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15th European Congress of Endocrinology

Poster Presentations

Endocrine tumours and neoplasia

ea0032p508 | Endocrine tumours and neoplasia | ECE2013

Heriditary forms of medullary carcinoma of the thyroid: about a new family

Fedala Nora Soumeya , Chentli Farida , Saraoui Fatima , Griene Lakhdar , Chikouche Mohamed

The medullary carcinoma of thyroid is rare and represent 5–10% of the thyroid cancers. It appears under sporadic and family forms in more than a third of cases. It becomes integrated them into the multiple endocrine neoplasms type 2 of autosomique dominant transmission associate with germinal mutations of the gene RET. We bring report in this study, the observation of a new family shape. BL index case was diagnosed in the age of 42 years further to the appearance of a sev...

ea0032p509 | Endocrine tumours and neoplasia | ECE2013

Abstract unavailable....

ea0032p510 | Endocrine tumours and neoplasia | ECE2013

Adrenocortical carcinoma: a population-based study on incidence and survival in the Netherlands since 1993

Kerkhofs Thomas , Verhoeven Rob , van der Zwan Jan-Maarten , Dieleman Jeanne , Kerstens Michiel , Links Thera , van de Poll-Franse Lonneke , Haak Harm

Introduction: Adrenocortical carcinoma (ACC) has a reported annual incidence of 0.5–2.0 cases per million individuals. Updated population-based studies on incidence are lacking. The aim of this nationwide survey was to describe the incidence and survival rate of ACC in the Netherlands. Secondary objectives were to evaluate changes in survival rates and in the number of patients undergoing surgery.Methods: All ACC patients registered in the Netherlan...

ea0032p511 | Endocrine tumours and neoplasia | ECE2013

Investigation of novel chemotherapeutic combinations in a tumor model for adrenocortical carcinoma

Jung Sara , Hantel Constanze , Mussack Thomas , Reincke Martin , Beuschlein Felix

Medical treatment of adrenocortical carcinoma (ACC) is limited to common cytotoxic agents, which are usually given in combination with mitotane (M). Recently, we investigated together with M the effects of i) the classical EDP protocol (etoposide, doxorubicin, and cisplatin) and ii) a novel paclitaxel containing scheme PDP (paclitaxel, doxorubicin, and cisplatin) on human NCIh295 cells indicating anti-tumoral superiority of PDP-M over EDP-M regarding cell viability (P...

ea0032p512 | Endocrine tumours and neoplasia | ECE2013

Biochemical diagnosis of pheochromocytoma using plasma free normetanephrine, metanephrine and methoxytyramine: importance of supine sampling under fasting conditions

Darr Roland , Peitzsch Mirko , Pamporaki Christina , Prejbisz Aleksander , Fassnacht Martin , Beuschlein Felix , Neumann Hartmut , Januszewicz Andrzej , Lenders Jacques , Eisenhofer Graeme

Objective: To document influences of sampling of blood under supine fasting versus seated non-fasting conditions on diagnosis of pheochromocytoma using plasma concentrations of normetanephrine, metanephrine and methoxytyramine (P-NMN/MN/MTY).Design and methods: P-NMN/MN/MTY were measured by liquid chromatography with tandem mass spectrometry in 695 patients at five centers, two of which complied with requirements for supine sampling after an overnight fa...

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...

ea0032p514 | Endocrine tumours and neoplasia | ECE2013

Characterization and sub-cellular localization of somatostatin receptors in DU-145 and PC-3 human androgen-independent prostate cancer cells: effect of mono- and bi-specific somatostatin analogs on cell growth

Ruscica Massimiliano , Arvigo Marica , Steffani Liliana , Gatto Federico , Albertelli Manuela , Culler Michael D. , Valenti Luca , Minuto Francesco , Macchi Chiara , Ferone Diego , Magni Paolo

Somatostatin (SRIF) is an inhibitory hormone that plays a regulatory role in several cell functions including cell proliferation. SRIF acts through five specific membrane receptors (sst1-5), expressed on SRIF-target cells. SRIF and ssts may play a significant role in the progression and neuroendocrine differentiation of human prostate cancer (PCa). However, conflicting results have been reported in the literature on ssts heterogeneity and specific cell localization in PCa. Aim...

ea0032p515 | Endocrine tumours and neoplasia | ECE2013

Prevalence of P30L, V281L and P453S mutations of CYP21 gene in patients with nonfunctional adrenal incidentalomas

Kiedrowicz Bartosz , Binczak-Kuleta Agnieszka , Lubikowski Jerzy , Ciechanowicz Andrzej , Syrenicz Anhelli

Introduction: Clinically inapparent adrenal masses (incidentalomas) are detected incidentally by imaging procedures in 0.5–4.5% of the general population. Diagnostic process identifies functional and potentially malignant tumors. Adrenocortical tumors might be the first manifestation of non-classic congenital adrenal hyperplasia (NC-CAH). P30L, V281L and P453S mutations of CYP21 gene are the most common mutations of NC-CAH. The aim of the study was to evaluate the relatio...

ea0032p516 | Endocrine tumours and neoplasia | ECE2013

Comparison of two mitotane starting dose regimens in patients with advanced adrenocortical carcinoma

Kerkhofs Thomas , Baudin Eric , Terzolo Massimo , Allolio Bruno , Chadarevian Rita , Leboulleux Sophie , Mantero Franco , Haak Harm , Fassnacht Martin

Introduction: Current medical treatment of adrenocortical carcinoma (ACC) is based on mitotane alone or in combination with cytotoxic chemotherapy. However, very little is known about the pharmacokinetic properties of mitotane and dosing schedules are based on clinical experience only. The aim of this study was to investigate the relationship between mitotane dose and plasma concentration comparing two pre-defined treatment regimens. Secondary objectives were to evaluate safet...

ea0032p517 | Endocrine tumours and neoplasia | ECE2013

The bone morphogenic proten 7 (Bmp7) plays a pro-tumorigenic role in pheochromocytoma

Repokis Ines , Hofig Ines , Anastasov Natasa , Beuschlein Felix , Atkinson Michael J , Pellegata Natalia

Introduction: Rats carrying a germline loss-of-function mutation in p27 (MENX syndrome) develop bilateral pheochromcoytoma (PCC) with complete penetrance. Gene expression profiling of rat PCCs identified genes highly expressed in tumors vs normal adrenal medulla. Several of them were found up-regulated also in human PCCs (both sporadic and familial), including the BMP7 gene encoding a member of the bone morphogenic protein family. BMP7 has been shown to be involved in other hu...

ea0032p518 | Endocrine tumours and neoplasia | ECE2013

Neuroendocrine tumours (NETs) of lung: new data on atypical carcinoid and large cell neuroendocrine carcinoma from a French-Italian multicentric study

Marciello Francesca , Mercier Olaf , Ferolla Piero , David Planchard , Filosso Pier Luigi , Chapelier Alain , Grimaldi Franco , de Latour Bertrand Richard , Blanco Giusy , Guigay Joel , Monaco Guglielmo , Dartevelle Philippe , Papotti Mauro , Scoazec Jean-Yves , Colao Annamaria , Baudin Eric , Faggiano Antongiulio

Introduction: Natural history of lung neuroendocrine tumours (NETs) and in particular of two histological subtypes, atypical carcinoid (AC) and large cell neuroendocrine carcinoma (LCNEC), is poorly known.Aim of the study was to determine disease-free survival (DFS) and overall survival (OS) of sporadic, resectable, non-metastatic lung AC and LNEC.Patients and methods: This retrospective study involved 116 consecutive patients surg...

ea0032p519 | Endocrine tumours and neoplasia | ECE2013

mTOR, AKT, p70S6K and ERK1/2 levels predict sensitivity to mTOR and PI3K/mTOR inhibitors in human bronchial carcinoids

Gagliano Teresa , Bellio Mariaenrica , Gentilin Erica , Mole Daniela , Tagliati Federico , Schiavon Marco , Cavallesco Narciso Giorgio , Calabrese Fiorella , Ambrosio Maria Rosaria , Rea Federico , Uberti Ettore degli , Zatelli Maria Chiara

Background: Bronchial carcinoids (BCs) are rare neuroendocrine tumors that are still orphan of medical treatment. Human BC primary cultures may display resistance to everolimus, an inhibitor of the mammalian target of rapamycin (mTOR), in terms of cell viability reduction.Aim: To assess whether the novel dual PI3K/mTOR inhibitor, NVP-BEZ235, may be effective in everolimus-resistant human BC tissues and cell lines. In addition, we search for possible mark...

ea0032p520 | Endocrine tumours and neoplasia | ECE2013

Assessment of fatal events in patients with radio-active iodine (RAI)-refractory differentiated thyroid cancer responsive to treatment with sorafenib

Marotta Vincenzo , Del Prete Michela , Ramundo Valeria , Marciello Francesca , Di Sarno Antonella , Esposito Raffaella , Carratu Annachiara , de Luca di Roseto Chiara , Camera Luigi , Colao Annamaria , Faggiano Antongiulio

Introduction: Targeted therapy with the multi-kinase inhibitor sorafenib is effective for treatment of differentiated thyroid cancer (DTC) unresponsive to RAI. Although kinase-inhibitors (KIs) are usually well tolerated, severe and even fatal adverse events are reported. Aim of the study was to assess incidence and characteristics of fatal events in patients with RAI-refractory DTC responsive to treatment with sorafenib.Design: A retrospective analysis o...

ea0032p521 | Endocrine tumours and neoplasia | ECE2013

Diagnosis of endogenous hyperinsulinism through arterial calcium stimulation with hepatic venous sampling

Moreno Paloma Moreno , Exposito Maria Rosa Alhambra , Tendero Luis Zurera , Ortega Rafael Palomares , Moreno Maria Angeles Galvez , Lopez Pedro Benito

Objective: The aim of this study was to assess the utility of arterial calcium stimulation with hepatic venous sampling (ASVS) in the localization of tumors in patients with endogenous hyperinsulinism not detected with other methods.Patients and methods: We performed a retrospective study of 30 patients admitted to our hospital for hypoglycemia who underwent ASVS because the source of hyperinsulinism was not clearly identified by other imaging techniques...

ea0032p522 | Endocrine tumours and neoplasia | ECE2013

Localization of pathological parathyroids in patients with thyroid abnormalities by PTH measurements in fine needle aspiration biopsy washouts

Popowicz Bozena , Sporny Stanislaw , Jankiewicz-Wika Joanna , Klencki Mariusz , Slowinska-Klencka Dorota

Preoperative localization of the pathological parathyroid gland is critical in the clinical evaluation of patients with primary hyperparathyroidism (PHP) before surgical resection. Unfortunately, scintigraphy nor ultrasound-guided FNAB do not show enough accuracy in this respect, especially in patients with concurrent thyroid pathology.The aim of the investigation was to assess the usefulness of measurements of PTH concentration in FNAB washouts (PTH-FNA...

ea0032p523 | Endocrine tumours and neoplasia | ECE2013

Six-years experience in the treatment of the neuroendocrine tumors with the use of peptide receptor radionuclide therapy (PRRT)

Sowa-Staszczak Anna , Stefanska Agnieszka , Tomaszuk Monika , Gilis-Januszewska Aleksandra , Pach Dorota , Mikolajczak Renata , Hubalewska-Dydejczyk Alicja

Introduction: The aim of this study was to assess the efficacy of peptide receptor radionuclide therapy (PRRT) with the use of 90Y-DOTATATE and the survival rate of patients with disseminated or non-operable neuroendocrine tumors (NETs).Methods: In the time period from June 2006 to October 2012, 70 patients were treated with PRRT in our department. The 90Y-DOTATATE therapeutic activity was calculated per total body surface area up t...

ea0032p524 | Endocrine tumours and neoplasia | ECE2013

The expression of SSTR dominant negative truncated variant sst5tMD4 influences the effects of SOM-230 on prostate cells in vitro

Rossi Valentina , Visconti Daniela , De Rosa Cristina , Abbondanza Ciro , Cioffi Iolanda , De Masi Assunta , Sinisi Antonio Agostino

Introduction: The presence of truncated variant of somatostatin receptors (SSTR) has been demonstrated in pituitary tumours. These variants seems act as dominant negative of SSTR and induce the resistance to SST analogue (SSTA) treatment. A variant of SSTR5, sst5TMD4, has been found to disrupt SST signalling in breast cancer cells. In present study, we assayed the expression of sst5TMD4 in two non-transformed epithelial prostate cell lines (EPC): EPN, derived from a normal sur...

ea0032p525 | Endocrine tumours and neoplasia | ECE2013

Function and origin of tumour-associated fibroblasts (TAFs) in human parathyroid neoplasia

Verdelli Chiara , Avagliano Laura , Guarnieri Vito , Scillitani Alfredo , Passini Elena , Vicentini Leonardo , Steffano Giovan Battista , Spada Anna , Bulfamante Gaetano , Corbetta Sabrina

Tumour-associated fibroblasts (TAFs) are important players in tumour formation, growth, enhancement and metastasis. We firstly investigated the TAFs component in human parathyroid neoplasia from patients with primary hyperparathyroidism. Alpha-smooth muscle actin (alpha-SMA) has been used to identify activated TAFs (myofibroblasts). Culturing explants from parathyroid adenomas (PA, n=5), large spindle-shaped alpha-SMA+ cells outgrew from explants and the expression of...

ea0032p526 | Endocrine tumours and neoplasia | ECE2013

Expression of FGF23, Klotho, CaSR, and PTHrP in carcinoma in situ and germ cell tumors of the testis: implications for testicular microlithiasis

Blomberg Jensen Martin , Nielsen John E , Jorgensen Anne , Juul Anders , Rajpert-De Meyts Ewa

Introduction: Vitamin D (VD) metabolism is active in normal testis, but lost during the malignant progression from carcinoma in situ (CIS) to overt germ cell tumors (TGCTs). CIS and TGCTs are often associated with intratubular deposition of hydroxyapatite (microlithiasis). Imbalance in FGF23 and PTH homeostasis may result in calcification of mesodermal-derived tissue, so we hypothesized that this mechanism may be involved in testicular microlithiasis. Here, we investi...

ea0032p527 | Endocrine tumours and neoplasia | ECE2013

The clinical characteristics of primary hyperparathyroidism (PHPT) in patients with multiple endocrine neoplasia (MEN) type 1

Rostomyan Liliya , Mokrysheva Nataliya , Tiulpakov Anatoly , Artemova Alla , Kirdyankina Nataliya , Rozhinskaya Liudmila

: Rarely PHPT could be a part of MEN 1 (2–4.5%). Little is known about clinical differences between MEN1 related and sporadic PHPT.Aim: To compare the clinical features of PHPT in MEN type 1 cases and sporadic PHPT.Materials and methods: Data were obtained in 442 patients: 62 sharing MEN1 phenotype (PHPT in association with pituitary adenomas and/or gastroenteropancreatic neuroendocrine tumors) (Group-I) and 380 with apparentl...

ea0032p528 | Endocrine tumours and neoplasia | ECE2013

Establishment of patient-individual tumor models for endocrine tumors

Hantel Constanze , Scheller Franzi , Ozimek Alexandra , Chiapponi Costanza , Mussack Thomas , Beuschlein Felix

In an attempt to amend the lack of preclinical models for endocrine tumors, we recently initiated establishment of patient-individual tumor models. Pieces from four adrenocortical carcinomas (ACC), one aldosterone producing adenoma (APA), one pheochromocytoma (pheo), one metastasis of a malignant pheo, one pheo and medullary thyroid carcinoma associated with multiple endocrine neoplasia type 2 and 11 neuroendocrine tumors (NETs, nine NETs of the gastroenteropancreatic system i...

ea0032p529 | Endocrine tumours and neoplasia | ECE2013

Familial malignant paraganglioma is long-term stabilized with the tyrosine-kinase inhibitor sunitinib

Ramundo Valeria , Marciello Francesca , Del Prete Michela , Marotta Vincenzo , Esposito Raffaella , Chiara Carratu Anna , de Luca di Roseto Chiara , Colao Annamaria , Faggiano Antongiulio

Introduction: Paragangliomas are neuroectodermal tumors that arise from adrenal medulla or extra-adrenal ganglia and are characterized by high vascularisation. A high rate of these tumours is genetically inherited. For malignant paragangliomas, chemo- and radio-therapy are potentially effective, but tumor response is of short duration and patient prognosis is quite poor. Sunitinib is a tyrosine-kinase inhibitor, targeting VEGFR1, -2, PDGFRα, -β, RET and c-Kit. Recent...

ea0032p530 | Endocrine tumours and neoplasia | ECE2013

Insulinoma: is enucleation a safe option?

Jilesen Anneke , Klumpen Heinz-Josef , Bisschop Peter , Busch Olivier , van Gulik Thomas , Gouma Dirk , van Dijkum Els Nieveen

Background: Insulinomas are the most prevalent functional neuroendocrine tumors of the pancreas. Enucleation is often preferred to pancreatic resection because it’s minimally invasive nature. The aim of this study is to assess the post-operative surgical outcome in particular pancreatic fistula after resection.Methods: All patients with insulinomas were selected from a retrospective database of resected pancreatic neuroendocrine tumors (pNET). Patie...

ea0032p531 | Endocrine tumours and neoplasia | ECE2013

Long-term outcome after transarterial chemoembolization of hepatic metastases from neuroendocrine tumors

Ognjanovic Sanja , Petakov Milan , Isailovic Tatjana , Elezovic Valentina , Macut Djuro , Popovic Bojana , Bozic Ivana , Bogavac Tamara , Ilic Dusan , Colic Momcilo , Damjanovic Svetozar

Introduction: Most patients with neuroendocrine tumors (NETs) present with liver involvement at the time of diagnosis. Trans-catheter arterial chemoembolization (TACE) is accepted treatment of patients with non-resectable hepatic metastases from NETs.Aim: To analyze objective tumor response and clinical outcome in patients with hepatic metastases from NETs who underwent TACE.Methods: Thirty-one patients underwent 140 TACE procedure...

ea0032p532 | Endocrine tumours and neoplasia | ECE2013

Pituitary transforming gene 1 (PTTG1) expression in seminoma

Milardi Domenico , Grande Giuseppe , Pierconti Francesco , Martini Maurizio , Cenci Tonia , Gulino Gaetano , Schinzari Giovanni , Larocca Luigi Maria , Rindi Guido , Pontecorvi Alfredo , De Marinis Laura

Pituitary transforming gene 1 (PTTG1) is a mammalian securing involved in mitosis to ensure chromosomal stability. PTTG1 is overexpressed in a variety of tumors. It can directly and indirectly induce expression of genes that are involved in regulating tumorigenesis and cancer development (c-Myc, bFGF, VEGF and MMP2).We evaluated PTTG1-expression by immunohistochemistry on formalin-fixed and paraffin-embedded specimen testicular tissues from 53 male patie...

ea0032p533 | Endocrine tumours and neoplasia | ECE2013

Polymorphisms of the glucocorticoid receptor gene, as phenotype modifiers in patients with hormonally inactive adrenal adenomas

Acs Bence , Szappanos Agnes , Feldman-Kovacs Karolina , Liko Istvan , Majnik Judit , Acs Orsolya , Szucs Nikolette , Toth Miklos , Racz Karoly , Patocs Attila

Introduction: Altered sensitivity against glucocorticoids is partly influenced by polymorphisms (SNP) of the glucocorticoid receptor gene (GR). The aim of the present study was to extend our earlier study by inclusion and evaluation the role of the BclI and A3669G polymorphisms of the GR in patients with hormonally inactive adrenal adenomas.Description of methods: This is a retrospective, single-centre genetic association study The study included 99 pati...

ea0032p534 | Endocrine tumours and neoplasia | ECE2013

Mitochondrial ultrastructure in pseudohypoxic succinate dehydrogenase B and von Hippel–Lindau gene mutation derived pheochromocytomas and paragangliomas

Tsokos Maria , Fliedner Stephanie , Prodanov Tamara , Abu-Asab Mones , Osman Jailan , Lehnert Hendrik , Pacak Karel

Mutations in the mitochondrial succinate dehydrogenase (SDH) subunits A, B, C, and D have been shown to hamper oxidative phosphorylation and predispose to pheochromocytomas (PHEOs) and paragangliomas (PGLs). These tumors are characterized by a glycolytic and pseudohypoxic phenotype, which is also seen in most PHEOs/PGLs occurring as part of von Hippel–Lindau (VHL) syndrome, due to VHL gene mutations. The rate of extra-adrenal tumor origin and malignancy however is particu...

ea0032p535 | Endocrine tumours and neoplasia | ECE2013

Adrenal lesions in patients with neuroendocrine tumors

Popovic Bojana , Macut Djuro , Petakov Milan , Bozic Ivana , Bogavac Tamara , Isailovic Tatjana , Ognjanovic Sanja , Elezovic Valentina , Micev Marjan , Menkovic Nemanja , Ilic Dusan , Damjanovic Svetozar

Introduction: The coexistence of adrenal tumors (AT) in patients with neuroendocrine tumors (NETs) has not been extensively studied. The aim of our study was to investigate their prevalence and clinical significance in these patients.Materials and methods: We retrospectively studied 447 patients with NETs of all localizations, treated at our department between 2004 and 2012. Diagnosis was established pathohistologically, classification performed accordin...

ea0032p536 | Endocrine tumours and neoplasia | ECE2013

Association between expression of Ki-67, parafibromin, p27, and Rb protein and the biological behavior in parathyroid tumors

Ohkuwa Keiko , Masaki Chie , Akaishi Junko , Suzuki Akifumi , Uruno Takashi , Shibuya Hiroshi , Kitagawa Wataru , Nagahama Mitsuji , Sugino Kiminori , Ito Koichi

Background: Parathyroid carcinoma (PC) is uncommon and occurs in only 1–5% cases of primary hyperparathyroidism. The histological diagnosis of parathyroid tumors can be challenging, and beneficial histological markers are not available for diagnosis or predicting the prognosis of patients. In this study, we investigated the expression of Ki-67, parafibromin, p27, and Rb protein in parathyroid tumors and assessed the correlation between histological diagnosis or prognosis,...

ea0032p537 | Endocrine tumours and neoplasia | ECE2013

RPS13 and cell cycle signaling pathways in pituitary tumorigenesis

Martins Clarissa , Camargo Renata , Saggioro Fabiano , Neder Luciano , Machado Helio , Moreira Ayrton , Castro Margaret

Introduction: Abnormalities in cell cycle pathways, such as CDKN1B (p27) underexpression, have been identified in the pathogenesis of pituitary adenomas, but their underlying mechanisms have not been elucidated. Ribosomal proteins have been recently related to pituitary tumorigenesis. In gastric cancer, RPS13 down-regulates p27 and promotes cell cycle progression; these mechanisms have not yet been explored in pituitary adenomas.Objective: To evaluate th...

ea0032p538 | Endocrine tumours and neoplasia | ECE2013

Incidental thyroid carcinomas in patients operated on for benign thyroid pathology, are there preoperative factors suggesting a higher risk?

Paja Miguel , Ugalde Aitziber , Barrios Borja , Oleaga Ameli , Calles Laura , Moreno Cristina , Ugarte Estibaliz , Oleaga Amelia

Introduction: The discovery of incidental thyroid carcinomas (ITC) in patients undergoing surgery for a benign disease range between 3 and 16% of cases. During years, patients with hyperthyroidism were considered protected by TSH suppression (TSH is well known factor that favors the development of thyroid cancer). Thyroid size might be a predictive factor due to the excess of thyroid tissue prone to mutations. The knowledge of determining factors foretelling the presence of un...

ea0032p539 | Endocrine tumours and neoplasia | ECE2013

Involvement of PKCβ and PKCδ isoforms in TSH signaling pathway in thyroid cancer cell lines

Mole Daniela , Gentilin Erica , Gagliano Teresa , Tagliati Federico , degli Uberti Ettore , Zatelli Maria Chiara

It is well established that most TSH effects on the thyroid gland, including stimulation of proliferation, thyroid hormone synthesis and expression of thyroid-specific genes, are transmitted mainly by the adenylate cyclise pathway. However, in human follicular cells and in rat FRTL-5 cells, TSH can also stimulate the β-isoforms of PLC that catalyzes the hydrolysis of phosphatidyl-inositol 4,5-phosphate, yielding the second messengers DAG and inositol 1,4,5-phosphate facil...

ea0032p540 | Endocrine tumours and neoplasia | ECE2013

PKCδ plays an important in regulating human medullary thyroid carcinoma cell viability

Mole Daniela , Gentilin Erica , Gagliano Teresa , Tagliati Federico , Ambrosio Maria Rosaria , degli Uberti Ettore , Zatelli Maria Chiara

Protein kinase C (PKC) is a family of serine-threonine kinases that regulate many cellular processes including proliferation and survival. Previous evidence has shown that PKC is involved in the control of human medullary thyroid carcinoma (MTC) proliferation and survival by modulating apoptosis, with a mechanism that implicates PKCβII isoform and translocation in different subcellular compartments.In this study, we investigated the role of PKC&#948...

ea0032p541 | Endocrine tumours and neoplasia | ECE2013

Sequential use of the kinase-inhibitors sorafenib and sunitinib in a patient affected with pluri-metastatic iodine-refractory follicular thyroid carcinoma

Marotta Vincenzo , Ramundo Valeria , Marciello Francesca , Del Prete Michela , Di Sarno Antonella , Esposito Raffaella , Carratu Annachiara , de Luca di Roseto Chiara , Camera Luigi , Colao Annamaria , Faggiano Antongiulio

Introduction: Kinase-inhibitors (KIs) are effective for treatment of most aggressive endocrine cancers. The crucial point about treatment with KIs is that these agents are not curative and their effects are at best transitory and are always followed by a restoration of tumour growth and progression. Several retrospective and phase II studies demonstrated efficacy of both sorafenib and sunitib for treatment of iodine refractory differentiated thyroid cancer although results fro...

ea0032p542 | Endocrine tumours and neoplasia | ECE2013

Endogenous Cushing’s syndrome: the Filipino clinical experience of 19 cases

Edward Lo Tom , Cabradilla Joyce , Jimeno Cecilia

Background and significance: Endogenous Cushing’s syndrome is a rare disease entity approximately 13 cases per million population. In Asia, and specifically in the Philippines incidence is unknown. As well, it’s clinical presentation among Filipinos is not well described. The local epidemiology of obesity, diabetes and hypertension are different from other countries. These conditions are the usual initial differential diagnosis for Cushing’s syndrome. This repor...

ea0032p543 | Endocrine tumours and neoplasia | ECE2013

Hyperparathyroid jaw tumour syndrome

Kumar Pranav , Jones Keston

Hyperparathyroid jaw tumour syndrome is a familial form of primary hyperparathyroidism. Individuals are predisposed to develop parathyroid carcinomas (15%), ossifying fibromas of mandible and maxilla (30%), renal abnormalities including cystic lesions and hamartomas, and uterine tumours (1,2). The pathogenic mutation is in CDC73 gene (previously known as HRPT2 and C1orf28) inherited in an autosomal dominant manner.Our patient was the first person in the ...

ea0032p544 | Endocrine tumours and neoplasia | ECE2013

Multimodal combination of interferon and loco-regional treatment for disease control in progressive metastatic pheochromocytoma/paraganglioma patients

Hadoux Julien , Deandreis Desiree , Caramella Caroline , Leboulleux Sophie , Al Ghuzlan Abir , Chougnet Cecile , Dumont Frederic , Deschamps Frederic , Schlumberger Martin , Baudin Eric

Interferon-α (IFN-α) has shown some activity in neuroendocrine tumors with disease stabilizations. Malignant pheochromocytoma and paraganglioma (MPPGLs) have a heterogeneous behavior with a slow progression rate, most of the time and a high frequency of bone metastases. Stabilizing disease and preventing skeletal-related events are two goals to achieve in the management of MPPGLs patients.This retrospective study evaluated a multimodal strategy...

ea0032p545 | Endocrine tumours and neoplasia | ECE2013

The metabolic complications in adrenal tumors: a retrospective study in 56 patients

Poiana Catalina , Carsote Mara , Hortopan Dan , Corneci Cristina , Gruia Adriana , Trifanescu Raluca , Stanescu Bogdan , Paun Diana

Introduction: The metabolic complications in adrenal tumors, regardless secretor or not, are a common finding, thus representing a supplementary warning in these patients related to the non-endocrine therapy as anti-hypertensives, or hypolipemiants drugs, etc.Aim: We analyze the frequency of metabolic complications in primitive adrenal tumors.Materials and methods: This is a retrospective study in patients diagnosed with adrenal tu...

ea0032p546 | Endocrine tumours and neoplasia | ECE2013

Malignant melanoma and prolactine imbalance

Nicolae Corina-Daniela , Nicolae Ilinca , Caragheorgheopol Andra , Schipor Sorina , Alecu Silvia , Alecu Mihail

Introduction: Malignant melanoma is a challenging illness for researchers due to unknown hormonal disorders involved in promoting/developing this disease. Some authors accept nowadays, that prolactin is involved in extrapituitary carcinogenesis.The authors aimed to study the status of prolactin in patients with melanocytic lesions and the impact of surgical removal on prolactinemia.Method: The study included 128 adults with melanom...

ea0032p547 | Endocrine tumours and neoplasia | ECE2013

Influence of iron deficiency on angiogenesis in melanoma patients

Nicolae Ilinca , Nicolae Corina-Daniela , Schipor Sorina , Caragheorgheopol Andra

Introduction: Iron deficiency contributes to stabilization of HIF1α and upregulation of genes that stimulate angiogenesis in diseases associated with oxidative stress. The authors’ interest is centered on evaluation of the relation between iron status and angiogenesis (VEGF-A, sVEGFR) in patients with melanoma.Methods: The study included 128 patients with melanoma before surgical removal of the tumor. We determined ferritin (immunoturbidimetric...

ea0032p548 | Endocrine tumours and neoplasia | ECE2013

Calcitonin comparison study of LIAISON XL vs IMMULITE 2000

Manor Mira , Mayer Yizhak

Introduction: Automated calcitonin assays are one-step sandwich chemiluminescence immunoassay, intended for the quantitative determination of calcitonin in human serum. Calcitonin is the most specific and sensitive marker of medullar thyroid carcinoma for both primary diagnosis and the post-surgical follow-up. Recently a new fast and high throughput Calcitonin II-Gen assay developed on the fully automated LIAISON instruments, which is suitable for high working capacity laborat...

ea0032p549 | Endocrine tumours and neoplasia | ECE2013

Epidermal growth factor pathway as a possible target in the medical therapy of bronchial carcinoids

Gagliano Teresa , Bellio Mariaenrica , Minoia Mariella , Benfini Katiuscia , degli Uberti Ettore , Zatelli Maria Chiara

Bronchial carcinoids (BC) are rare tumors originating from endocrine cells dispersed in the respiratory epithelium. Currently, the main BC treatment is surgery, that can be curative in most of the cases, but is not feasible for large, infiltrating and metastatic disease. In these settings, medical therapy is often tried, being mainly represented by chemotherapy and radiation in the attempt to reduce tumor mass, while somatostatin analogues are employed for symptomatic control....

ea0032p550 | Endocrine tumours and neoplasia | ECE2013

Steroid-induced psychosis as a manifestation of ectopic ACTH secretion from metastatic poorly differentiated neuroendocrine tumour

Zhyzhneuskaya Sviatlana , Mukhtar Rasha , Ashwell Simon , Nag Sath

Case report: A 65-year-old fisherman presented with altered mental status, agitation, generalised oedema, dyspnoea, liver impairment and severe persistent hypokalaemia (2.2 mmol/l). History: COPD, IPF (on steroids since May 2012), ex-smoker. Physical examination: deeply tanned, Cushingoid facies, severe proximal myopathy. Medications prior to admission: prednisolone 40 mg OD, furosemide 40 mg OD, inhalers, and lansoprazole. In a view of clinical and biochemical features of ste...

ea0032p551 | Endocrine tumours and neoplasia | ECE2013

Adrenal incidentalomas – a retrospective analysis for the period 2001–2011

Nyvltova Monika , Vodak Miroslav , Drbalova Karolina , Zavoral Miroslav

Introduction: With the wider availability of imaging techniques there is an increasing number of newly diagnosed, accidentally found pathological formations in the adrenal glands known as adrenal incidentaloma (AI). Currently, the professional consensus is that hormonally active incidentalomas and those suspicious of malignancy should be indicated for surgery.Methods: In our retrospective study, we analyzed data of 141 patients with a total of 160 AIs, w...

ea0032p552 | Endocrine tumours and neoplasia | ECE2013

Androgen receptor expression in stromal and epithelial prostate cancer tissue specimens

Lara Tamburrino , Francesca Salvianti , Sara Marchiani , Gabriella Nesi , Michele Lanciotti , Marco Carini , Pamela Pinzani , Elisabetta Baldi , Gianni Forti

Prostate cancer (PCa) is one of the leading causes of tumor death in Western countries. Modifications in expression and functional alterations that involve the androgen receptor (AR) have been implicated in the progression of PCa and in the development of androgen independence; however, the role of AR in these processes is still debated, as contrasting results have been reported in several studies evaluating the relation between AR expression and disease progression (Tamburrin...

ea0032p553 | Endocrine tumours and neoplasia | ECE2013

Prolactinoma and vestibular schwannoma: a very rare association

Chentli Farida , Belhimeur Faiza , Azzoug Said , Fedala Nora Soumeya

Introduction: The occurrence of primary pituitary tumour and cerebral schwannoma in the same person is very rare. Only few cases have been reported so far. The mechanism of this association is still unclear.Aim: Our aim is to report a man with two different brain tumours: a prolactinoma and a cerebellopontine schwannoma in order to discuss the possible mechanism of multiple neoplasms arising in the same person.Case report: A man ag...

ea0032p554 | Endocrine tumours and neoplasia | ECE2013

The adverse effects in sub-optimal mitotane doses: a retrospective study

Baloescu Rene , Petris Rodica , Peretianu Dan , Dumitrascu Anda , Miron Roxana , Paun Sorin , Carsote Mara , Poiana Catalina

Introduction: There are many side effects caused by mitotane and several are registered at drug levels lower than therapeutical doses.Aim: We observed the mitotane side effects in patients treated for adrenal cancer.Materials and methods: This is a retrospective study in adrenal tumors.Results: Out of 56 patients included in a database with adrenal tumors, we found eight patients (14.25%) with adrenal cancer ...

ea0032p555 | Endocrine tumours and neoplasia | ECE2013

Type 1 gastric endocrine tumors as an autoimmune disease, with emphasis to lymphocytic thyroiditis

Santos Ana Paula , Couto Joana , Martins Raquel , Silva Rui

Introduction: Type 1 gastric endocrine tumors (T1-GET) incidence is increasing world while mainly due to widespread use of upper endoscopy. Autoimmune disease (AID) is the hallmark of T1-GET, pernicious anemia is often found at presentation. Association with lymphocytic thyroiditis (LT) has been described.Aims: Retrospective evaluation of GET data from patients (pts) followed at IPO-Porto, including the presence of other AID with emphasis to LT.<p cl...

ea0032p556 | Endocrine tumours and neoplasia | ECE2013

Acromegaly, primary hyperparathyroidism and meningioma – an unsual association in an asymptomatic patient with MEN1 syndrome

Ferreira Florbela , Nobre Ema , Wessling Ana , Carmo Isabel

Introduction: MEN1 is inherited as an autosomal dominant trait, with a prevalence of 2–20/100 000 in the general population. It is characterized by tumors envolving the parathyroid glands, the endocrine pancreas and the pituitary. Other tumors are more rarely associated: adrenal adenomas, carcinoid tumors, pheocromocytomas, angiofibromas, lipomas, collagenomas and meningiomas. The presence of two or more of MEN1 associated tumors is diagnostic of the syndrome.<p class...

ea0032p557 | Endocrine tumours and neoplasia | ECE2013

Aggressive adreno-cortical carcinoma (ACC) associated with two rectal tumors (adenocarcinoma and neuro-endocrine) and somatic Kras mutation without microsatellite instability: is there a link?

Leroy Clara , DoCao Christine , Karrouz Wassila , Le Guillou Anne-Claire , Derveaux Alexandra , Buisine Marie-Pierre , Perbet R , Leteurtre Emmanuelle , Caiazzo Robert , Pattou Francois , Vantyghem Marie-Christine

Aggressive adreno-cortical carcinoma (ACC) is a rare, aggressive malignancy, with poorly understood molecular pathogenesis. As a result, therapeutic options are currently limited, surgery being currently the lone curative modality. Most cases of ACC are sporadic, although some familial cancer syndromes (Li–Fraumeni, Beckwith–Wiedemann, MEN1, Carney complex, congenital adrenal hyperplasia, etc.) are associated with an increased incidence of ACC. The genes involved in ...

ea0032p558 | Endocrine tumours and neoplasia | ECE2013

Patient-specific management of paragangliomas

Leong H M Christine , Miell John

Introduction: Paragangliomas (PGLs) are extra-adrenal, neural crest-derived neuroendocrine tumours. There are sympathetic (usually abdominal and thoracic regions) or parasympathetic PGLs (head and neck). Catecholamine excess usually occurs in sympathetic PGLs.Case: A 34-year-old lady initially presented with left-sided neck swelling. She was diagnosed with left cervical PGL which was excised. Twenty years later, she noticed another lump in the same regio...

ea0032p559 | Endocrine tumours and neoplasia | ECE2013

Malnutrition cause of Secondary Osteoporosis after surgical operation of Glucagonoma

Jovanoska Biljana , Ahmeti Irfan , Temelkova Snezana Markovik , Pemovska Gordana , Dimitrovski Cedomir , Bitovska Iskra

Introduction: Glucagonoma is a rare condition with annual incidence 1 in 20 million, associated with diabetes mellitus, dermatitis, deep vein trombosis and depression.Case report: A 55-year-old woman patient was hospitalized at our department because of intense discomfort of the skin lesions that were pruritic and painful, erythematous area of skin with blisters that breach after a few days, red tongue, cracks on the mouth corners. She had a constant wei...

ea0032p560 | Endocrine tumours and neoplasia | ECE2013

Clinical, biochemical, genetic and histological features of composite pheochromocytoma/ganglioneuroma adrenal tumors: a series of seven cases from two French academic centres

Bertron Alice , Gobet Francoise , Louiset Estelle , Tetsi-Nomigni Milene , Grumolato Luca , Leteurtre Emmanuelle , Grise Philippe , Yon Laurent , Wemeau Jean-Louis , Lefebvre Herve

Introduction: Adrenal pheochromocytomas have the same embryonic origin, i.e. the neural crest, as peripheral neuroblastic tumors such as ganglioneuromas, ganglioneuroblastomas and neuroblastomas. Ganglioneuromas are benign and silent tumors in that they usually do not secrete catecholamines in contrast to pheochromocytomas. Rarely, they can associate with pheochromocytomas to form composite tumors.Patients and methods: We have retrospectively studied sev...

ea0032p561 | Endocrine tumours and neoplasia | ECE2013

Everolimus treatment in a series of patients with advanced neuroendocrine tumors

Iacovazzo Donato , Lugli Francesca , Plastino Francesca , Schinzari Giovanni , Bianchi Antonio , Fusco Alessandra , Rindi Guido , Pontecorvi Alfredo , De Marinis Laura , Barone Carlo Antonio Mario

Introduction: Everolimus is an oral mTOR inhibitor that exerts antineoplastic effects inhibiting cell proliferation, survival and angiogenesis. Its activity in advanced neuroendocrine tumors (NETs) has been demonstrated in controlled trials and everolimus was approved by the FDA for the treatment of progressive, advanced pNETs in May 2011.Materials and methods: We treated with everolimus, at the dosage of 10 mg once daily, 14 patients with advanced, prog...

ea0032p562 | Endocrine tumours and neoplasia | ECE2013

Are hibernoma or lipoma a marker of type 1 multiple endocrine neoplasia (MEN1) aggressiveness?

Kamoun M , Karrouz W , Le Mapihan K , d'Herbomez M , Beron A , Caiazzo R , Porchet N , Pattou F , Wemeau J L , Vantyghem M C

MEN1, autosomal dominant, is characterized by combined tumours of the parathyroid glands, pancreatic islet cells, and the anterior pituitary, sometimes associated with other endocrine (adrenocortical, foregut carcinoid) and nonendocrine (lipoma, angiofibroma, collagenoma, ependymoma, meningioma) tumors. It is caused by inactivating mutations of the MEN1 tumour suppressor gene (chromosome 11q13), encoding menin. Menin, involved in activation of gene transcription, regu...

ea0032p563 | Endocrine tumours and neoplasia | ECE2013

Malignant pheocromocytoma: vertebral metastasis 18 years after surgery. The importance of prolongued follow-up

Saraiva Joana , Paiva Isabel , Gomes Leonor , Alves Marcia , Gouveia Sofia , Moreno Carolina , Guelho Daniela , Costa Goncalo , Mosteiro Maria , Costa Gracinda , Casanova Jose , Carvalheiro Manuela , Carrilho Francisco

Introduction: Malignant pheocromocytomas are rare. Metastatic disease may be present at the time of diagnosis or may only be evident after. Prognosis is poor. Currently there is no effective cure.Case report: We describe the case of a 66-year-old woman with a history of pheocromocytoma submitted to left adrenalectomy in 1992. In the past 10 years, she complained of episodes of dorsal back pain associated with hypertensive peaks and tachycardia. In 4/2010...

ea0032p564 | Endocrine tumours and neoplasia | ECE2013

Gastroenteropancreatic neuroendocrine tumors: descriptive study in a reference Spanish hospital

de Zayas Beatriz Leon , del Olmo Garcia Maria Isabel , Prol Agustin Ramos , Lazaro Antonia Perez , Rodrigo Susana Tenes , Ripoll Roser Querol , Almanza Matilde Rubio , Gomez Rosa Camara , Torres Juan Francisco Merino

Objective: Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) are relatively infrequent. We present a descriptive study of GEP-NETs of a reference Spanish hospital.Patients and methods: Forty-six patients were diagnosed of GEP-NETs during the period 1993–2011. Data regarding demographic, clinical, analytical, anatomopathological and diagnostic variables were collected. Results are expressed as mean±SD....

ea0032p565 | Endocrine tumours and neoplasia | ECE2013

Extraordinary effect of ketoconazole in treatment of ACTH-dependent paraneoplastic Cushing syndrome

Bohacikova Andrea , Kulich Michal , Vanuga Peter

Background: Although the excision of ACTH-producing tumors or adrenal tumors is the principal treatment for Cushing syndrome (CS), pharmacologic treatment has a well-established role. Among various medical agents, ketoconazole (KTZ) has inhibitory effect over 17,20 desmolase, 17α-hydroxylase, 11β-hydroxylase, and 16α- and 18-hydroxylase; moreover, it also inhibits ACTH production and cellular growth, partly because of apoptosis induction.C...

ea0032p566 | Endocrine tumours and neoplasia | ECE2013

An analysis of genotype--phenotype correlations and variable clinical expression in families with multiple endocrine neoplasia type 1

Jabrocka-Hybel Agata , Skalniak Anna , Piatkowski Jakub , Pach Dorota , Hubalewska-Dydejczyk Alicja

Multiple endocrine neoplasia type 1 is an inherited syndrome that is caused by a germline mutation in the MEN1 gene encoding a tumour-suppressor protein, menin. Currently, no clear genotype–phenotype correlation has been established between clinical forms and MEN1 gene mutations. The aim of the study was clinical characteristics in relation to MEN1 gene mutation in families with MEN1 syndrome treated in our department. To date, genetic testing including complete sequencin...

ea0032p567 | Endocrine tumours and neoplasia | ECE2013

Therapeutic difficulties in elderly patients with insulinoma

Andrysiak-Mamos Elzbieta , Starzynska Teresa , Zochowska Ewa , Bialek Andrzej , Sowinska-Przepiera Elzbieta , Syrenicz Anhelli

Introduction: It is believed that hypoglycemia in the elderly is a dangerous condition and may result in stroke and death. We observed five female patients with insulinoma and over 20-year-long survival.Material: The material includes five female with the diagnosis of insulinoma. Patients’ age ranged from 78 to 91 years while disease duration ranged from 21 to 34 years.Methods: In all the patients, the diagnosis of insulinoma ...

ea0032p568 | Endocrine tumours and neoplasia | ECE2013

Therapy with 177Lu marked somatostatin analogues in a case of pancreatic metastatic neuroendocrine tumor

Belo Sandra , Lucena Ines , Santos Ana Paula , Afonso Luis Pedro , Sanches Cristina , Duarte Hugo

Introduction: Conventional systemic therapies have limited role in metastasized neuroendocrine tumors (NET). Therefore an increasing role is attributed to 177Lu labeled somatostatin analogues (SA).Case: Man, 52 years, referred because of NET, diagnosed following liver biopsy for hepatic nodules (liver tissue infiltrated by NET, compatible with metastases). Endoscopic ultrasound revealed pancreatic nodular formation, 40×24 mm; 99</sup...

ea0032p569 | Endocrine tumours and neoplasia | ECE2013

A case of pheochromocytoma that recognized as panic disorder before its exact diagnosis

Muroya Yohei , Kumagai Naoko , Shimodaira Masanori , Tsuzawa Kaoru , Sorimachi Erisa , Arioka Hiroko , Honda Kazufumi

A 44 year-old female patient visited our department for the treatment of diabetes. Her diabetes was pointed out 1 year before and was resistant to the treatment with oral hypoglycemic agents. From around the same time, she complained of repeated attacks consist of headache, palpitation, sweating and nausea. She had suffered from obsessive compulsive disorder for 20 years and her psychiatrist recognized that these attacks were caused by some psychological problems such as panic...

ea0032p570 | Endocrine tumours and neoplasia | ECE2013

Various neuroendocrine tumors in a multiple endocrin neoplasia type 1 family with the same genetic background

Sepp Krisztian , Csajbok Eva , Magony Sandor , Julesz Janos , Patocs Attila , Racz Karoly , Valkusz Zsuzsanna

Introduction: Multiple endocrine neoplasia (MEN) type 1 is a rare congenital disease with genetic background. The MEN-1 gene encodes menin protein, that acts as a tumor suppressor. Mutation of one allele and the inactivation of the other allele of this gene lead to clonal proliferation and to the development of tumors. The clinical manifestation of MEN type 1 is a combination of endocrine (parathyroid adenomas, entero-pancreatic neuroendocrine tumors, pituitary tumors) and non...

ea0032p571 | Endocrine tumours and neoplasia | ECE2013

Visceral and tumour abormalities in subjects with acromegaly

Haddad Meriem , Daffeur Katia , Akkache Lina , Kalafate Nadia , Chentli Farida

Introduction: Acromegaly is a relatively rare disease with numerous complications. Our aim is to look for visceral abnormalities and tumour development in subjects with GH and insuIin like GH (or IGF1) excess.Subjets and methods: It is a retro-and prospective study that takes in account 112 patients at diagnosis, with pur pituitary tumours secreting GH, or mixed tumours secreting prolactin and GH diagnosed between 1980 and 2012. They all were questioned ...

ea0032p572 | Endocrine tumours and neoplasia | ECE2013

The clinical significance of tumor suppressor gene methylation, expression in nodular thyroid disease

Wei Feng , Wang Zhaoxia , Wu Yun

Objective: The tumor suppressor gene methylation lead to gene silencing, it plays an important role in thyroid tumor occurrence and development. This study examined the tumor suppressor gene (PTEN, RASSF1A, DAPK, RARβ2) DNA methylation and mRNA expression status in the peripheral blood of patients with nodular thyroid disease. Discuss its clinical significance. For the benign and malignant thyroid nodules early identification of molecular diagnosis is based.<p class="...

ea0032p573 | Endocrine tumours and neoplasia | ECE2013

MEN2A syndrome: case presentation

Paun Diana Loreta , Petris Rodica , Totolici Nicoleta , Constantinescu Gabriela , Dumitrache Constantin

We presented the case of a 20-year-old woman which has presented for endocrinologic evaluation after right adrenalectomy for pheochromocytoma. From her heredocolateral antecedents, we retain her grandmother and sister of her father with sudden cardiac death at early age. At this presentation, she had normal plasma and urinary MN and NMN. Plasma Cg A and Serotonin are normal and the CT exam showed right adrenalectomy and right renal microlitiasis. Genetic analysis showed mutati...