful parathyroidectomy depends on recognition and excision of all hyperfunctioning parathyroid glands.The aim of the study was to estimate the diagnostic value of PTH concentration in the needle washout after fine-needle aspiration of foci suggestive of enlarged parathyroids in patients (pts) with hyperparathyroidism (HP).Material and methods: Of 18 pts were studied (15 females, 3 males); 16 pts with primary HP (t...

ea0022p390 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Sex hormone-binding globulin (SHBG) gene pentanucleotide TAAAA repeat and D327N polymorphism in breast cancer: link to estrogen sensitivity

Piccioni Claudia , Catalano Maria Graziella , Boccuzzi Giuseppe , Fortunati Nicoletta

Sex hormone-binding globulin (SHBG) is characterized by the unique ability of regulating estrogen free fraction and cross-talking with estradiol pathways in breast cancer cells, therefore reducing breast cancer cell growth and proliferation. In addition, the presence of the D327N (Asp327Asn, rs6259) single nucleotide polymorphism (SNP) of SHBG exon 8 confers a protective role to SHBG in breast cancer. Another polymorphism that has been receiving quite a lot of at...

ea0022p391 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Anti-tumor activity of the tumor-vascular-disrupting agent ASA404 (vadimezan) in endocrine tumor models

Hantel Constanze , Franzev Roman , Ozimek Alexandra , Mussack Thomas , Beuschlein Felix

Vascular disrupting agents (VDAs) differ from angiogenesis inhibitors by attacking established tumor blood vessels rather than preventing growth of new ones. We investigated effects of the tumor-VDA ASA404 against neuroendocrine tumors of the gastroenteropancreatic system (GEP-NETs) and adrenocortical carcinoma (ACC) 24 h after treatment of BON and NCIh295 tumor bearing mice with ASA404 (A), paclitaxel (P) or the combined administration (A+P). A significant decrease in cell pr...

ea0022p392 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Primary hyperparathyroidism and hyperuricaemia and bone turnover

Broulik Petr

As the major end product of purine metabolism urate is produced by most adults at the rate of 700 mg/day. Although a small proportion of the urate pool may by derived from the diet the greatest amount results from tissue breakdown. Both hyperuricaemia and gout occur with increased frequency in hyperparathyroidism (PHPT). PHPT is associated with a high bone turnover and increased turnover of nucleic acid of cellular origin. Urate metabolism was studied in 106 patients with PHPT...

ea0022p393 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Bilateral giant myelolipoma of adrenal glands: a case report and review of the literature

Sulentic Petra , Vrkljan Milan

Adrenal myelolipoma is rare benign tumor composed of mature adipose cells and hematopoietic elements. Their mostly small size (<5 cm), unilateral site, and clinical quiescence is accountable for predominantly incidental disclosure. We report a case of 54-year-old man complaining of gradually aggravating pain in right hemiabdomen in whom abdominal CT revealed bilateral and giant adrenal masses composed of predominately adipose tissue with interspersed areas of solid parts d...

ea0022p394 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

A case of septo-optical dysplasia: are late complications inevitable in spite of early diagnosis and regular follow-up?

Sulentic Petra , Vrkljan Milan

Septo-optic dysplasia (SOD), previously termed De Morsier’s syndrome, is a rare developmental disorder of midline brain structures characterized by optic nerve hypoplasia (ONH), midline neuroradiological abnormalities, and pituitary–hypothalamic dysfunction such as GH deficiency. The phenotype is highly variable and the clinical presentation may be mild or extremely severe. It is an infrequent disease and its causation is most presumably multifactorial, involving env...

ea0022p395 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Rare metastases localization in medullary thyroid carcinoma (MTC)

Lecomte Pierre , Guyetant Serge , Pierre Peggy , Murat Arnaud , Sagan Christine , Dravet Francois , Benchellal Ziev , de Calan Loic

Usual metastatic localizations in MTC are liver, bone and lung. We report two cases with metastases in pancreas and breast.In a 51-year-old woman were discovered several nodules in the thyroid gland: 29×19 mm in the right lobe and 5 mm in the left. Calcitonine (CT) levels were 2300 and ECA 44 ng/ml. Fine-needle aspiration of the main nodule confirmed MTC. Total thyroidectomy and right jugulo carotidal lymph node dissection were performed in 1998 wit...

ea0022p396 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Outcome of two chemotherapies in the treatment of progressive, undifferentiated neuroendocrine carcinomas: a single-center experience

Deutschbein Timo , Unger Nicole , Yuece Ali , Lahner Harald , Mann Klaus , Petersenn Stephan

Introduction: Treatment of poorly differentiated neuroendocrine tumors (NET) usually includes chemotherapeutic intervention. However, both the rarity and the heterogeneity of the disease have led to relatively few clinical trials. This study evaluated the outcome of two chemotherapy regimens in patients suffering from undifferentiated and histologically confirmed NET.Methods: Eighteen patients (11 males; age 56.7±2.5) with proven progressive disease...

ea0022p397 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Incidence, clinical presentation and outcome of differentiated thyroid cancer in young patients aged 10--24 years living in the French Rhone-Alpes region

Sassolas Genevieve , Nejjari Zakia , Berger Nicole , Berger Claire , Bournaud Claire , Peix Jean-Louis , Borson-Chazot Francoise

Differentiated thyroid cancer is rare in children and adolescents. An aggressive clinical presentation, together with a high rate of recurrences contrasting with low mortality, has been reported, especially, before the age of 15 years. Data are mainly issued from historical series from hospital databases.The aim of the study was to analyze, from a population-based registry, the clinical presentation and outcome of differentiated thyroid cancer in young s...

ea0022p398 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Clinical, hormonal and molecular differences in pituitary ACTH adenomas without (silent corticotroph adenomas) or with Cushing's disease

Raverot Gerald , Wierinckx Anne , Jouanneau Emmanuel , Borson-Chazot Francoise , Lachuer Joel , Pugeat Michel , Trouillas Jacqueline

Objective: Silent corticotroph adenomas (SCA) are rare pituitary tumours immunoreactive for ACTH but without clinical evidence of Cushing’s disease. They have been compared to non functioning pituitary adenomas or ACTH adenomas with Cushing’s disease, but no distinction has been made between micro and macro ACTH-adenomas. We characterize SCA on clinical, hormonal and molecular data and compared the characteristic of these tumours with those of macro (MCA) and micro A...

ea0022p399 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Six members of a family with multiple endocrine neoplasia type 2A

Siderova Mira , Boyadzhieva Mila , Hristozov Kiril , Angelova Ljudmila , Krasnaliev Ivan , Ivanov Krasimir , Radev Radoslav , Nenkov Rumen

We report three generations of a family with MEN-2 A characterized by autosomal dominant inheritance and virtually 100% penetrance.The proband, 35-year-old man, was diagnosed and operated for pheochromocytoma of the right adrenal gland and medullary thyroid carcinoma (MTC) with lymph node metastasis in 2009. His mother turned out to be operated for bilateral pheochromocytoma at the age of 47 (in 1994) and had had a thyroid nodule. She died at the age of ...

ea0022p400 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Hepatic transplant and use of radionuclides as adyuvant therapies for patients with metastasic disease from neuroendocrine tumors

Del Olmo Maria Isabel , Argente Maria , Ramos Agustin , Camara Rosa , Navas Maria Soledad , Campos Vicente , Moya Angel , Merino-Torres Juan Francisco

Aim: Patients with malignant neuroendocrine tumors (mNETs) present frequently metastatic disease at diagnosis or during their follow-up. Hepatic transplant (HT) and radionuclide treatment have proved to be successful treatments. The aim of this report is to study the progression of the disease in patients with metastasic mNETs and HT.Patients and methods: Descriptive and retrospective study of patients diagnosed of metastasic mNETs and submitted to HT du...

ea0022p401 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Down-regulation of estrogen receptor-β associates with transcriptional coregulator PATZ1 delocalization in human testicular seminomas

Esposito Francesco , Franco Renato , Fedele Monica , Fusco Alfredo , Chieffi Paolo , Bosica Francesca

PATZ1 is a recently discovered zinc finger protein that, due to the presence of the POZ domain, acts as a transcriptional repressor affecting the basal activity of different promoters, and associates with a variety of transcription factors (i.e. RNF4, HMGA1, gscl, SPBP). We have previously described, by using mice lacking the PATZ1 gene, its crucial role in spermatogenesis. Consistently, PATZ1-KO mice are unfertile and testes from these mice showed only few spermatocyte...

ea0022p402 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

High prevalence of dopamine excess in patients with head and neck paragangliomas

Horst-Schrivers Anouk van der , Osinga Thamara , Kema Ido , Dullaart Robin

Objective: We determined the prevalence of abnormal secretion of dopamine and other catecholamines in relation to clinical symptoms in patients with head and neck paragangliomas (PGL). The association of catecholamine production with nuclear imaging was also assessed.Methods: Thirty-six consecutive patients with head and neck PGLs, who were referred for follow-up and/or treatment between 1993 and 2009, were included. Clinical symptoms, dopamine excess (u...

ea0022p403 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Pheochromocytoma: seconds from disaster

Jercalau Simona Verzea , Dobrescu Ruxandra , Stefanescu Ana Maria , Beuran Mircea , Badiu Corin

A 50–year-old female with a 2 year-history of hypertension and diabetes was admitted to a county hospital, where treatment with clonidine and beta-blockers was started, without success. Abdominal CT showed a large left adrenal tumour, and her initial blood pressure (BP) was over 300/170 mmHg, which dropped to 80/30 mmHg. She was transferred for evaluation of a possible pheochromocytoma (PHEO). At admission her BP was 260/160 mmHg, heart rate (HR) 120 bpm, with anxiety, di...

ea0022p404 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Ectopic insulin secretion from distant metastasis or ectopic metaplasia after total pancreatectomy for ACTH-secreting endocrine pancreatic tumor revealing a Von Hippel Lindau disease

Vantyghem Marie-Christine , Wild Damian , Neraud Barbara , Nghi-Beron Amandine , Raverdy Violeta , Steinling Marc , Wemeau Jean-Louis , Pattou Francois

Von Hippel Lindau disease (VHL) induces tumors of kidneys, central nervous system, pancreas and paragangliomas We report one case where ectopic Cushing syndrome revealed VHL. A 19-year old was referred for hirsutism and spaniomenorrhea revealing an ACTH-dependent Cushing syndrome. Mineralocorticoids, calcium metabolism, chromogranine A, calcitonine, pancreatic hormones and urinary 5-HIA were normal. Blood nor- and metanephrine were 5.12 μg/l (n<5) and 0.92 &#95...

ea0022p405 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Cinacalcet hydrochloride effectively controlled primary hyperparathyroidism in patients unresponsive to bisphosphonates

Faggiano Antongiulio , Somma Carolina Di , Milone Francesco , Ramundo Valeria , Rota Francesca , Vuolo Laura , Guerra Ermelinda , Colao Annamaria

Context: Until now the role of medical therapy in patients with primary hyperparathyroidism (PHP) was mainly based on the use of bisphosphonates. Recently, cinacalcet hydrochloride was reported to be effective in control hypercalcemia in PHP. The aim of this study was to evaluate the efficacy of cinacalcet in PHP patients who were not effectively controlled with alendronate.Patients and methods: Fourteen PHP patients (mean age 64.1±2.6) were include...

ea0022p406 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Clinical and prognostic implications of the genetic diagnosis of hereditary NET syndromes in asymptomatic patients

Faggiano Antongiulio , Ramundo Valeria , Milone Francesco , Severino Rosa , Lombardi Gaetano , Colao Annamaria

Context: Neuroendocrine tumors (NETs) are rare neoplasms, heterogeneous, with variable biological behaviour. NETs can be sporadic or they can arise in complex endocrine hereditary syndromes such as Multiple Endocrine Neoplasias (MEN), Familial Paragangliomatosis (FPGL), Neurofibromatosis type 1 (NF1), von Hippel-Lindau Disease (VHL), Tuberous Sclerosis (TSC) and Carney Complex (CC). By performing genetic screening, patients with hereditary NETs can be identified before the dev...

ea0022p407 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Expression of Ki-67, RET and p53 in papillary thyroid microcarcinomas with or without autoimmune thyroid diseases

Szanto Zsuzsanna , Kun Imre Zoltan , Gurzu Simona , Jung Janos , Borda Angela

Our objective was to investigate the expression of Ki-67, RET and p53 in papillary thyroid micro–carcinomas (PTMCs) with or without autoimmune thyroid diseases. We included in the study 36 patients thyroidectomized between 2002 2007 for benign or malignant thyroid lesions, registered at Endocrinology Clinic and/or Institute of Pathology Targu Mureş, at whom the histology diagnosed PTMC. This cohort was divided into two groups: 19 PTMCs only and 17 PTMCs associated wi...

ea0022p408 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Familial acromegaly

Chronaiou Aikaterini , Kostoglou-Athanassiou Ifigenia , Stefanopoulos Dimitris , Xanthakou Eleni , Badila Razvan Alexandros , Klonaris Nicolaos , Karfi Areti , Tzioras Konstantinos

Acromegaly is a disease characterized by the presence of a pituitary ademona which secretes excessive amounts of growth hormone. The presence of an adenoma causing acromegaly in the context of multiple endocrine neoplasia syndromes has been described. However, the presence of solitary pituitary adenomas causing acromegaly in siblings is extremely rare.Aim: The aim was to describe acromegaly in 2 siblings.A male patient, aged 56 yea...

ea0022p409 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Paraganglioma in a patient with atrophic gastritis

Michou Aikaterini , Kostoglou-Athanassiou Ifigenia , Chronaiou Aikaterini , Stefanopoulos Dimitris , Alexandros Badila Razvan , Loi Vassiliki , Karaliotas Konstantinos , Karfi Areti

Gastric neuroendocrine neoplasms are rare. They are classified clinically in types 1 to 3. Gastric neuroendocrine neoplasms type 1 are observed in chronic atrophic gastritis as single or multiple small tumors. Their prognosis is excellent. Gastric neuroendocrine neoplasms type 2 are part of MEN 1 syndrome.The aim is to describe the case of a patient with a gastric neuroendocrine neoplasm which was observed in a background of atrophic gastritis and an ect...

ea0022p410 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Evaluation of respiratory function in acromegalic patient

Serap Yalin Ayse , Sancak Seda , Temizkan Sule , Gunes Mutlu , Deyneli Oguzhan , Yavuz Dilek , Karakurt Sait , Sema Akalin Nefise

Acromegaly alters elasticity, structure and function of the respiratory system and respiratory disorders constitute 25% of all deaths recorded in acromegalic patients. Respiratory mortality is three fold higher than in normal subjects. However, respiratory dysfunction in acromegaly has seldom been investigated.We aimed to evaluate the extent of pulmonary dysfunction in acromegalic patients with respiratory function tests (RFT). Sixty one acromegalic pati...

ea0022p411 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Single hospital experience of carcinoid tumours of colon and rectum

Rao Rohith Gopala , Banks Melissa , Poston Graeme , Arthur James

Background: Carcinoid tumours of colon and rectum (CTCR) are a rare entity. A review of a tertiary referral units experience is presented.Aim: Reviewing our experience of CTCR with emphasis on tumour site, disease stage, treatment and long term outcome.Method: Retrospective analysis of our endocrine tumour database was performed. All patients diagnosed with CTCR between 2000 and 2009 were included.Findings: T...

ea0022p412 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Long-term outcome of 65 patients with metastatic differentiated thyroid carcinoma

Dieguez Marta , Menendez Edelmiro , Sanchez Cecilia , Aller Javier , Boix Pedro , Delgado Elias , Lavilla Antonio , Pertierra Joaquin , Rabal Antonio

Aim: To assess survival rate and prognosis factors in a group of 65 patients with distant metastases from differentiated thyroid carcinoma.Methods: Patients with metastatic differentiated thyroid carcinoma (MDTC) were retrospectively identified from the database of a single institution (1975–2008). Disease-specific survival (DSS) was analyzed by the Kaplan-Meier method.Results: A total of 65 patients with MDTC were identified....

ea0022p413 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Von Hippel-Lindau disease: a case report

Gouveia Sofia , Ribeiro Cristina , Paiva Sandra , Joao Bugalho Maria , Santos Jacinta , Vieira Alexandra , Alves Marcia , Carvalheiro Manuela

Introduction: Von Hippel-Lindau disease (VHLD) is a rare autosomal-dominant syndrome, characterized by the development of multiple cysts and tumours, namely retinal and central nervous system hemangioblastomas, renal cell carcinoma (RCC), phaeochromocytoma, pancreatic endocrine tumours (PET) and endolymphatic sac tumours.Most germinal mutations are missense, related to a high risk for presenting phaechromocytoma (specially if Arg167Trp mutation im...

ea0022p414 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Natural history and clinical features of metastatic differentiated thyroid carcinoma

Dieguez Marta , Menendez Edelmiro , Sanchez Cecilia , Aller Javier , Delgado Elias , Boix Pedro , Lavilla Antonio , Pertierra Joaquin , Rabal Antonio

Aim: To analyze clinical features in a group of 65 patients with differentiated thyroid carcinoma and distant metastases.Methods: Retrospective review of 65 patients with Metastatic Differentiated Thyroid Carcinoma (MDTC) identified from the database of a tertiary hospital between 1975 and 2008.Results: Sixty five patients were identified (21 males, 44 females) with a mean age of 58,9 years. The median follow-up after discovery of ...

ea0022p415 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Atypical bronchopulmonary carcinoid tumor metastatic to endocrine glands and bone marrow

Daraki Vasiliki , Stamou Konstantina , Mamalaki Evangelia , Kalikakis George , Papavasiliou Stathis

Bronchopulmonary neuroendocrine tumors (BP-NETs) comprise 20% of all lung cancers. Typical low grade carcinoid tumors (TC) represent the majority of BP-carcinoids. Intermediate grade atypical carcinoid tumors (AC) are less often encountered but more aggressive. Although metastatic dissemination to mediastinal lymph nodes as well as liver, skeleton, central nervous system, skin and mammary glands is well known, the involvement of endocrine glands is really rare.<p class="ab...

ea0022p416 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Prognostic markers of survival after combined mitotane- and platinum-based chemotherapy in metastatic adrenocortical carcinoma characterized for plasma mitotane level and ERCC1 protein expression analyses

Malandrino Pasqualino , Ghuzlan Abir Al , Castaing Marine , Young Jacques , Caillou Bernard , Travagli Jean-Paul , Elias Dominique , de Baere Thierry , Dromain Clarisse , Chanson Philippe , Schlumberger Martin , Leboulleux Sophie , Baudin Eric

Introduction: Mitotane and platinum-based chemotherapy are the main therapeutic choices for treating inoperable and/or metastatic adrenocortical carcinoma (ACC).Objective: To search for prognostic parameters of survival in patients with metastatic ACC treated with combined mitotane- and platinum-based chemotherapy.Patients: One hundred and thirty one consecutive patients with metastatic ACC treated at the Gustave-Roussy Institute (...

ea0022p417 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Rapid activation of cPLA2 induced by oestrogen in ER-positive and ER-negative breast cancer cell lines

Caiazza Francesco , Harvey Brian , Thomas Warren

Cytosolic phospholipase A2 (cPLA2α) catalyzes the hydrolysis of membrane glycerophospholipids to release arachidonic acid, which is converted to bio-active eicosanoid lipid mediators, including prostaglandins (like PGE2) produced through cyclo-oxygenases (COX). The eicosanoid signalling contributes to cell proliferation in breast cancer, as demonstrated by numerous studies outlining a crucial role of COX-2 and PGE2 in breast carcinoma progression. The specific ...

ea0022p418 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Adrenocortical carcinoma: is the surgical approach a risk factor of peritoneal carcinomatosis?

Leboulleux Sophie , Deandreis Desiree , Ghuzlan Abir Al , Auperin Anne , Dromain Clarisse , Young Jacques , Schlumberger Martin , Baudin Eric

Context: Peritoneal carcinomatosis (PC) is a rare site of distant metastasis in patients with adrenocortical cancer (ACC). One preliminary study suggests an increase risk of PC after adrenalectomy through laparoscopic approach of ACC.Objective: The objective of the study was to search for risk factors of PC including surgical approach. This was a retrospective cohort study conducted in an institutional practice.Patients: Sixty-four...

ea0022p419 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Erythropoietin levels in endocrinopathies

Klein Emilie , Brossaud Julie , Gatta Blandine , Corcuff Jean-Benoit

Erythropoietin (EPO) is an oxygen-regulated hormone promoting the differentiation of erythroid progenitor cells. Apart from hypoxia, few data is available about EPO release by secretagogues including hormones. This retrospective study evaluated serum EPO concentrations in serum leftovers from subjects routinely investigated with various endocrine disorders displaying: peripheral hypothyroidism or hyperthyroidism, acromegaly, endogenous Cushing’s syndrome or non secreting ...

ea0022p420 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Prolactinoma registry- usefulness of a web tool

Gavan Vadim , Taslitchi Cristian , Dobrescu Ruxandra , Badiu Corin

Prolactinoma registry is part of the Romanian national Registry of Endocrine Tumors system (www.renate.ro), which allows the collection and provides epidemiological data concerning the prevalence of age and sex distribution, therapy and its basic results. The centers involved are the medical universities and expertise centers in Romania, centers in which exist enough experience and resources to diagnose, treat and monitor the evolution of the...

ea0022p421 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Thyroid Incidentaloma identified by 18F-Fluorodeoxyglucose Positron Emission Tomography with CT (FDG-PET/CT): clinical relevance

Pagano Loredana , Sama MariaTeresa , Rudoni Marco , Belcastro Sara , Busti Arianna , Caputo Marina , Inglese Eugenio , Aimaretti Gianluca

Thyroid incidentalomas was defined as newly identified thyroid lesions encountered during imaging study for non-thyroid diseases. In the last years, the use of FDG-PET/CT for staging of metastatic diseases was increased. The aim of this retrospective study was to evaluate the FDG-PET/CT uptake, to identify a SUVmax cut off predictive of malignancy and to determine the FDG-PET/CT prognostic role in patients with thyroid incidentalomas. 42 patients (ptx) with incidental thyroid ...

ea0022p422 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Juvenile hypertension due to coexistence of two very rare etiologies

Paragliola Rosa Maria , Ianni Francesca , Ricciato Maria Pia , Rosa Annapina De , Gallo Francesca , Locantore Pietro , Senes Paola , Rota Carlo Antonio , Pontecorvi Alfredo , Corsello Salvatore Maria

The coexistence of pheochromocytoma and hyperreninemia secondary to renal artery stenosis, which both represent important causes of juvenile hypertension, has been reported in Literature, while association between pheochromocytoma and reninoma has never been described.We evaluated a 24-year-old boy, which came to our attention for severe hypertension, unresponsive to anti-hypertensive polytherapy. In 1996, because of elevated calcitonin levels (180 pg/ml...

ea0022p423 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Reversible heart failure after sorafenib administration in advanced metastatic differentiated thyroid carcinoma (DTC)

Giusti Massimo , Derchi Maria , Mortara Lorenzo , Canepa Mario , Cecoli Francesca , Minuto Francesco , Spallarossa Paolo

Sorafenib (S) is a reasonably well-tolerated therapy in DTC. A large number of side-effects have been reported. We report our data on the effectiveness and tolerability of S in 6 patients with advanced metastatic epithelial (2 follicular, 1 papillary, 1 insular) and medullary DTCs (52–79 years). In all patients, heart function was evaluated before and during S administration (400 mg/day) together with the objective response rate and changes in serum markers. Underlying he...

ea0022p424 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Serum concentration of o,p’DDD (mitotane), o,p’DDA and o,p’DDE as predictors of tumour response in adrenocortical carcinoma: results of a retrospective European Network for the Study of Adrenal Tumors (ENS@T) multicentre study

Hermsen Ilse , Fassnacht Martin , Terzolo Massimo , Houterman Saskia , Hartigh Jan den , Leboulleux Sophie , Daffara Fulvia , Allolio Bruno , Berruti Alfredo , Chadarevian Rita , Haak Harm , Baudin Eric

Introduction: O,p’DDD is the drug of choice for patients with adrenocortical carcinoma (ACC). Monitoring o,p’DDD serum level has been proposed as predictor of tumour response. Measurement of o,p’DDD metabolites involved in the active pathway may provide an improved prediction of o,p’DDD activity. The objective of our study was to (1)to confirm the currently used threshold o,p’DDD serum level of 14mg/l for achieving a tumour response and (2)compare the ...

ea0022p425 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Clinical features and outcome of sporadic medullary thyroid carcinoma

Sanchez Sobrino Paula , Paramo Fernandez Concepcion , Gil Beatriz Mantinan , Perez Pedrosa Alberto , Palmeiro Carballeiro Regina , Seoane Cruz Ines , Garcia-Mayor Ricardo V

Introduction: Medullary thyroid carcinoma (MTC) is a neuroendocrine tumour that arises from c cells of the thyroid gland and accounts for less than 8% of thyroid neoplasms. Some are familiar (MEN 2 syndrome) but most are sporadic. Genetic tests have improved the outcome in hereditary forms, but survival in sporadic MTC has not increased in last years. In most patients with sporadic MTC the disease has already metastasized at the time of diagnosis.Objecti...

ea0022p426 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Adrenocortical carcinoma (ACC): our experience

Di Dalmazi Guido , Ripani Raffaella , Casadio Elena , Vicennati Valentina , Pagotto Uberto , Pasquali Renato

Aim: ACC is an extremely rare heterogeneous aggressive disease. Clinical presentation are various. The prognosis is very poor. There are limited data to define prognostic markers for survival beyond stage.The aim of this study is to describe the experience of our institution with patients affected by ACC.Material and methods: This study was performed on 13 patients aged between 26 and 76 years, from 1992 to 2009 who turned to our I...

ea0022p427 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Polymorphisms in RET gene are associated with RET/PTC rearrangements in papillary thyroid carcinoma (PTC)

Sykorova Vlasta , Vaclavikova Eliska , Dvorakova Sarka , Ryska Ales , Kodetova Daniela , Vlcek Petr , Bendlova Bela

RET proto-oncogene is activated in the development of PTC via RET/PTC rearrangements. Single nucleotide polymorphisms (SNPs) of the gene are associated with PTC in some studies. We investigated possible association of SNPs with RET/PTC in Czech patients. We analyzed 234 patients with PTC (101 fresh frozen thyroid samples, 133 paraffin-embedded formalin-fixed samples) and 172 controls. RNA from frozen samples was reversely transcribed to cDNA. RET/PTC</i...

ea0022p428 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Malignant paraganglioma – the story of a long time survival

Balcan Roxana , Iliescu Dan , Stefanescu Cipriana , Popa Radu , Vasiliu Ioana , Idriceanu Jeanina , Zbranca Eusebie , Vulpoi Carmen

Introduction: Pheochromocytoma and paraganglioma are catecholamine secreting tumours. Malignancy is uncommon (approximately 10% for pheochromocytoma and 20% for paraganglioma) and surgery, when possible, is the first line treatment. However, the prognosis is poor because of frequent local recurrence and/or metastases and the lack of specific chemotherapeutic agents. CASE-REPORT: We present the case of a 60 years-old man who, at the age of 48, was diagnosed with paraganglioma. ...

ea0022p429 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Ectopic Cushing’s syndrome caused by a well differentiated ACTH-secreting neuroendocrine carcinoma of the ileum

Singer Joerg , Koch Christian A , Bartels Michael , Aigner Thomas , Lincke Thomas , Fasshauer Mathias , Paschke Ralf

Cushing’s syndrome can be caused by adrenocorticotropic hormone-secreting solid tumors. We report a rare case of an ileal endocrine carcinoma that produced ACTH and induced hypercortisolism. A now 47-year-old male patient presented at the age of 41 with perspiration, weight gain, tremor and general fatigue. Diabetes mellitus and hypercortisolism was diagnosed by laboratory testing. Further examinations revealed ectopic Cushing’s syndrome. The search for the location ...

ea0022p430 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Intronic polymorphism IVS14-24G/A of the RET proto-oncogene seems to be protective for sporadic medullary thyroid carcinoma development

Vaclavikova Eliska , Sykorova Vlasta , Dvorakova Sarka , Vlcek Petr , Bendlova Bela

Background and aims: Medullary thyroid carcinoma (MTC) occurs as a sporadic or less commonly as an inherited form which comprises multiple endocrine neoplasia (MEN) type 2A and 2B and familial MTC. Whereas over 95% of patients with MEN2 syndrome have a germline missense mutation in the RET proto-oncogene, the detection rate of germline mutations in FMTC patients is lower as well as the detection rate of somatic mutations in sporadic MTC tumor tissues. In this context, s...

ea0022p431 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

The Role of miRNA in reduction of type I 5’-iodothyronine deiodinase expression (D1) in renal clear cell carcinoma (ccRCC)

Boguslawska Joanna , Master Adam , Wojcicka Anna , Poplawski Piotr , Piekielko-Witkowska Agnieszka , Nauman Alicja

Type 1 deiodinase (D1) catalyses deiodination of tyroxine (T4), which leads either to synthesis of triiodothyronine or reverse triiodothyronine (rT3). Triiodothyronine (T3) regulates the expression of many tumour suppressor genes and oncogenes. We previously revealed that the expression of the whole pool of D1 transcripts was dramatically lowered in ccRCC tissues. One of the mechanism resulting in this aberration could be miRNA-mediated repress...

ea0022p432 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Unexplained hypoxemia in a patient with carcinoid syndrome

Pauline Presumey , Catherine Longuet , Claire Dauphin , Francoise Desbiez , Salwan Maqdasy , Laurene Charra , Marie Batisse , Igor Tauveron

Introduction: The carcinoid heart disease is an uncommon valvular heart disease that may occur in carcinoid syndrome.Valvulopathy is reported in 50% to 70% of patients of carcinoid syndrome, due to the release of serotonin secreted by metastatic cells in the liver, reaching directly right side of heart. The left side is preserved because of inactivation of serotonin by lung parenchyma. Hypoxemia is an unusual presentation of the carcinoid heart disease.C...

ea0022p433 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Pituitary adenoma mimicking a psychiatric disorder – a case report

Mesquita Joana , Joao Matos Maria , Varela Ana , Vinha Eduardo , Braga Daniel , Guerra Fernanda , Pereira Josue , Ayres Bastos Margarida , Castro Ligia , Carvalho Davide , Luis Medina Jose

Introduction: People with intracranial organic lesions, including pituitary tumours, may manifest initially as a psychiatric disorder, such as depression, emotional disturbance, anxiety, apathy, neurobehavioral disturbance, cognitive dysfunction and personality disturbance.Case Report: A male patient 45 years old was sent to the Department of Endocrinology of São João Hospital due to a pituitary macroadenoma. The patient referred asthenia, musc...

ea0022p434 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Identification of hyperfunctioning parathyroids (HP) in primary hyperparathyroidism (pHPT) in the presence of concomitant thyroid diseases

Boi Francesco , Chiara Cocco Maria , Lombardo Cira , Maurelli Ivan , Piga Mario , Letizia Lai Maria , Nicolosi Angelo , Mariotti Stefano

Purpose: To characterize the interference of concomitant thyroid diseases in the localization of HP in pHPT and develop a valuable diagnostic strategy.Subjects and methods: Forty pHPT patients were selected for the presence of coexistent thyroid nodules (TN) or Hashimoto’s thyroiditis (HT). Neck ultrasound (US) and sesta-MIBI scintigraphy (MIBI) were performed in all cases. US and MIBI were concordant in 16 cases (group I) while in the remaining 24 ...

ea0022p435 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Molecular analysis of tumor tissue enabled selection of a successful combined therapy of somatostatin and dopamine agonists in a case of TSH-secreting pituitary adenoma

Quintero Ana , Galvez-Moreno M Angeles , Jimenez-Reina Luis , Martinez-Fuentes Antonio J , Benito-Lopez Pedro , Castano Justo P

TSH-secreting pituitary adenomas (thyrotropinomas or TSH-omas) are rare. At diagnosis, TSH-omas are frequently macroadenomas presenting with variable symptoms, and signs of hyperthyroidism. Somatostatin analogs (SSA) are a very efficient treatment to improve clinical signs in patients with TSH-omas, reducing hormone levels (90%) and causing tumor shrinkage (50%).Inhibitory effects of SSA are mediated by a family of five somatostatin receptor subtypes (sst1-5), with sst2 and ss...

ea0022p436 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Aryl hydrocarbon receptor- interacting protein: mutational analysis and functional validation in primary pituitary cell cultures

Formosa Robert , Farrugia Cecilia , Xuereb-Anastasi Angela , Korbonits Marta , Vassallo Josanne

Recently the Aryl hydrocarbon receptor – interacting protein (AIP) gene attracted attention as a novel gene linked to familial cases of acromegaly. In Malta the predicted prevalence of pituitary adenomas is particularly high, 4.67 per 10,000 population, thus suggesting a genetic predisposition.Fourty seven maltese patients with acromegaly were screened for germ-line mutations in the AIP gene. Pituitary tumour tissue, removed during transphenoidal su...

ea0022p437 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

RET mutation screening in multiple endocrine neoplasia type 2 (MEN2) and medullary thyroid carcinoma patients (MTC) in Romania

Loreta Paun Diana , Radian Serban , Iconaru Laura , Badiu Corin , Grigorie Daniel , Marinescu Ileana , Coculescu Mihai , Dumitrache Constantin

Background: According to current guidelines, RET mutation screening is indicated for MEN2 and familial MTC (FMTC) kindreds, as well as for apparently sporadic MTC patients.Aim: To investigate RET mutations in Romanian MEN2, FMTC and sporadic MTC cases.Patients and methods: RET mutation screening was performed by high-resolution melting analysis followed by direct sequencing of PCR products of exons 10-11 in 7 MEN2A families, 2 FMTC...

ea0022p438 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Gonadotrophinoma and parathyroid adenoma

Chronaiou Aikaterini , Kostoglou-Athanassiou Ifigenia , Klangos Georgios , Stefanopoulos Dimitris , Michou Aikaterini , Alexandros Badila Razvan , Kotanoglou Stylianos , Karfi Areti

The coexistence of multiple adenomas in endocrine glands has been described in the context of the syndromes of multiple endocrine neoplasia. However, recently the presence of adenomas in multiple endocrine glands has been described in patients not fulfilling the criteria of the syndromes of multiple endocrine neoplasia.The aim was to describe the case of a patient with a pituitary gonadotrophinoma who presented with primary hyperparathyroidism caused by ...

ea0022p439 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Cushing’s syndrome, clinicaly non-functioning pituitary adenoma and hypercalcemia

Elezovic Valentina , Isailovic Tatjana , Petakov Milan , Macut Djuro , Ognjanovic Sanja , Popovic Bojana , Bozic Ivana , Damjanovic Svetozar

A 25-year-old female, referred because of left hemianopsy, weight gain, fatigue, muscle weakness, and secondary amenorrhea. Physical examination revealed overt Cushingoid features and left temporal hemianopsy. Previously the diagnosis of pituitary macroadenoma (MRI) with suprasellar, infrasellar, and right parasellar propagation was made in regional hospital. Laboratory results showed moderate hypercalcemia with hypophosphatemia and hypercalciuria with inappropriately normal P...

ea0022p440 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Use of recombinant human thyroid-stimulating hormone (rhTSH) in children and adolescents with differentiated thyroid cancer

Mackova Marketa , Sykorova Pavla , Vlcek Petr

Paediatric thyroid cancer is rare but belongs to the most frequent malignancies in children and its incidence increases. The difference from adult disease subsists in good curability despite of quicker proliferation and earlier development of metastases. Influence of previous radioactivity exposure in the pathogenesis has been proven.For the optimal uptake of radioiodine 131I in the post-operative thyroid remnants it’s necessary to achiev...

ea0022p441 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Metastatic mammary carcinomas with neuroendocrine features- a case report

Brehar Andreea , Bulgar Alexandra , Dumitrache Constantin

Mammary carcinomas with endocrine differentiation are an uncommon subtype of breast carcinomas that are morphologically indistinguishable from low-grade endocrine neoplasm arising in other organs.Neuroendocrine cells are present in mammary tissue. Neuroendocrine differentiation can be found in benign and malign lesions of various organs. Recent studies have reported the existence of neuroendocrine differentiation in breast carcinomas as being between 3% ...

ea0022p442 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

The laterocervical unique masses – a challenging pathology

Anca-Roxana Costan , Carmen Vulpoi , Carmen Vicol , Felicia Crumpei , Dan Ferariu , Eugenia Popescu , Victor-Vlad Costan

Introduction: Extrathyroidal unique laterocervical masses are infrequent, and their etiological diagnosis is difficult. Since clinical and imagistic features cannot distinguish between different ethiologies, morphological data are mandatory in order to establish a precise therapeutic strategy. Therefore the initial treatment is surgery, followed by an adequate therapeutical scheme. We would like to report our experience treating this pathology.Patients a...

ea0022p443 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Is In2-ghrelin variant, a ghrelin gene derived transcript, a novel player in breast cancer tumors?

Gahete Manuel D , Cordoba-Chacon Jose , Hergueta Marta , Gracia-Navarro Francisco , Kineman Rhonda D , Moreno-Bueno Gema , Luque Raul M , Castano Justo P

Ghrelin has been classically known as a GH- and metabolism-regulating hormone, mainly produced by stomach. However, it also acts as a paracrine or autocrine factor in several tissues, where it can regulate tissue growth and neoplastic cell proliferation. Of note, ghrelin needs to be acylated at Ser3 by the ghrelin-O-acyltransferase (GOAT) enzyme to bind to its receptor GHS-R1a. Interestingly, the ghrelin gene can give rise to distinct additional peptides, generated by alternat...

ea0022p444 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Gastroenteropatic Neuroendocrine tumors: multidisciplinary approach in therapy

Kinova Sona , Kekenak Lubos , Kovacova Eva , Makaiova Izabela , Koren Michal

Introduction: Gastroenteropancreatic neuroendocrine tumors (GEP-NET) are classified on the basis of hormonal activity of tumor cells to functional and non-functional tumors. Therapy of well differentiated NETs includes surgical procedures, debulking of tumor mass, biotherapy and peptid receptor radionuclid therapy.Aim of the study: Analysis of therapeutic modalities in group of patients with well differentiated GEP-NETs.Results: In...

ea0022p445 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

The use of receptor tyrosine kinase inhibitors in metastatic differentiated thyroid carcinoma

Gkountouvas Anastasios , Kostoglou-Athanassiou Ifigenia , Veniou Eirini , Thomas Dimitrios , Aggelopoulou Anastasia , Nikas Marios , Ziras Nicolaos , Kaldrymides Philippos

The management of metastatic differentiated thyroid carcinoma included until recently the use of therapeutic 131I, radiotherapy and in specific cases chemotherapy. However, recently new agents entered in the management of differentiated metastatic thyroid carcinoma which aim at specific cell receptors and inhibit the growth of the carcinoma in a specific and targeted way.The aim was to present the experience of the use of the receptor tyrosine...

ea0022p446 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

The relationship of testosterone to PSA in men with sexual dysfunction

Corona Giovanni , Boddi Valentina , Lotti Francesco , Gacci Mauro , Carini Marco , De Vita Giulia , Sforza Alessandra , Forti Gianni , Mannucci Edoardo , Maggi Mario

Introduction: Concern about a testosterone-induced PSA increase is often perceived as one of the main limitations in treating hypogonadism even when it is symptomatic, such as in subjects with sexual dysfunction (SD). The aim of the present study is to evaluate the relationship between testosterone (T) and PSA levels in subjects with SD.Methods: We retrospectively evaluated the relationship between T and PSA in 2291 subjects seeking medical care at our O...

ea0022p447 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Primary carcinoid as an incidental finding in a mature cystic teratoma of the ovary: case report

Cornianu Marioara , Dema Alis , Golu Ioana , Lazar Elena , Taban Sorina , Faur lexandra , Amzar Daniela , Zosin Ioana

Carcinoid tumors are distinct neuroendocrine neoplasms with characteristic histological, clinical and biological features.Material and methods: An extremely rare case of a primary carcinoid tumor arising in a mature cystic teratoma is reported. A 23-year-old woman was admitted with pain in the lower abdomen and for further examination of a tumor in the left anexa. Transabdominal ultrasonography demonstrated a cystic mass measuring 110/70 mm, with irregul...

ea0022p448 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Conditions and implications of rhTSH application for ablation in treatment of Differentiated thyroid cancer

Sykorova Pavla , Mackova Marketa , Vlcek Petr

A basic tool of the thyroidal cancer treatment is the total thyroidectomy. Immediately after the thyroidectomy, the patients receive a thyroxin. In the case of positive histology after lobectomy, we first indicate the total thyroidectomy. If the tumor is larger than 1 cm or if is a multifocal one, we indicate the ablation of the remnant with I131.Usually, the differentiated thyroid cancer is non-aggressive and we proceed with a standard way of...

ea0022p449 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Pheochromocytomas in the RET protooncogene mutations carriers

Hasse-Lazar Kornelia , Krawczyk Aleksandra , Szpak-Ulczok Sylwia , Pawlaczek Agnieszka , Ziaja Jacek , Jarzab Barbara

Mutations in the RET protooncogene cause familial cases of medullary thyroid cancer, which in some cases coexists with pheochromocytoma and primary hyperparathyreoidism as the MEN2A syndrome.Aim of the study: Evaluation of frequency of pheochromocytomas and their clinical course in the RET protooncogene mutations carriers.Material: One hundred and seventy nine patients, among them 109 probands and 70 family members in...

ea0022p450 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Unusual cause of hyercalcemia in pheochromocytoma

Katreddy Venkata M R , Ashawesh Khalid , Saraf Sanjay , Fiad Tarek M

Introduction: Hypercalcemia with pheochromocytoma usually occurs as part of MEN syndrome associated with parathyroid adenomas or hyperplasia. Here, we present a case of malignant pheochromocytoma with hypercalcemia caused by the secretion of PTHrP secretion tumour itself. Hypercalcemia was corrected on by the removal of the malignant pheochromocytoma.Case: A 75-year-old gentleman with PMHx of hypertension presented with a history of fall and head injury ...

ea0022p451 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Prokineticin 1 stimulates prostate epithelial cell migration and proliferation in vitro

Visonti Daniela , Bellastella Giuseppe , Rossi Valentina , Chieffi Paolo , Maione Luigi , Punzo Paola , Bellastella Antonio , Sinisi Antonio Agostino

Prokineticin 1 (Prok1), the product of EGVEGF/PROK 1 gene, acts through two G-coupled receptors (PKR1 and PKR2) and is involved in a wide spectrum of actions, including tumorigenesis. Increased Prok1 expression has been found in prostate hyperplasia and cancer, suggesting a role in prostate cancer and BPH. Aim of this study was to elucidate the role of Prok1 on prostate cell function and growth. We evaluated the effects of Prok1 on epithelial prostate cell (PC) migration and p...

ea0022p452 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Cushing’s disease as the first manifestation of familial multiple endocrine neoplasia syndrome type 1

Rostomyan Liliya , Mokrysheva Natalya , Tiulpakov Anatoly , Rozhinskaya Ludmila

MEN1 syndrome is an autosomal dominant inherited disease characterised by primary hyperparathyroidism in association with endocrine enteropancratic tumors and anterior pituitary adenomas. Tumours of the pituitary gland as the first manifestations of MEN1 are very rare in children.Clinical case report: A 13-year-old boy presented with clinical signs suggestive of Cushing’s syndrome. He had decreased growth rate, muscle weakness, headaches and truncal...

ea0022p453 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Two exceptional etiologies of classic endocrinopathies

Lila Brakni , Lies Chenak , Malek Iabassen , Zahra Kemali

Introduction: Two patients admitted for evaluation of a hypercalcemia and hypothyroidism whose etiologic diagnosis showed itself unusual.Case no. 1: A 45 years old man allowed for disorders of consciousness, vomitings and headaches, biology showed a hypercalcemia, a hypophosphoraemia, hyperPTH. The imaging revealed parathyroidal adenoma with a compressive prolactinema. Pet Scan-FDG showed a metabolic activity of the thymic cavity with a necrotic aspect, ...

ea0022p454 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Peptide receptor radionuclide therapy and NETs: how to select patients?

Ahluwalia Rupa , McKane Gail , Vora Jiten , Vinjamuri Sobhan

Neuroendocrine tumors (NETs) are rare tumours arising from the gastroenteropancreatic axis. They are slow growing and often metastatic. Diagnostic workup requires imaging; both anatomical (ultrasound, CT, MRI) and functional (somatostatin receptor scintigraphy, PET).NETs strongly express somatostatin receptors (SSTRs) of five different subtypes (SSTRs1–5) with SSTR2 being the most common. Some NETs reflect hyperactivity of the guanethidine pathway. ...

ea0022p455 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Clinical characteristics of incidentally discovered phaeochromocytomas

Gheorghiu Monica Livia , Baciu Ionela , Mangalagiu Mara , Banaru Ana , Poiana Catalina , Badiu Corin , Coculescu Mihai

Introduction: Phaeochromocytomas (PHEO) are tumours of the chromaffin cells and are usually detected due to the typical symptom triad including headache, palpitations and sweating associated with persistent and/or paroxysmal blood hypertension. An increasing proportion of PHEO is incidentally discovered upon abdominal imaging.Objective: To analyse the clinical characteristics of the incidentally discovered phaeochromocytomas.Method...

ea0022p456 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

The clonidine supression test with measurement of plasma metanephrines by enzyme immunoassay

Kentos Peter , Moravcikova Anna , Vanuga Peter , Michalekova Miroslava , Kreze Alexander , Pura Mikulas

Background: In pheochromocytomas, the measurement of fractionated metanephrines is the first-line test for diagnosis and the false-positive results remain a problem. Among various parameters and tests used, only the suppression of normetanephrine provides reliable evidence that a pheochromocytoma is not present.Objective: Aim of the study was to analyse the role of clonidine suppression test in laboratory diagnosis of pheochromocytoma.<p class="abste...

ea0022p457 | Endocrine tumours &amp; neoplasia (<emphasis role="italic">Generously supported by Novartis</emphasis>) | ECE2010

Supradiaphragmatic ectopic ACTH: producing pituitary adenoma: a case report

Perkovic Zdravko

This report presents a 44-year-old woman with ectopic ACTH-secreting pituitary adenoma located in the supradiaphragmal region. Patient presented with a classical clinical features of long lasting Cushing’s syndrome. She had right leg amputation because of peripheral macrovascular atherosclerosis, severe hypertension, non-regulated diabetes mellitus, hypokalemia and osteoporosis. Baseline tests were suggestive of ACTH-dependent Cushing’s syndrome. Magnetic resonance i...