Searchable abstracts of presentations at key conferences in endocrinology
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European Congress of Endocrinology 2022

Milan, Italy
21 May 2022 - 24 May 2022

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The 24th European Congress of Endocrinology (ECE) and the Italian Society of Endocrinology look forward to welcoming you to Milan. ECE 2022 returns for a four day, six parallel session festival of endocrine science. You can join us In person in Milan, Italy OR Live @Home online!

Poster Presentations

Endocrine-Related Cancer

ea0081p120 | Endocrine-Related Cancer | ECE2022

Novel panels of tissue microRNAs to diagnose adrenocortical malignancy based on artificial intelligence tools

Turai Peter , Herold Zoltan , Nyiro Gabor , Borka Katalin , Micsik Tamas , Toke Judit , Szucs Nikolette , Toth Miklos , Patocs Attila , Igaz Peter

Adrenocortical tumors are common, occuring in 5-7% of the population. Adrenocortical carcinoma (ACC) is rare (0.7-2/million/year) and it has a poor prognosis with a five-year survival of less than 30% in advanced stages. The histological differentiation of benign and malignant adrenocortical tumors is challenging.Objectives: To explore the diagnostic utility of multiple microRNAs in various combinations as markers of adrenocortical malignancy by using ar...

ea0081p121 | Endocrine-Related Cancer | ECE2022

Abstract Withdrawn...

ea0081p122 | Endocrine-Related Cancer | ECE2022

Diagnostic evaluation of selected granin family proteins and INSM-1 (Insulinoma-associated protein 1) in patients with medullary thyroid carcinoma

Glinicki Piotr , Z.yłka Agnieszka , Długosińska Joanna , Ostrowska Magdalena , Gietka-Czernel Małgorzata , Zgliczyński Wojciech , Dedecjus Marek

Introduction: Medullary thyroid carcinoma (MTC) accounts for 3.5-5% of thyroid cancers. The biochemical diagnosis of MTC is based on the determination of concentration of a sensitive and specific biomarker - calcitonin (CT) as well as CEA and procalcitonin (PCT). Neuroendocrine cells have the ability to produce various proteins and neuropeptides (e.g. granin proteins and INSM-1), which are secreted into the circulation with calcitonin and can be measured in the blood as so-cal...

ea0081p123 | Endocrine-Related Cancer | ECE2022

The transcriptomic and methylomic landscape of POU1F1 pituitary tumors

Silva Roman Gloria Elena , Salazar Ma Isabel , Taniguchi Ponciano Keiko , Pena Martinez Juan Eduardo , Vela Patino Sandra , Andonegui Elguera Sergio , Gomez Apo Erick , Macias Laura Chavez , Espinosa Cardenas Etual , Ramirez Renteria Claudia , Ferreira Hermosillo Aldo , Sosa Ernesto , Mercado Moises , Marrero-Rodriguez Daniel

Pituitary adenomas (PA) are primarily benign lesions with monoclonal origins from the adenohypophyseal cells and represent 10-15% of all intracranial tumors. Tumors derived from POU1F1 cell lineage are GH-, TSH-, and PRL-secreting tumors that cause important syndromes such as acromegaly, hyperthyroidism, and sexual dysfunction, respectively. Surgical resection is the first line of treatment; the secondary treatment is pharmacological; despite having targets pharmacological in ...

ea0081p124 | Endocrine-Related Cancer | ECE2022

Hirsutism as the first manifestation of a mesonephric-like adenocarcinoma of the ovary: the first case with positive androgen receptors

Timon Iciar Martin , Ugalde-Abiega Beatriz , Zubillaga Mikaela , Moreno-Ruiz Inmaculada , Huguet Isabel , Meizoso-Pita Olalla , Trivino Yannuzzi Vanessa , Sevillano-Collantes Cristina

Mesonephric adenocarcinoma (MA) is an uncommon gynecologic tumor that are thought to arise from embryonal remnants of the mesonephric ducts, also known as Wolffian ducts. Mesonephric-like adenocarcinoma (MLA), despite absence of Wolffian origin, have similar morphology and immunophenotype and exhibit molecular aberrations like MA. These tumors are generally negative for estrogen and progesterone receptor.Case Report: An 83-year-old Spanish female was ref...

ea0081p125 | Endocrine-Related Cancer | ECE2022

Elevated SGPL1 expression is associated with increased metabolic rate in cells and reduced survival in individuals with adrenocortical carcinoma

Williams Jack , Smith Chris , Hall Charlotte , Khaled Zakaa , Maharaj Avinaash , Kwong Ruth , Pittaway James , Casas Josefina , Parvanta Laila , Abdel-Aziz Tarek , Palazzo Fausto , Chung Teng-Teng , Guasti Leonardo , Metherell Louise , Prasad Rathi

Introduction: Sphingosine-1-phosphate lyase (SGPL1) catalyses the final step in sphingolipid metabolism, irreversibly degrading the lipid signalling molecule sphingosine-1-phosphate (S1P). The relative abundance of S1P compared to its precursors sphingosine and ceramide finely tunes signal transduction for a wide range of cellular pathways including proliferation, apoptosis, migration and calcium handling. Loss-of-function mutations in SGPL1 cause a spectrum of disorders, incl...

ea0081p126 | Endocrine-Related Cancer | ECE2022

Ultrasound and cytological features of thyroid nodules with aggressive behavior: from histology to clinic

Sgro Daniele , Greco Giuseppe , Brancatella Alessandro , Viola Nicola , Casula Mauro , Torregrossa Liborio , Rago Teresa , Santini Ferruccio , Latrofa Francesco

Fine-Needle Aspiration Biopsy (FNAB) is the recommended diagnostic tool for differentiating malignant from benign thyroid nodules and provides indication for surgical decisions. According to the Italian system, thyroid nodules are classified as TIR 1/1C, TIR 2, TIR 3A, TIR3B, TIR4 or TIR5, which correspond to Thy I, Thy II, Thy III, Thy IV, Thy V and Thy VI categories of the Bethesda system. TIR 3 identifies the indeterminate nodules. Surgery is usually recommended for TIR 3B,...

ea0081p127 | Endocrine-Related Cancer | ECE2022

Role of DKK1 in growth and migration of prostate cancer cells

Rinella Letizia , Compagno Mara , Fiorentino Gloria , Fortunati Nicoletta , Arvat Emanuela , Catalano Maria Graziella

Androgen deprivation therapy is the choice treatment of metastatic prostatic tumors. Unfortunately, very often, resistance occurs and chemotherapy is needed. Results are however disappointing with frequent side effects. Therefore, new therapeutic approaches for metastatic and advanced prostate cancer are necessary. DKK1, an inhibitor of the Wnt signaling pathway, is increased in different types of cancer. In prostate cancer patients with bone metastases, an increase of DKK1 is...

ea0081p128 | Endocrine-Related Cancer | ECE2022

Splicing machinery dysregulation in rare neuroendocrine tumors: pheochromocytomas and paragangliomas

Trinidad Moreno Montilla Maria , Blazquez Encinas Rey Ricardo , Mario Martinez Montes Angel , Garcia Vioque Victor , Alors-Perez Emilia , Mangili Federica , Agraz-Doblas Antonio , Robledo Mercedes , Castano Justo P. , Ibanez Costa Alejandro

Pheochromocytomas and paragangliomas (PPGL) are commonly benign catecholamine-producing neuroendocrine tumors (NETs); however, up to 25 % of patients develop distant metastases or aggressive behavior. The current classification of PPGL comprises pseudohypoxia-profile, MAPK-pathway alteration, and Wnt-pathway dysregulation clusters according to their genomic characterization. However, to date, there are no biomarkers to help stratify patients based on their prognosis. Alternati...

ea0081p129 | Endocrine-Related Cancer | ECE2022

The impact of pregnancy on disease outcome in patients with persistent differentiated thyroid carcinoma

Giancola Noemi , Colombo Carla , De Leo Simone , Trevisan Matteo , Persani Luca , Fugazzola Laura

Background: Pregnancy does not cause differentiated thyroid cancer (DTC) recurrence in patients without structural or biochemical evidence of disease at the time of conception. However, data regarding pregnancy’s impact in patients with persistent DTC before conception are still controversial.Aim: The aim of the study was to determine whether pregnancy could significantly influence the outcome in DTC patients in persistence before pregnancy, but wit...

ea0081p130 | Endocrine-Related Cancer | ECE2022

Origins of progesterone in male mice

Collden Hannah , Hagberg Thulin Malin , Landin Andreas , Norlen Anna-Karin , Ryberg Henrik , Wu Jianyao , Gustafsson Karin L , Grahnemo Louise , Nilsson Karin , Sjogren Klara , Poutanen Matti , Vandenput Liesbeth , Ohlsson Claes

The role of progesterone in male physiology is mainly unknown. We recently observed that progesterone was the most abundant sex hormone in orchiectomized (ORX) mice with most of it stored in white adipose tissue (WAT) (1). The aim of the present study was to use a sensitive and validated gas chromatography/tandem mass spectroscopy method to determine the origins of progesterone in male mice. Tissue levels of progesterone were high in adrenals of male mice, indicating that male...

ea0081p131 | Endocrine-Related Cancer | ECE2022

Neuropeptide Y (NPY) and Human cocaine- and amphetamine-regulated transcript (CART) in patients with adrenal pheochromocytoma

Glinicki Piotr , Ostrowska Magdalena , Papierska Lucyna , Szatko Alicja , Zgliczyński Wojciech

Introduction: Pheochromocytoma is a rare tumor that develops from chromaffin cells of the adrenal medulla. In about 90% of cases, it is a benign tumor. Along with catecholamines, neuroendocrine cells of the adrenal medulla have the ability to produce various proteins and neuropeptides and secrete them into the blood. Among the known biologically active substances are: neuropeptide Y and human cocaine- and amphetamine-regulated transcript (CART).Purpose: ...

ea0081p132 | Endocrine-Related Cancer | ECE2022

Somatostatin receptor splicing variant SST5TMD4 overexpression in glioblastoma is associated to poor survival, increased aggressiveness features and somatostatin analogs resistance

Perez Gomez Jesus , Fuentes-Fayos Antonio C. , G-Garcia Miguel E. , Peel Annabel , Blanco Acevedo Cristobal , Solivera Vela Juan , Ibanez Costa Alejandro , David Gahete Ortiz Manuel , Castano Justo P. , Luque Raul M.

Glioblastoma (GBM; grade IV astrocytoma) is the one of the most malignant and lethal endocrine-related cancers worldwide. Current standard treatment consists of surgery followed by radiotherapy and/or chemotherapy; however, this is only a palliative approach with a mean post-operative survival of scarcely ~12-15 months. Therefore, the identification of novel therapeutic targets to treat this devastating pathology is urgently needed. In this context, the truncated splicing-vari...

ea0081p133 | Endocrine-Related Cancer | ECE2022

Rapidly progressive cases of ectopic adrenocorticotropic hormone syndrome

Gonzalez Gracia Lucia , Lopez Gallardo Gema , Oulad Ahmed Bothayna , Dios Fuentes Elena , Beltran Romero Luis , Soto-Moreno Alfonso

Introduction: Adrenocorticotropic hormone (ACTH)-dependent Cushing’s syndrome (CS) secondary to an ectopic source is an uncommon condition, accounting for 4-5% of all cases of CS and between 9-18% of cases of ACTH-dependent CS. Although numerous malignancies have been associated with ectopic ACTH syndrome (EAS), lung neuroendocrine tumours (NETs) are the most common. Refractory hypokalemia can be the presenting feature in EAS and is seen in up to 80% of cases. We present ...

ea0081p378 | Endocrine-Related Cancer | ECE2022

Serial liquid biopsies - the NETest - in gastroenteropancreatic NET surveillance

van Treijen Mark , Korse Tiny , Verbeek Wieke , Tesselaar Margot , Valk Gerlof D.

Introduction: The variable tumor behavior in patients with gastro-entero-pancreatic neuroendocrine tumors (GEPNETs) is challenging. Current general biomarkers are insufficient to predict the disease course. An emerging biomarker is the NETest, a blood-based gene signature that can predict disease status based on the expression of genes involved in tumor biology. While promising, the accuracy and reproducibility of results in daily practice during years of follow up has never b...

ea0081p379 | Endocrine-Related Cancer | ECE2022

First case report of a natural killer T (NK/T) extranodal nasal lymphoma presenting as a diabetes insipidus

Alvarado Rosas Karol Almendra , Sacoto Valeria Gonzalez , Serrano Urzaiz Leticia , Lacarta Benitez Macarena , Contreras Pascual Cristina , Lopez Alaminos Maria Elena , Trincado Pablo , De Diego Garcia Patricia , Acha Perez Javier

A 52-year-old male patient with no past medical history of interest was admitted to our Endocrinology Unit with a clinical course developed in the last month of sudden polyuria, nocturia and polydipsia (8 liters/day) associated with bilateral low back and leg pain, a right-side nasal congestion with eye swelling and paresthesia. Physical examination revealed a doubtful thickening of the nasal mucosa and several two-cm- scattered erythematous disseminated skin lesions. Blood sa...

ea0081p380 | Endocrine-Related Cancer | ECE2022

Hormonal therapy in breast cancer patients and malignancy risk of thyroid nodules

Abegao Matias Alexandra , Bouca Bruno , Sabino Teresa , Bogalho Paula , Silva-Nunes Jose

Introduction: The bidirectional relationship of risk between breast cancer (BC) and thyroid cancer (TC) has been debated. Estrogens are proposed as agents implicated in the risk of developing TC promoting thyroid tumorigenesis. Therapies that reduce the effect of estrogens on their receptors in cancer cells are widely used.Objective: To correlate the use of hormonal therapy in BC with the prevalence of TC.Material and Methods: We p...

ea0081p381 | Endocrine-Related Cancer | ECE2022

A metastatic ACC mouse model: Combined inactivation of Znrf3 & Tp53 results in consistent adrenocortical carcinoma formation

Wilmouth James , Olabe Julie , Pucheu Laly , Florence Roucher , Rodrigues Cecily Lucas , Soubeyrand-Damon Christelle , Matthias Kroiss , Landwehr Laura-Sophie , Fassnacht Martin , Lefrancois-Martinez Anne-Marie , Martinez Antoine , Val Pierre

Adrenocortical carcinoma (ACC) is an infrequent and aggressive cancer that originates from steroidogenic cells within the adrenal cortex. Half of patients present with metastatic spread at initial diagnosis, and to date, there is no curative therapy for advanced disease. Recent genomic analysis has established that the most aggressive subgroup of ACC patients have overlapping alterations in the WNT/B-catenin pathway and the p53/RB pathway. We therefore set out to develop a met...

ea0081p382 | Endocrine-Related Cancer | ECE2022

Effect of metformin on the activity of the mTORC1 complex in patients with type 2 diabetes

Vatseba Tamara , Sokolova Liubov , Pushkarev Volodymyr , Pushkarev Viktor , Kovzun Olena , Tronko Mykola

Introduction: The increased risk of cancer in patients with diabetes mellitus (DM) creates an interest in finding mechanisms of the possible association of antidiabetic drugs and carcinogenesis. Metformin has the most documented evidence of pleiotropic oncoprotective effects, including increased stabilization of tumour suppressor p53, inhibition of NF-κB activation, slowing of the cell cycle and inhibition of mitosis due to decreased expression of cyclin D and cyclin E, a...

ea0081p383 | Endocrine-Related Cancer | ECE2022

Circulating cell-free tumour DNA (ctDNA) utilisation in diagnosis and monitoring of thyroid cancer response to treatment - systematic review

Al Jumaah Ali , Levy Miles J , Reddy Narendra , Bhake Ragini , Gohil Shailesh

Thyroid cancer is the most common endocrine malignancy accounting for 1% of new cancer cases each year. Even after treatment, one in five patients develop recurrence eventually. Therefore, close follow up is crucial after treatment. Current tumour biomarkers are not perfect, and there is a need for a more sensitive and specific way of detecting early recurrence. Liquid biopsies have emerged as a novel marker in tumour surveillance and monitoring response to treatment. In parti...

ea0081p384 | Endocrine-Related Cancer | ECE2022

Appendiceal neuroendocrine neoplasms diagnosed during pregnancy-case series and review of the literature

Twito Orit , Amit Akirov , Chava Rosenblum Rachel , Herzberg Dana , Oleinikov Kira , Pnina Rotman-Pikielny , Glasberg Simona

Introduction: Although appendicitis occurs in approximately 1:1000 pregnancies, appendiceal neuroendocrine neoplasm (ANEN) diagnosis during pregnancy is very rare. Data on presentation, treatment and prognosis is scarce.Aim: To describe ANEN cases diagnosed during pregnancy.Materials and Methods: A retrospective appraisal of 7 consecutive ANEN patients diagnosed during pregnancy from four Israeli tertiary medical centers and compar...

ea0081p385 | Endocrine-Related Cancer | ECE2022

PD-1 and PD-L1 immune checkpoint expression - the prognostic impact on adrenocortical carcinoma

Landwehr Laura-Sophie , Sbiera Iuliu , Altieri Barbara , Remde Hanna , Kircher Stefan , Sbiera Silviu , Kroiss Matthias , Fassnacht Martin

Adrenocortical carcinoma (ACC) is a very severe endocrine malignancy with poor prognosis. While cancer immunotherapies have revolutionized the treatment of several cancer entities, the results of initial studies of different immune checkpoint inhibitors in ACC were heterogeneous and clinically substantial responses were observed only in a subset of patients. Expression of immune checkpoint molecules - programmed cell death 1 (PD-1) and its ligand PD-L1 - has been shown to pred...

ea0081p386 | Endocrine-Related Cancer | ECE2022

Urinary steroid metabolomics for adrenocortical cancer diagnosis. Comparison of gas chromatography mass spectrometry to liquid chromatography mass spectrometry

Taylor Angela , Bancos Irina , Gilligan Lorna , van Veen Rick , Chortis Vasileios , Shaheen Fozia , Jenkinson Carl , O'Neil Donna M , Hughes Beverly , Hawley James M , Keevil Brian , Shackelton Cedric H L , Deeks Jonathan , Sitch Alice J , Biehl Michael , Arlt Wiebke

Introduction: Gas chromatography mass spectrometry (GC-MS) is the gold standard method for urinary steroid profiling. However, GC-MS requires chemical derivatisation, long run times, is labour intensive, expensive, and unsuitable for rapid multi-sample analysis, limiting its use in routine clinical practice. GC-MS urinary steroid metabolomics, the combination of steroid profiling and machine learning (Generalized Matrix Learning Vector Quantization) was shown to have superior ...

ea0081p387 | Endocrine-Related Cancer | ECE2022

Prognostic role of targeted methylation analysis in formalin-fixed paraffin-embedded samples of adrenocortical carcinoma

Lippert Juliane , Altieri Barbara , Morrison Breanna , Steinhauer Sonja , Smith Gabrielle , Lorey Antonia , Hanna Urlaub , Kircher Stefan , Sitch Alice J , Fassnacht Martin , Ronchi Cristina

Adrenocortical carcinoma (ACC) is a rare and aggressive endocrine neoplasia with heterogeneous molecular background and clinical outcome. Previous studies identified hypermethylation in specific genes to be associated with poor prognosis. Here, we aimed to investigate the role of methylation pattern for prognostic stratification of patients with ACC as compared to clinical parameters, using methods easily applicable in clinical routine. We investigated a total of 237 ACCs (96 ...

ea0081p388 | Endocrine-Related Cancer | ECE2022

Endocrine-metabolic disorders in patients with gastroenteropancreatic and lung neuroendocrine tumors

Zamponi Virginia , Mazzilli Rossella , Russo Flaminia , Mikovic Nevena , Rinzivillo Maria , Magi Ludovica , Trabalza Marinucci Beatrice , Siciliani Alessandra , Panzuto Francesco , Faggiano Antongiulio

Background: Neuroendocrine tumors (NETs) are characterized by long survival and slow progression. In the clinical practice adifferent types of endocrine-metabolic disorders can occur. Such disorders are either comorbidities related to the neoplasm or side effects of specific oncological treatments. The aim of this study is to evaluate type and prevalence of the endocrine-metabolic disorders in patients with gastroenteropancreatic (GEP) and lung NETs.Mate...

ea0081p389 | Endocrine-Related Cancer | ECE2022

Znrf3 inactivation leads to a sexually dimorphic immune microenvironment in adrenocortical tumorigenesis

Olabe Julie , James Wilmouth , Kaitlin Basham , Cecily Lucas , Florence Roucher-Boulez , Igor Tauveron , Anne-Marie Lefrancois-Martinez , Laura-Sophie Landwehr , Matthias Kroiss , Martin Fassnacht , Gary Hammer , Antoine Martinez , Pierre Val

Adrenocortical carcinoma (ACC) is a rare and aggressive cancer that originates from steroidogenic cells within the adrenal cortex. The most common alteration in ACC patients is inactivation of the transmembrane E3 ubiquitin-ligase Zinc and Ring Finger 3 (ZNRF3), which is responsible for inhibiting the canonical WNT/Beta-catenin pathway. Using Cre/loxP strategy, we showed that inactivation of Znrf3 in the adrenal cortex resulted in an initial hyperplasia by 6-weeks, af...

ea0081p390 | Endocrine-Related Cancer | ECE2022

Uncovering the immune profile in well-differentiated gastroenteropancreatic neuroendocrine tumors

Sesti Franz , Puliani Giulia , Sciarra Francesca , Feola Tiziana , Centello Roberta , Di Vito Valentina , Pandozzi Carla , Lenzi Andrea , Isidori Andrea , Venneri Mary Anna , Faggiano Antongiulio , Giannetta Elisa

Introduction: Immune tumor microenvironment plays a key role in tumors’ growth and metastatic spread, while its role in the heterogeneous field of neuroendocrine neoplasms (NENs) remains unclear. There is evidence that tumor progression in NENs is promoted by an immunosuppressed microenvironment created by a plethora of infiltrating immune cells. Changes in circulating leukocyte and peripheral blood mononuclear cell (PBMC) subpopulations can mirror the local alteration of...

ea0081p391 | Endocrine-Related Cancer | ECE2022

Effect of mitotane on male gonadal function

Innocenti Federica , Di Persio Sara , Taggi Marilena , Maggio Roberta , Lardo Pina , Elena Aloini Maria , Canipari Rita , Stigliano Antonio

Mitotane (MTT) currently represents the treatment of choice for adrenocortical carcinoma (ACC). Clinical evidence shows the occurrence of hypogonadism following treatment with this drug, observed more frequently in male patients. The aim of the study, therefore, was to evaluate the impact of MTT treatment on male gonadal function on adult CD1 mice. At the end of the 45 days of treatment, testes were collected for morphological examination, and a blood sample of each animal was...

ea0081p636 | Endocrine-Related Cancer | ECE2022

Struma ovarii with NIFTP tumor: case report

Osorio Ana Sofia , Fonseca Ricardo , Roque Catarina , Gasparinho Gabriela , Abrantes Sara

Struma ovarii is a form of mature teratoma, a rare germ cell tumor, containing more than 50% thyroid tissue. Malignancy is uncommon. Non-invasive follicular thyroid neoplasm with papillary-like nuclear features (NIFTP) inside struma ovarii was never described. A 32 y.o. female with previous history of ovarian cysts was admitted in the emergency room with painfull acute abdominal distention. The MRI revealed a right adnexal mass, predominantly cystic with 82x66x80 mm and surrou...

ea0081p637 | Endocrine-Related Cancer | ECE2022

Sporadic and Von Hippel-Lindau disease-related pancreatic neuroendocrine tumors definitions are not consistent between the various classification criteria

Halperin Reut , Eden-Friedman Yehudit , Arnon Liat , Tirosh Amit

Background: von Hipple-Lindau (VHL) disease comprises hemangioblastomas, renal cell carcinomas (RCC), pheochromocytomas, and pancreatic neuroendocrine tumors (PNET). Diagnosis is based International (two hemangioblastomas, one hemangioblastoma and one visceral lesion, or VHL family history and hemangioblastoma or visceral lesion) or Danish criteria (any two clinical manifestations, one clinical manifestation and family background of VHL or self-genetic diagnosis). The nature o...

ea0081p638 | Endocrine-Related Cancer | ECE2022

TKI related adverse events in patients with progressive and metastatic thyroid carcinoma: a retrospective analysis of our experience with cabozantinib during EXAM and EXAMINER clinical trial

Cappagli Virginia , Bottici Valeria , Viola David , Agate Laura , Molinaro Eleonora , Elisei Rossella

Background: Vandetanib and Cabozantinib are the only two multitarget tyrosine kinase inhibitors approved for the management of metastatic and progressive medullary thyroid cancer. (MTC) Despite their efficacy in terms of progression free survival prolongation and overall response rate, the drug-related toxicity is still a clinical problem, impairing patient’s quality of life and the compliance to the treatment. We retrospectively evaluate the adverse events (AEs) occurred...

ea0081p639 | Endocrine-Related Cancer | ECE2022

Does the length of a polyalanine tract in the FOXE1 gene impact the course of familial non-medullary thyroid cancer?

Domagała Bartosz , Koziara Michał , Trofimiuk-Muldner Malgorzata , Skalniak Anna , Hubalewska-Dydejczyk Alicja

Familial non-medullary thyroid cancer (FNMTC) constitutes about 3–9% of all thyroid cancers. One of the genes believed to predispose to non-syndromic FNMTC is FOXE1. It contains a polyalanine tract (polyAla) with a variable number (11 – 22) of alanine residues. This length polymorphism could lead to changes in the FOXE1-encoded protein (FOXE1 transcription factor) structure and predispose to papillary thyroid cancer (PTC). The aim of the st...

ea0081p640 | Endocrine-Related Cancer | ECE2022

Short fasting test as reliable and effective tool to diagnose insulinoma

Mikovic Nevena , Zamponi Virginia , Mazzilli Rossella , Russo Flaminia , fazzalari beatrice , Faggiano Antongiulio

Introduction: Insulinomas are rare pancreatic NETs presenting with chronic hypoglycaemia. Current guidelines for diagnosis require a prolonged fasting test (72 h), which implies hospitalization and is difficult to perform, delaying prompt diagnosis and treatment. It has been reported that 65 to 85% of insulinomas could be diagnosed after less of a 24h fasting period and 94 to 95.7% within 48h, although a shorter test for diagnosis has not yet been standardized.<p class="ab...

ea0081p641 | Endocrine-Related Cancer | ECE2022

Management and long term follow up of hyperparathyroidism in multiple endocrine neoplasia type 1: single center experience

Yavropoulou Maria , Vlachou Sofia , Tsoli Marina , Fostira Florentia , Kaltsas Gregory , Kassi Eva

Background and objective: Multiple Endocrine Neoplasia type 1 (MEN 1) is an autosomal dominant disease characterized by a broad clinical spectrum. Previous multi-center studies, that analyzed large groups of patients with MEN 1 have been reported before but long term follow up data of these patients focusing exclusively on primary hyperparathyroidism (PHPT) are scarce.Patients and Methods: In this retrospective cohort study we include all patients with P...

ea0081p642 | Endocrine-Related Cancer | ECE2022

Abstract Withdrawn...

ea0081p643 | Endocrine-Related Cancer | ECE2022

Thyroid cancer and thalassemia major: new hypotheses from an old clinical scenario

Poggi Maurizio , Samperi Irene , Monti Salvatore , motta cecilia , Pugliese Giuseppe

Thyroid cancer (TC) is one of the most frequent neoplasia diagnosed in general population with an estimated incidence of 6.6 cases per 100.000 and mortality of 0.43 cases per 100.000. Differentiated thyroid cancer (DTC), which includes papillary (PTC) and follicular cancer (FTC), comprises the large majority (up to 90%) of all thyroid cancer cases. At the moment etiology of TC is not completely understood, with multiple genetic and epigenetic factor that are thought to be impo...

ea0081p644 | Endocrine-Related Cancer | ECE2022

Sublethal hyperthermia decreases cellular proliferation and transiently disrupts steroidogenesis in adrenal cells

Mullen Nathan , Donlon Padraig , Duffy Katen , Feely Sarah , Warde Kate M , Sorushanova Anna , Prakash Punit , O'Halloran Martin , Dennedy Michael Conall

Introduction: Primary Aldosteronism is the most common cause of secondary hypertension. First-line treatment; adrenalectomy resects adrenal nodules and adjacent normal tissue, limiting suitability to those who present with unilateral disease. Use of thermal ablation represents an emerging approach as a possible minimally invasive therapy for unilateral and bilateral disease, to target and disrupt hypersecreting aldosterone producing adenomas, while preserving adjacent normal a...

ea0081p645 | Endocrine-Related Cancer | ECE2022

Abstract Withdrawn...

ea0081p646 | Endocrine-Related Cancer | ECE2022

Methodology of the SORENTO clinical trial: assessing the efficacy and safety of high exposure octreotide subcutaneous depot in patients with GEP-NETs

Ferone Diego , Capdevilla Jaume , Ang Chan Jennifer , de Herder Wouter W , Halperin Daniel , Mailman Josh , Singh Simron , Dorkhan Mozhgan , Hellstrom Lisa , Svedberg Agneta , Tiberg Fredrik

Background: Somatostatin receptor ligands (SRLs) are first-line standard-of-care therapies for gastroenteropancreatic neuroendocrine tumours (GEP-NETs), showing efficacy in tumour and symptom control with an established safety profile. However, disease progression may occur despite standard-dose SRL treatment, requiring more aggressive and toxic treatments. Retrospective/non-randomized data suggest higher-dose SRLs may benefit patients with GEP-NETs who do not respond to stand...

ea0081p647 | Endocrine-Related Cancer | ECE2022

Ectopic cushing’s syndrome due to thymic neuroendocrine tumour - a case report

Dzialach Lukasz , Wojciechowska-Luzniak Agnieszka , Migda Anna , Maksymowicz Maria , Witek Przemysław

Introduction: Ectopic Cushing’s syndrome (ECS) is a rare endocrine condition caused by corticotrophin (ACTH) hypersecretion of nonpituitary neoplasms. Thymic neuroendocrine tumours (NETs) account for about 5-10% of ECS cases, typically with aggressive clinical course.Case Report: A 31-year-old previously healthy female presented to the emergency department with a 3-week history of fatigue, muscle weakness, headaches and generalized swelling. Physica...

ea0081p648 | Endocrine-Related Cancer | ECE2022

Spliceosomic landscape across the histological subtypes of lung neuroendocrine neoplasms: a new layer to disentangle tumor Heterogeneity

Blazquez-Encinas Ricardo , Garcia Vioque Victor , Sexton-Oates Alexandra , Trinidad Moreno Montilla Maria , Alors-Perez Emilia , Mangili Federica , Alcala Nicolas , Foll Matthieu , Ibanez Costa Alejandro , Fernandez Cuesta Lynnette , Castano Justo P.

Lung neuroendocrine neoplasms (LungNENs) are highly heterogeneous tumors, which are classified by the WHO according to their histological grade into low grade: Typical Carcinoids (TC) and intermediate grade Atypical Carcinoids (AC), and high-grade: Large Cell Neuroendocrine Carcinoma (LCNEC) and Small Cell Lung Cancer (SCLC). Recently, a number of studies have tried to untangle the molecular features that define each subtype by applying different approaches, including genomic,...