Searchable abstracts of presentations at key conferences in endocrinology
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25th European Congress of Endocrinology

Istanbul, Turkey
13 May 2023 - 16 May 2023

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ECE 2023 will be held in Istanbul, Turkey from 13-16 May 2023. Istanbul is known for its rich culture, historical sites and dynamic nightlife, and we are excited to come together in this city, and look forward to meeting old friends, making new ones, and sharing science, collaborations and ideas.

Poster Presentations

Endocrine-related Cancer

ea0090p106 | Endocrine-related Cancer | ECE2023

Ectopic Cushing syndrome due to a late metastatic recurrence of a salivary gland carcinoma: a new therapeutic approach

Claro Maria , Baste Neus , Casals Gregori , Sanchez Nuria , Mora Mireia , Alexandra Hanzu Felicia

Background: Acinic cell carcinoma of the parotid gland is a rare cancer, and metastatic (M1) disease is uncommon, occurring in around 10% of cases, with ectopic paraneoplastic Cushing being described in only few cases.Clinical case: A 58-year-old woman, with a history of dedifferentiated parotid acinar cell carcinoma, underwent surgery and adjuvant radiotherapy in 2005. In February 2019 the disease recurred with pulmonary, bone and lymph node metastases....

ea0090p107 | Endocrine-related Cancer | ECE2023

Congenital craniopharyngioma – Cases recruited in the German Kraniopharyngeom trials and review of the literature

Beckhaus Julia , Boekhoff Svenja , Bison Brigitte , Friedrich Carsten , Muller Hermann

Background: Craniopharyngiomas (CP) are rare malformational tumors. Clinical presentation and outcome of patients with congenital CP (cCP) are not clear and refer mainly to few case reports in the literature. The aim of this study was to analyze clinical presentation and outcome in patients with cCP.Clinical cases: Seven hundred and nine patients diagnosed with adamantinomatous CP were recruited 1999-2021 in HIT-ENDO, KRANIOPHARYNGEOM 2000 / 2007 / Regis...

ea0090p108 | Endocrine-related Cancer | ECE2023

Hypothalamic-pituitary endocrine surveillance among childhood and young-adult cancer survivors

Mamoojee Yaasir , Hossen Salman , Hassaan Pervez Muhammad

Introduction: Survivors of childhood, adolescent or young adult cancers are at risk of endocrine dysfunction from their tumours, surgery, chemotherapy and/or radiotherapy treatment. The hypothalamic pituitary axes and gonads are at risk of dysfunction depending on a number of risk factors. Endocrine dysfunction can occur from before diagnosis of cancer, soon after but mostly a number of years later, even after survivors have been discharged from oncology follow-up. We aim to e...

ea0090p109 | Endocrine-related Cancer | ECE2023

Clinical implications of splicing machinery alteration in Pheochromocytomas and Paragangliomas

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

Pheochromocytomas and paragangliomas (PPGL) are infrequent neuroendocrine neoplasms, which develop metastases or aggressive behaviour in 25 % patients. They can be classified into three clusters according to their molecular features; nevertheless, these differences may not stratify patients according to their prognosis. The dysregulation of the splicing process has emerged as a novel feature shared by most cancers, which is associated with an aggressive phenotype in several tu...

ea0090p110 | Endocrine-related Cancer | ECE2023

Should patients with incomplete microscopic resection of papillary thyroid carcinoma be classified as high-risk ones for the recurrence/persistent disease?

Kuchareczko Artur , Palyga Iwona , Walczyk Agnieszka , Gasior-Perczak Danuta , Kopczyński Janusz , Płachta Izabela , Chrapek Magdalena , Gozdz Stanislaw , Kowalska Aldona

Introduction: In recent years the growing rate of newly diagnosed papillary tyroid cancers (PTC) has been observed. Nowadays most of PTC are small (mostly <2cm in diameter) with no unfavourable patomorphological features, although the cases of incompletely resected PTC can still be encountered. Incomplete tumour resection, regardless of the presence of microscopic (R1) or macroscopic (R2) disease, after operation, is considered as a high-risk factor for PTC recurrence/pers...

ea0090p111 | Endocrine-related Cancer | ECE2023

Body composition of Patients with advanced Gastroenteropancreatic (GEP) Neuroendocrine Neoplasms (NENs) in Spain: Nutrigetne Study

Argente Pla Maria , Casteras Anna , Giribes Miguel , Anton Beatriz , Soledad Librizzi Maria , Custodio Carretero Ana , Palma Milla Samara , Suarez Gutierrez Lorena , Peiro Inmaculada , Serrano Urzaiz Leticia , Leon-Idougourram Soraya , Dieguez Felechosa Marta , Febrero Beatriz , Scorojanu Iulia , Antonio Pazos Toral Fernando , Biarnes Josefina , Pascual-Corrales Eider , Angel Dias-Perez Jose , Antonio Sampedro-Nunez Miguel , Angel Martinez Olmos Miguel , Mico Garcia Andrea , Isabel Del Olmo Garcia Maria

Introduction / Background: Patients with advanced GEP-NENs often present with metabolic disorders and oncological treatments may increase malnutrition risk as well as alterations on body composition. Several studies have suggested that sarcopenia is independently associated with a worse prognosis in oncological patients. Sarcopenia predicts survival regardless of body weight; moreover, a reduced muscle mass is not only observed in cachectic individuals but also in overweight p...

ea0090p112 | Endocrine-related Cancer | ECE2023

The involvement of endocannabinoid system in Multiple Endocrine Neoplasia type 1 (MEN1)

Aurilia Cinzia , Donati Simone , Palmini Gaia , Falsetti Irene , Galli Gianna , Zonefrati Roberto , Iantomasi Teresa , Luisa Brandi Maria

Background: Multiple endocrine neoplasia of type 1 (MEN1) is a rare heritable endocrine tumor syndrome that results from biallelic inactivation of the MEN1 gene and the loss of menin protein, that was characterized by a susceptibility to the development of multiple endocrine neoplasms within a single patient. The MEN1 gene screening is helpful in the clinical practice for early genetic diagnosis. Unfortunately, the lack of genotype-phenotype correlation doesn’t allow to f...

ea0090p113 | Endocrine-related Cancer | ECE2023

In silico neoantigen prediction - a forceful avenue to improve immunotherapy in human adrenocortical carcinoma

Landwehr Laura-Sophie , Appenzeller Silke , Olsner Laura , Weigand Isabel , Sbiera Silviu , Fassnacht Martin , Kroiss Matthias

Introduction: Adrenocortical carcinoma (ACC) is one of the most aggressive endocrine malignancies and confers a poor prognosis in advanced stages. Effective treatments are lacking. The results of immune checkpoint inhibition were disappointing with few responders only deriving clinical benefit. For the development of novel immunotherapies such as tumor vaccines and T cell-based treatments, target identification is essential. Tumor-specific mutant neoantigens that may be recogn...

ea0090p114 | Endocrine-related Cancer | ECE2023

Hyperandrogenism in menopause: whose fault?

Bonaventura Ilaria , Tomaselli Alessandra , Minnetti Marianna , De Alcubierre Dario , Tarantino Chiara , Cozzolino Alessia , Pofi Riccardo , Gianfrilli Daniele , Isidori Andrea , Pozza Carlotta

Background: Hyperandrogenism in postmenopausal women is extremely rare and requires exclusion of malignancy.Case reports: 1. A 65-year-old woman was referred to our Department of Endocrinology for appearance of hirsutism and alopecia for about 2 years. Abdomen-pelvis CT scan showed a 2-cm lesion (45 HU) at the left adrenal gland, confirmed by MRI scan, without loss of signal intensity in opposed-phase sequences. In addition, in the right ovary, a 3-cm le...

ea0090p115 | Endocrine-related Cancer | ECE2023

Hand-foot syndrome: a frequent but rarely severe adverse event in patients with thyroid cancer treated with lenvatinib

Minaldi Elisa , Cappagli Virginia , Giani Carlotta , Valerio Laura , Lorusso Loredana , Matrone Antonio , Gambale Carla , Prete Alessandro , Puleo Luciana , Bottici Valeria , Molinaro Eleonora , Agate Laura , Elisei Rossella

Introduction: Hand-foot syndrome (HFS), or palmo-plantar erythrodysplasia, is an adverse event related to lenvatinib therapy. In the clinical trial (SELECT study) HFS was reported in 32% of patients, but only 3% was grade ≥3. In real-life studies the frequency was variable: between 8 and 55%.Patients: We collected clinical and pathological data about 165 patients with thyroid cancer treated with lenvatinib, followed up between 2012 and 2022 at the ...

ea0090p116 | Endocrine-related Cancer | ECE2023

Impact of Gender on Treatment Decisions and Outcome in Patients with Neuroendocrine Neoplasms

Beck Julia , Siebenhuner Alexander , Wild Damian , Christ Emanuel , Refardt Julie

Introduction/Background: Gender differences affect the treatment of several diseases in both male and female patients. However, the influence of gender on treatment decisions and outcome in neuroendocrine neoplasms (NENs) has scarcely been investigated. Aims: Comparison of tumor characteristics, treatment decisions and outcome of patients with NENs, stratified by genderMaterial and Methods: Retrospective analysis of the SwissNET co...

ea0090p117 | Endocrine-related Cancer | ECE2023

Pivotal phase III COMPOSE trial to compare lutetium (177Lu) edotreotide with best standard of care in patients with well-differentiated aggressive grade 2 and grade 3 gastroenteropancreatic neuroendocrine tumors

Capdevila Jaume , Halperin Daniel , Reidy-Lagunes Diane , Kong Grace , R Halfdanarson Thorvardur , Mailman Josh , Herrmann Ken , Srirajaskanthan Rajaventhan , Thevenet Thomas , Harris Philip

Background: Gastroenteropancreatic neuroendocrine tumors (GEP-NETs) represent an estimated 70% of NETs. GEP-NETs frequently develop metastatic disease with limited treatment options. For well-differentiated high grade 2 and 3 GEP-NETs, current therapies include peptide receptor radionuclide therapy (PRRT), somatostatin analogues, chemotherapy, cytoreduction, and molecular targeted therapies (everolimus, sunitinib). PRRT uses radiolabeled somatostatin analogues to selectively t...

ea0090p118 | Endocrine-related Cancer | ECE2023

Survival, obesity and quality of life after childhood-onset craniopharyngioma: The role of age at diagnosis and hypothalamic damage

Beckhaus Julia , Friedrich Carsten , Boekhoff Svenja , Calaminus Gabriele , Bison Brigitte , Eveslage Maria , Timmermann Beate , Flitsch Jorg , Muller Hermann

Background: Adamantinomatous craniopharyngiomas (CP) are rare malformational tumors. The association between age at diagnosis and the outcome, clinical presentation and treatment of pediatric CP patients is not clear. The aim of this cohort study was to determine clinical presentation, outcome and quality of life in CP patients diagnosed at different AaD. Methods: Seven hundred and twenty-two patients diagnosed with CP were recruited 1999-2021 in HIT-End...

ea0090p119 | Endocrine-related Cancer | ECE2023

Improvement of Lung NET Management through standardized Care – a Swiss nationwide observational Study

Schmidlin Moira , Sadowski Samira , Siebenhuner Alexander , Wild Damian , Christ Emanuel , Refardt Julie

Introduction/ Background: Typical (TC) and atypical carcinoids (AC) are the most common neuroendocrine tumors (NETs) of the lung. Being a rare disease, the management of these tumors varies widely among Swiss centers. The impact of guidelines introduced in 2015 is unknown.Aims: Comparison of the management of Swiss patients before and after the publication of the expert consensus of the European Neuroendocrine Tumor Society (ENETS) in 2015.<p class="...

ea0090p120 | Endocrine-related Cancer | ECE2023

Risk of Bilateral Testicular Germ cell Tumors: a single center long-term experience

Tenuta Marta , Mazzotta Paola , Sesti Franz , Angelini Francesco , Di Vito Valentina , Gelibter Alain J. , Paoli Donatella , Gianfrilli Daniele , Isidori Andrea M. , Pozza Carlotta

Background: Bilateral testicular germ cell tumors (B-TCGT) are reported as rare findings (incidence 1-8%) and can be distinguish in synchronous (sB-TCGT) (recurrence within 3 months) and metachronous (mB-TCGT) (recurrence after 3 months). Risk factors of relapse are still underexplored. The aim of our study was to identify clinical, biochemical and radiological risk factors for the onset of a second tumor in a wide cohort of TGCT patients. Materials and ...

ea0090p121 | Endocrine-related Cancer | ECE2023

Thymic Neuroendocrine Tumor Presenting as Cushing’s Syndrome

Krausova Adela , Limanova Zdenka , Sedlačkova Eva , Schutzner Jan , Michalsky David , Hana Vaclav , Jiskra Jan

Introduction: Cushing’s syndrome (CS) is a rare disease with incidence estimated 2-4 cases per million inhabitants per year. ACTH-dependent forms comprise up to 80% of all cases, of which 80% are central and 20% are ectopic, paraneoplastic forms of ACTH-dependent CS. Thymic neuroendocrine tumors (NET) are accounting for 0,4 - 3% of all NET’s with incidence of 0.02/100 000 inhabitants/year. Up to one third of them are hormonally active (secrete adrenocorticotropic hor...

ea0090p122 | Endocrine-related Cancer | ECE2023

Early calcitonin levels in medullary thyroid carcinoma: prognostic role in patients without distant metastases at diagnosis

Sparano Clotilde , Adornato Virginia , Puccioni Matteo , Zago Elena , Maggi Mario , Petrone Luisa

Introduction: Calcitonin (CT) is the most specific marker for medullary thyroid carcinoma (MTC), thus, even low detectable values can conceal persistent disease. Current guidelines suggest performing an early CT evaluation three months after surgery. However, this timing may be too premature to evaluate the CT nadir, since different isoforms or aggregates from tumour deposits may persist in the bloodstream and require additional time to be cleared. The present study aimed to e...

ea0090p123 | Endocrine-related Cancer | ECE2023

Urea for treatment of hyponatremia in SIADH – an old treatment for a current problem

Santos Sara , Souteiro Pedro , Oliveira Joana , Inacio Isabel , P Santos Ana , Torres Isabel

Introduction: There are several endocrine causes of hyponatremia. SIADH is perhaps the most challenging, as patients do not always respond to initial correction measures and pharmacological treatment options are scarce. Urea is a viable option, but not commonly used.Methods: Analysis of patients with SIADH-induced hyponatremia (<135mEq/l) treated with urea per os in the Portuguese Institute of Oncology of Porto between August 2021 and Octobe...

ea0090p124 | Endocrine-related Cancer | ECE2023

Exploring the interplay of RNA methylation and alternative splicing machineries in lung carcinoids

Pedraza Arevalo Sergio , Ibanez Costa Alejandro , Garcia Vioque Victor , Blazquez Encinas Rey Ricardo , Trinidad Moreno Montilla Maria , Agraz-Doblas Antonio , Foll Matthieu , Fernandez-Cuesta Lynnette , P. Castano Justo

Lung carcinoids are slow-proliferating neuroendocrine neoplasms commonly showing low mutational burden but a high heterogeneity and difficult clinical management. Despite valuable advances in their molecular characterization, some aspects remain still unknown. Recent studies have shown that alternative splicing is severely dysregulated in lung carcinoids, where it could promote tumoral features. In contrast, the role of some molecular systems closely related to splicing and ot...

ea0090p125 | Endocrine-related Cancer | ECE2023

Audit of Incidence and Management Practices of Endocrinopathies due to Immunotherapy and introducing a new locally adapted Guidelines for better monitoring and Management

Solanki Amrita , Grumett Simon , N Buch Harit

Background: Immune related adverse events (iRAEs) of the endocrine system are commonly recognised in Checkpoint Inhibitor (CTLA-4 and PD-1 inhibitors) Therapy. Clinically, endocrinopathies can present with symptoms of hormone deficiency, hormone excess or both (in the same or different glands).Aim: Audit of Incidence and Management (detection, investigation, referral and management) practices of Endocrinopathies due to Immunotherapy in Oncology departmen...

ea0090p126 | Endocrine-related Cancer | ECE2023

Carcinoembryonic antigen role in the assessment of neuroendocrine tumors

Dobre Ramona , Florentina Burcea Iulia , Capatana Cristina , Poiana Catalina

Background: The importance of carcinoembryonic antigen (CEA) assessment in the evaluation of medullary thyroid carcinoma is well known. The role of CEA in the assessment of other neuroendocrine tumors (NET) is not clear. We aimed to evaluate a possible correlation between CEA measurements and the aggressivity of NETs.Methods: We evaluated 56 (36 women) NETs followed in a tertiary center (23 gastrointestinal, 12 pancreatic, 10 pulmonary, 7 without primary...

ea0090p378 | Endocrine-related Cancer | ECE2023

Severe ectopic Cushing syndrome in a transgender male with metastatic gastrinoma and adrenal tumor - a case report

Cylke-Falkowska Karolina , Wydra Arnika , Stelmachowska-Banaś Maria , Czajka-Oraniec Izabella , Kolasińska-Ćwikła Agnieszka , Ćwikła Jarosław , Zgliczyński Wojciech

Background: Gastrinoma is a functional neuroendocrine neoplasm (NEN) most commonly located in the duodenum (70%) and the pancreas (25%). The initial confirmation of NEN’s secretion profile does not exclude the possibility of a new hormonal activity of the tumor occurring in the course of the disease. Ectopic Cushing syndrome has been described in up to 5% of gastrinoma cases and hypercortisolemia may worsen the patient’s prognosis.Case presenta...

ea0090p379 | Endocrine-related Cancer | ECE2023

Association between diabetes mellitus and reduced efficacy of pembrolizumab in non-small cell lung cancer

Leshem Yasmin , Dolev Yardena , Siegelmann-Danieli Nava , Sharman Moser Sarah , Apter Lior , Chodick Gabriel , Nikolaevski-Berlin Alla , Shamai Sivan , Merimsky Ofer , Wolf Ido

Introduction: Type 2 diabetes mellitus (T2DM) and cancer commonly occur together, either because of direct association or merely as both diseases are common among the elderly. The presence of either T2DM itself, or its treatment may affect cancer progression outcomes and response to cancer therapy. Immune-checkpoint inhibitors (ICIs) have become the cornerstone of treatment of several malignancies, including non-small cell lung cancer (NSCLC). As T2DM has been shown to suppres...

ea0090p380 | Endocrine-related Cancer | ECE2023

Treatment of childhood-onset craniopharyngioma patients using proton beam therapy vs photon-based radiation therapy in the prospective Kraniopharyngeom 2007 trial

Friedrich Carsten , Boekhoff Svenja , Sowithayasakul Panjarat , Eveslage Maria , Beckhaus Julia , Bison Brigitte , Timmermann Beate , Muller Hermann

Background: Proton beam therapy (PBT) compared to photon-based radiotherapy (XRT) offers the benefit to administer lower radiation doses to critical organs thereby possibly minimizing the risk of sequelae in patients with residual craniopharyngiomas (CP) after hypothalamus-sparing surgery. The validation in large CP patient cohorts is still pending. Methods: Of 290 childhood-onset CP patients included 2007-2019 in the prospective multicenter trial Kranio...

ea0090p381 | Endocrine-related Cancer | ECE2023

Gender related differences in patients with carcinoid syndrome: new insights from a multicenter retrospective study

Grazia Tarsitano Maria , Altieri Barbara , Grossrubatscher Erika , Minotta Roberto , Zamponi Virginia , Albertelli Manuela , Appetecchia Marialuisa , Pia Brizzi Maria , Vittoria Davi Maria , Fanciulli Giuseppe , Giannetta Elisa , Guarnotta Valentina , La Salvia Anna , Lania Andrea , Lavezzi Elisabetta , Malandrino Pasqualino , Mazzilli Rossella , Modica Roberta , Pia Anna , Prinzi Natalie , Pusceddu Sara , Razzore Paula , Zanata Isabella , Chiara Zatelli Maria , Isidori Andrea , Maria Colao Anna , Faggiano Antongiulio , Maddalena Ruggeri Rosaria

The incidence of Neuroendocrine Neoplasm (NEN) and related carcinoid syndrome (CS) increased markedly in recent decades, and women appear to be more at risk than men. As per other tumors, gender may be relevant in influencing the clinical and prognostic characteristics. Unfortunately, there are no studies designed to answer this question in the literature. The present multicentric study was designed to evaluated gender differences, if any, in clinical presentation and outcomes...

ea0090p382 | Endocrine-related Cancer | ECE2023

Decision making, patient involvement and a rare form of thyroid cancer

Saqib Aaisha , Simo Ricard , Paul Carroll

In 2022, a 63 year old woman was referred for assessment of a six month history of gastro-oesophageal reflux symptoms and dysphagia. Upper gastrointestinal (GI) endoscopy was normal apart from mild reflux oesophagitis. A computerized tomography (CT) scan demonstrated a 2 cm nodule medial to the caudate lobe of the liver, a 1.5 cm nodule in the right lung base and two further sub cm nodules in the right lung lobe. In terms of background, the patient had a benign breast lump und...

ea0090p383 | Endocrine-related Cancer | ECE2023

MiR-191-5p represents a potential personalized diagnostic and therapeutic tool for PCa patients, especially in obesity conditions

Porcel-Pastrana Francisco , Herrero-Aguayo Vicente , Saez-Martinez Prudencio , M Jimenez-Vacas Juan , Perez Gomez Jesus , Montero-Hidalgo Antonio J. , Carrasco-Valiente Julia , Lopez-Miranda Jose , Anglada Francisco J. , Gomez-Gomez Enrique , Sarmento-Cabral Andre , Gahete Manuel D. , Luque Raul M.

Prostate cancer (PCa) is one of the most common causes of cancer-related deaths in men worldwide. Therefore, more specific non-invasive diagnostic biomarkers with potential therapeutic use are urgently needed. As miRNAs have been proposed as promising elements for the identification of novel diagnostic and therapeutic tools for different pathologies, including different cancer types, we investigated herein the miRNA landscape in PCa patients and explored their putative diagnos...

ea0090p384 | Endocrine-related Cancer | ECE2023

Impact of SSTR PET/CT imaging on the follow-up of pancreatic NET in MEN1

Kostiainen Iiro , Majala Susanna , Schildt Jukka , Parviainen Helka , Kauhanen Saila , Seppanen Hanna , Miettinen Paivi , Matikainen Niina , Ryhanen Eeva , Schalin-Jantti Camilla

Introduction: In multiple endocrine neoplasia 1 (MEN1), the decreased life expectancy is related especially to pancreatic neuroendocrine tumors (panNETs). Timely diagnosis of potentially aggressive panNETs is the cornerstone of the follow-up in MEN1. Somatostatin receptor positron emission tomography (SSTR PET/CT) has a high accuracy in the detection of neuroendocrine tumors. The role of this imaging modality in early diagnosis and follow-up of MEN1-related panNETs is unclear....

ea0090p385 | Endocrine-related Cancer | ECE2023

Characterization of telomerase/shelterin system in endocrine intracranial tumors at clinical, transcriptomic, and functional levels

G-Garcia Miguel E. , Flores-Martinez Alvaro , De la Rosa-Herencia Ana S. , Cano Gonzales David , Cardenas Eugenio , Solivera Juan , Gahete Manuel D. , Soto-Moreno Alfonso , Angeles Galvez-Moreno Maria , Fuentes-Fayos Antonio C. , M Luque Raul

Intracranial tumors (IT) comprise a heterogenous group of neoplasias (e.g., pituitary/brain tumors and craniopharyngiomas), characterized by difficult diagnosis based on MRI, challenging prognostic predictors and lack of effective therapeutic strategies. In addition, these tumors are usually associated with neurological disorders and severe comorbidities (e.g., those associated with Cushing syndrome, Acromegaly, etc.), worsening the quality life of patients. In this context, s...

ea0090p386 | Endocrine-related Cancer | ECE2023

Elderly Male with Multiple Endocrine Neoplasia Type 2A: A Diagnostic Journey

Vrckovnik Rok , Kocjan Tomaž

Background: Multiple endocrine neoplasia type 2A (MEN2A) is a rare genetic tumor syndrome due to germline mutations of the RET proto-oncogene, which is characterized by medullary thyroid cancer (MTC), pheochromocytoma (PHEO), and primary hyperparathyroidism (PHPT). The age at onset, aggressiveness of MTC, and the penetrance of other components depend on the genotype. Early prophylactic thyroidectomy and life-long screening for PHEO from childhood are recommended in most cases....

ea0090p387 | Endocrine-related Cancer | ECE2023

Don’t let your guard down – aggressive, hereditary paraganglioma associated with SDHD gene nonsense variant: c.33C>A (p.(Cys11Ter))

Szatko Alicja , Leszczynska Dorota , Woźniak Beata , Papierska Lucyna , Zgliczyński Wojciech , Glinicki Piotr

Introduction: Paragangliomas belong to the neuroendocrine tumours arising from autonomic nervous system. Various localizations, symptoms that can mimic a wide range of diseases and often unpredictable ability to metastasize are the reasons why paragangliomas pose a significant diagnostic challenge. More than one third of paragangliomas is associated with germline mutations –succinate dehydrogenase (SDH) subunit genes are among the most common susceptibility genes. SDHD wa...

ea0090p388 | Endocrine-related Cancer | ECE2023

PRRT 177Lu-DOTA-TATE in pancreatic neuroendocrine tumors – When to initiate?

Franco Sara , Lucena Sampaio Ines , Ferreira Goncalo , Barbosa Daniel , Gil-Santos Sara , Vara Luiz Henrique , Paula Santos Ana , Torres Isabel , Duarte Hugo

Introduction: The best timing for PRRT (peptide receptor radionuclide therapy) in the case of pancreatic neuroendocrine tumors (panNETs) is still to define, as randomized prospective trials are lacking. Recent studies suggest that some systemic therapies can affect response to PRRT, favoring an earlier use of the latter.Objective: To determine the efficacy and toxicity of PRRT, comparing its results when used as a second line systemic therapy (a...

ea0090p389 | Endocrine-related Cancer | ECE2023

Therapeutic potential of the splicing factor SRSF6 as a novel regulator of the Androgen Receptor in prostate cancer

Montero-Hidalgo Antonio J. , Gomez-Gomez Enrique , Saez-Martinez Prudencio , Fuentes-Fayos Antonio C. , Sanchez-Sanchez Rafael , Olmos David , Jesus Martinez-Fuentes Antonio , Sarmento-Cabral Andre , Gahete Manuel D. , Manuel Jimenez Vacas Juan , M Luque Raul

Background: Prostate cancer (PCa) is the fifth leading cause of cancer-related death worldwide. The main pharmacological strategy for this pathology is the blockade of the androgen receptor signalling pathway, commonly known as androgen-deprivation therapy. However, some of the patients does no longer respond to this hormonal therapy. Therefore, finding novel therapeutic strategies to tackle PCa, especially its most advanced phenotype [i.e., castration-resistant prostate cance...

ea0090p390 | Endocrine-related Cancer | ECE2023

Efficacity of combination of Lenvatinib and PPRT in severe hypersecretion of VIP

Raluca Mitru Natalia , Hadoux Julien , Lamartina Livia , Pani Fabiana , Baudin Eric , Moog Sophie

Introduction: VIPomas are rare neuroendocrine tumors (NET), usually located in the pancreas that secrete vasoactive intestinal polypeptide (VIP) leading to high-volume watery diarrhea and complications such as hypokalemia, acidosis and dehydration. The management of VIPoma symptoms is often challenging when surgical resection of all the lesions is not feasible. Treatments are then based on somatostatin analogs (SSA) and may also include hepatic chemoembolization, systemic chem...

ea0090p391 | Endocrine-related Cancer | ECE2023

Urinary free cortisol is an independent predictive factor for early distinction between ectopic ACTH secretion and pituitary Cushing’s disease

Raluca Furnica , Collard Alix , Frank Cornelis , Alexopoulou Orsalia , Maiter Dominique

Introduction: The poor prognosis of patients with Cushing’s syndrome due to ectopic ACTH secretion (ECS) requires prompt diagnosis and management of the disease. Objectives: To find clinical and biological differences between ECS and pituitary Cushing’s disease (CD) at diagnosis and to determine whether any of them may be a potential predictor for early suspicion of ECS. Methods: This was a retrospective case-nested study...

ea0090p392 | Endocrine-related Cancer | ECE2023

Influence of CaSR in testicular germ cell tumors

Hjerresen Jasmin , Gobel Nielsen Gustav , Hjorth Andreassen Christine , Juul Anders , Blomberg Jensen Martin

More than 90% of malignant testicular tumors arise in the germ cells and are denoted testicular germ cell tumors (TGCTs). TGCTs are one of the most common cancers among men between 15 to 40 years of age and arise from a common precursor cell, the germ cell neoplasia in situ (GCNIS), an arrested and transformed fetal gonocyte that become invasive after puberty. TGCTs are divided into seminomas and nonseminomas based on histology. Fortunately, TGTCs are highly sensitive to cispl...

ea0090p393 | Endocrine-related Cancer | ECE2023

Hypogonadism as a first manifestation of Poems Syndrome

Serisuelo Meneu Esther , Pla Peris Begona , Roxana Padilla Segura Mayet , Abellan Galiana Pablo , Franch Salvador Sara , Angel Merchante Alfaro Agustin

Introduction: Poems Syndrome is a rare multisystem disorder characterized by polyneuropathy, organomegaly, endocrinopathy, monoclonal plasma-proliferative disorder and skin changes, among other features. Literature describes endocrine abnormalities at least in 93% of patients with Poems Syndrome during the diagnosis as well as during the follow-up. The most common deficiencies ranked by their frequency are hypogonadism, hyperprolactinemia, hypothyroidism, abnormal glucose meta...

ea0090p394 | Endocrine-related Cancer | ECE2023

Investigating the risk of metabolic and cardiovascular comorbidities among patients with parathyroid cancer: a nationwide representative cohort study in Taiwan

Tsai Ming-Chieh , Chien Kuo-Liong , Tseng Po-Jung

Background: This study aimed to determine whether primary parathyroid cancer patients were associated with increased metabolic and cardiovascular comorbidities in comparison to the general populationMethod: We used the National Taiwan Cancer Registry Database to construct a cohort of patients with parathyroid cancer from January 1, 2004, to December 31, 2019. We compared the incidence of hypertension, diabetes mellitus, hyperlipidemia, atrial fibrillatio...

ea0090p395 | Endocrine-related Cancer | ECE2023

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ea0090p396 | Endocrine-related Cancer | ECE2023

Selective Arterial Calcium Stimulation Test In Two Cases With Occult Insulinoma

Baykal Gokhan , Evranos Ogmen Berna , Ozdemir Mustafa , Bostancı Birol , Burcak Polat Şefika , Topaloglu Oya , Ersoy Reyhan , Cakir Bekir

Introduction: Insulinoma is a rare neuroendocrine tumor that is difficult to diagnose due to its obscure location. Conventional radiographic methods have low sensitivity and are inadequate to detect insulinoma. Selective arterial calcium stimulation test (SACST) is 95–100% sensitive in the diagnosis of insulinomas. Here, we presented two cases of insulinoma that could not be located by radiographic methods and evaluated them with SACST.Case 1: A 48-...

ea0090p397 | Endocrine-related Cancer | ECE2023

Therapeutic Efficacy of the Combination of Braf and Mek Inhibitors in Erdheim-Chester Disease (EEC)

Azriel Sharona , Garcia Romero De Tejada Gema , Martin Borge Virginia

EEC is a multisystemic disease secondary to a clonal histiocyte proliferation of non-Langerhans cells due to hyperactivation of the MAPK/ERK signaling pathway, with somatic BRAF V600E mutation present in 50% of cases with therapeutic implications. Between 50% of patients develop endocrinopathies, the most frequent being central diabetes insipidus (CDI). We present the case of a 42-year-old woman, diagnosed with CDI in 1998 without family history, treated with DDAVP [MRI: absen...

ea0090p398 | Endocrine-related Cancer | ECE2023

Severe insulin secretion by an inoperable metastatic insulinoma can be controlled by 177-Lu-DOTA-TATE radionuclide therapy: a case report

Riley George , Creton Cecile , Demarquet Lea , Raymond Perrine , Chevalier Elodie , Lambert Aurelien , Guerci Bruno , Klein Marc , Scheyer Nicolas

Introduction: Metastatic insulinoma is an extremely rare form of malignant insulinoma involving metastatic growth where classical surgical treatment is often impossible. Medical therapies are widely considered and reserved for those especially with inoperable insulinoma with the goals of reducing tumor size, but also of reducing hypoglycemic events either by acting directly on the insulinoma cells (reducing excess insulin secretion from the insulinoma cells or reducing tumor v...

ea0090p651 | Endocrine-related Cancer | ECE2023

Impact of vascular invasion on otherwise low-risk papillary thyroid carcinomas: a retrospective and observational study

Marques Puga Francisca , Al Ghuzlan Abir , Hartl Dana M. , Bani Mohamed-Amine , Moog Sophie , Pani Fabiana , Breuskin Ingrid , Guerlain Joanne , Faron Matthieu , Denadreis Desiree , Baudin Eric , Hadoux Julien , Lamartina Livia

Background: Presence of venous vascular invasion is a criterion of intermediate risk of recurrence in papillary thyroid carcinoma (PTC). However, the presence and type of vascular invasion (lymphatic or venous) is often underreported and its impact on PTCs without other risk features remains unknown.Objective: To evaluate the impact of both lymphatic and venous invasion on the risk of recurrence/persistence on otherwise low-risk PTCs. <p class="abste...

ea0090p652 | Endocrine-related Cancer | ECE2023

Characterization of splicing machinery components in thyroid cancer and their correlation/association with tumour behaviour and clinical features

Di Caro Isidoro , Sarmento-Cabral Andre , E. G-Garcia Miguel , Martinez Vara Andrea , Maria Moyano-Sanchez Ana , Sanchez-Sanchez Rafael , Romero Lluch Ana , Santisteban Sanz Pilar , Navarro Gonzalez Elena , Angeles Galvez Moreno Maria , M. Luque Raul , Jesus Martinez-Fuentes Antonio

Emerging evidence indicates that the cellular machinery controlling the splicing process (spliceosome) is altered in several tumour types, leading to oncogenic splicing events associated with tumour progression and aggressiveness. However, whether this molecular phenomenon also occurs in thyroid cancer has not been yet explored. Therefore, our main aim was to explore the potential dysregulation of the expression of relevant spliceosome components and splicing factors in clinic...

ea0090p653 | Endocrine-related Cancer | ECE2023

Innate differences in the molecular signature of inferior and superior human parathyroid glands: potential implications for parathyroid adenoma

Agarwal Shipra , Kar Parmita , Boruah Monikongkhona , Saha Soma , Millo Tabin , Kumar Chitresh , Vuthaluru Seenu , Goswami Ravinder

Primary hyperparathyroidism (PHPT) is a common endocrine disorder characterised by hypercalcemia, skeletal fragility, and renal stones with majority (75%) of parathyroid tumours localized to the inferior parathyroid glands. The reasons for this natural bias are not known till date. A probable reason may be due to inherent differences in the molecular milieu of normal superior and inferior parathyroid glands. Such questions cannot be answered using superior and inferior parathy...

ea0090p654 | Endocrine-related Cancer | ECE2023

Intermediate-risk Differentiated Thyroid Cancer with Stimulated Thyroglobulin or N1b Needs High Adjuvant Radioactive Iodine Dose

Li Xue , Zheng Wei , Ji Yanhui , Sun Danyang , Wang Xuan

Background: There are no definite recommendations on the optimal dosage of initiating adjuvant radioactive iodine (RAI) therapy for intermediate-risk differentiated thyroid cancer (DTC) patients in current relevant guideline. This study aimed to investigate the response of intermediate-risk DTC patients with a low (3.7GBq) or high RAI dose (5.55GBq).Methods: Propensity score matching was performed to control for baseline characteristics. A total of 476 p...

ea0090p655 | Endocrine-related Cancer | ECE2023

Primary hyperparathyroidism. Parathyroid carcinoma (clinical case)

Nurgaliyeva Zhanar , Akhatay Dana , Kislenko Anatoly , Zhumadullaev Bahram , Baldairova Zhanar , Rahmatulla Ulmira , Zhylkybay Zhansaya

Introduction: A rare cause of hyperparathyroidism in pediatric is parathyroid carcinoma. The variety of clinical manifestations of hyperparathyroidism and the associated hypercalcemia slows down the verification of its primary nature. Material and methods: Medical records of an inpatient 13y.o child.Results: Child from 5 pregnancies, 1 delivery. Pregnancy was accompanied by endemic goiter. Delivery at 39-40weeks, physiological. Pre...

ea0090p656 | Endocrine-related Cancer | ECE2023

Management of NENs with SSTR2-antagonist: how close are we to a clinical solution? The first results of the TECANT study: Novel 99m-Tc-labelled somatostatin antagonists in the diagnostic algorithm of neuroendocrine neoplasms – a feasibility study

Hubalewska-Dydejczyk Alicja , Decristoforo Clemens , Kolenc Petra , Mikolajczak Renata , Ležaić Luka , Suden Andrej , Garnuszek Piotr , Simoncic Urban , Virgolini Irene , Trofimiuk-Muldner Malgorzata , Opalinska Marta , Rangger Christine , Glowa Boguslaw , Skorkiewicz Konrad , Fani Melpomeni , Sowa Staszczak Anna , Janota Barbara , Kroselj Marko , Zaletel Katja , Von Guggenberg Elisabeth

Introduction: The management of patients with neuroendocrine neoplasms (NEN) has been revolutionised since the introduction of radiolabelled somatostatin analogues targeting overexpressed somatostatin receptors (SSTR). Accurate assessment of SSTR status of primary focus/metastases is crucial to determine the choice of the treatment method. Recently it has been shown that novel molecular probes, SST2-antagonists, recognize more binding sites in comparison to the wide...

ea0090p657 | Endocrine-related Cancer | ECE2023

Novel insights to study the potential of the somatostatin system in NETs and NECs

Mangili Federica , Trinidad Moreno Montilla Maria , Garcia Vioque Victor , Pedraza-Arevalo Sergio , Blazquez Encinas Rey Ricardo , Mantovani Giovanna , Peverelli Erika , Schrader Joerg , Ibanez Costa Alejandro , Castano Justo P.

Neuroendocrine tumors (NETs) and carcinomas (NECs) are a heterogeneous group of malignances whose incidence is increasing worldwide. First-line approach is represented by surgery, whereas an effective pharmacological treatment for disseminated and relapsing disease is still needed. Somatostatin (SS) receptors (SSTs) constitute the main suitable pharmacological targets for NETs therapy with SS analogs (SSAs). Nevertheless, a large proportion of NETs and most NECs, are unrespons...

ea0090p658 | Endocrine-related Cancer | ECE2023

Cellular models of parathyroid carcinoma: preliminary results

Palmini Gaia , Marini Francesca , Giusti Francesca , Donati Simone , Aurilia Cinzia , Falsetti Irene , Zonefrati Roberto , Perigli Giuliano , Santoro Roberto , Nesi Gabriella , Luisa Brandi Maria

Parathyroid carcinoma (PC) is an extremely rare endocrine malignancy of the parathyroid glands, representing less than 1% of all parathyroid neoplasms. PC is characterized by an excessive secretion of parathyroid hormone (PTH) and severe hypercalcemia. In contrast to parathyroid adenoma, the prognosis for patients with PC is poor, with an overall survival rate of 78-85% and 49-70% respectively at 5 and 10 years after diagnosis, due to the commonly unmanageable hypercalcaemia, ...

ea0090p659 | Endocrine-related Cancer | ECE2023

Two cases of paraneoplastic hypoglycemia

Santos Sara , Calheiros Raquel , Oliveira Joana , Souteiro Pedro , Inacio Isabel , P Santos Ana , Torres Isabel

Introduction: Nonislet cell tumour hypoglycemia (NICTH) is a rare complication of malignancy. The most common cause is overproduction of IGF2, which activates insulin receptors, resulting in hypoinsulinemic hypoglycemia. When a solitary fibrous tumor is responsible, it is called Doege-Potter syndrome.Case 1: 58-year-old woman, with a history of gastrointestinal stromal tumor and pleural solitary fibrous tumor with pulmonary and lymph node metastases. She...

ea0090p660 | Endocrine-related Cancer | ECE2023

Increased frequency of breast cancer in young Carney Complex patients suggests a role for inactivation of the tumor suppressor gene PRKAR1A

Vaduva Patricia , Violon Florian , Anne Jouinot Anne , Bouys Lucas , Espiard Stephanie , Bonnet Fideline , North Marie-Odile , Catherine Cardot , Raverot Gerald , Sylvie Hieronimus , Lefebvre Herve , Nunes Marie-Laure , Tabarin Antoine , Groussin Lionel , Assie Guillaume , Sibony Mathilde , Christine Vantyghem Marie , Pasmant Eric , Bertherat Jerome

Objective: Carney Complex (CNC) is a rare hereditary genetic syndrome, mostly due to inactivating pathogenic variants of the tumor suppressor gene PRKAR1A. It has a wide spectrum of manifestations with frequent pigmented skin lesions, cardiac myxomas, primary pigmented nodular adrenocortical dysplasia, acromegaly and thyroid cancers. Breast benign tumors (fibroadenomas, ductal adenomas and myxoid lesions) have been associated with CNC, but so far, association with mal...

ea0090p661 | Endocrine-related Cancer | ECE2023

Revealing the anti-cancer region within KL1 subunit of the hormone klotho

Abboud Marana , Merenbakh-Lamin Keren , Ben-neriah Shira , rubinek tami , Wolf Ido

Background: Klotho is a 1012 amino acids transmembrane protein, composed of two internal repeats, KL1 and KL2, that can be cleaved, shed and act as a circulating hormone. Klotho regulates several pathways, including fibroblast growth factor 23 (FGF23), Wnt-β/catenin and the cation channels TRPV and TRPC. Our group and other labs identified klotho as a potent tumor suppressor in breast and pancreatic cancers and that KL1 domain is responsible for this activity. Yet, the me...

ea0090p662 | Endocrine-related Cancer | ECE2023

Vision-related Quality of Life in Patients with Childhood-onset craniopharyngioma – Results of HIT-Endo and KRANIOPHARYNGEOM 2000/2007

Sowithayasakul Panjarat , Boekhoff Svenja , Beckhaus Julia , Friedrich Carsten , Muller Hermann

Background: Quality of life (QoL) has become a critical component of therapeutic outcomes in the survivors of childhood-onset craniopharyngioma (CP). Visual deficiency adversely affects daily functioning and QoL in childhood CP. This cohort study aimed to report the vision-related QoL in CP patients. Methods: 120 patients with CP were included in this study and prospectively observed. The primary outcome measure was pediatric QoL (PEDQOL score) in patien...

ea0090p663 | Endocrine-related Cancer | ECE2023

High diagnostic yield of multigene panel testing in patients with endocrine tumors

Butz Henriett , Nagy Petra , Papp Janos , Bozsik Aniko , Grolmusz Vince , Pocza Timea , Patocs Attila

Hereditary genetic variants are common among patients with endocrine tumours. Some specific clinical conditions are informative for certain monogenic syndromes (i.e., Carney complex, MEN1, MEN2, von Hippel Lindau syndrome) but manifestations characteristic for these syndromes occur more commonly as apparently sporadic. Other tumours, i.e., pheochromocytoma/paragangliomas (PPGL) are linked to multiple genes, hence a multigene approach in molecular genetic testing strategy is re...

ea0090p664 | Endocrine-related Cancer | ECE2023

Mutational profiles of typical and atypical bronchial carcinoids

Gagliardi Irene , Borges de Souza Patricia , Rossi Lucrezia , Rosaria Ambrosio Maria , Chiara Zatelli Maria

Introduction: Typical and Atypical bronchial carcinoids (TBC and ABC) are rare neuroendocrine neoplasms (NEN). TBC are low grade and well-differentiated NEN often with indolent clinical behavior, slow growth, rare extra-thoracic metastases, and with a long survival following surgical resection. Conversely, ABC have often a worse prognosis with a greater tendency to metastasize and recur. A better understanding of TBC and ABC genetic background would help in evaluating prognosi...

ea0090p665 | Endocrine-related Cancer | ECE2023

A rare cause of bilateral adrenal masses

Santos Sara , Calheiros Raquel , Souteiro Pedro , Oliveira Joana , Inacio Isabel , P Santos Ana , Torres Isabel

Introduction: Bilateral adrenal masses may appear in the context of metastatic disease, adrenal congenital hyperplasia, primary tumors or infections, among others. Primary adrenal lymphoma is rare, accounting for approximately 1% of cases of non-Hodgkin lymphoma. Clinical case: 47-year-old woman, with a history of erythema nodosum and left hemithyroidectomy in the context of benign nodular disease. She presented with persistent fever and tiredne...

ea0090p666 | Endocrine-related Cancer | ECE2023

A rare case of immunotherapy related adrenalitis

Ganawa Shawg , Mashamba Chiedza , Ilyas Waqas , Higham Claire , Cooksley Tim , Hoong Ho Jan , Adam Safwaan , Dhage Shaishav

Introduction: Immunotherapy has transformed the outcomes of various cancers. Monoclonal antibodies against cytotoxic T lymphocyte antigen 4 (CTLA4), programmed cell death 1 (PD1) and its ligand, PDL1 target mainly T cells, unleashing the immune system against tumour cells. Immune checkpoint inhibitor therapy results in a variety of immune related adverse events, including various endocrinopathies. Thyroid disorders, pituitary disorders are relatively more common compared to pr...

ea0090p667 | Endocrine-related Cancer | ECE2023

Multidisciplinary Management of Paragangliomas in a Reference Unit Hospital in Spain

Isabel Del Olmo Garcia Maria , Prado Stephan , Palasi Rosana , Segura Angel , Llopez Ignacio , Ana Estornell Maria , Torres Alvaro , Garcia Albors Neus , Zac Romero Carlos , Ballesta Monica , Moreno Francisca , Balaguer Julia , Cortes Saez Jorge , Jose Villar Maria , Perez-Lazaro Antonia , Bello Pilar , Francisco Merino Torres Juan

Introduction: Paragangliomas and pheochromocytomas (PGGs) are infrequent tumors of the autonomic nervous system that represent a diagnostic and therapeutic challenge. Management and follow-up of PGGs requires specialized knowledge and solid experience, which, given the rarity of these diseases, is available only in highly specialized centers. University Hospital La Fe (Spain) was designated a reference unit on Neuroendocrine Tumors by local sanitary authorities in 2018. The ai...

ea0090p668 | Endocrine-related Cancer | ECE2023

MEN1 and Liposarcomas: Report of three cases

ISHIMWE Belyne , Pierre GOUDET , Verges Bruno

Introduction: Multiple endocrine neoplasia type 1 is a rare inherited tumor syndrome defined most frequently by the association of primary hyperparathyroidism, gastro-entero-pancreatic tract endocrine neoplasia and anterior pituitary gland adenoma and less commonly by neuroendocrine tumor of the adrenal cortex, thymus and bronchis. Association to non-endocrine tumors affecting the skin, glial cell, smooth muscle or breast cancer has been described. As far as we know, only one ...

ea0090p669 | Endocrine-related Cancer | ECE2023

Clinical findings, treatment modality and outcomes of adrenocortical carcinoma: a retrospective review of single tertiary center experience

Selek Alev , Koksalan Damla , Sozen Mehmet , Gezer Emre , Alkan Ozlem , Canturk Zeynep , Cetinarslan Berrin

Background & Aim: Adrenocortical carcinoma (ACC) is an extremely rare malignancy usually with poor outcomes, although the prognosis varies greatly depending on the initial tumor stage. Here we present clinical and outcome diversity of the patients in a single center.Methods: We retrospectively analyzed 16 patients with ACC diagnosed between 2000 and 2022. Demographical findings, hormonal status, radiological findings, ENSAT stage, weiss score and Ki6...

ea0090p670 | Endocrine-related Cancer | ECE2023

Incidental Metastases of Medullary Thyroid Carcinoma in a Patient with Multiple Endocrine Neoplasia Type

GARCIA ROMERO DE TEJADA GEMA , Martin Borge Virginia , Azriel Sharona , Garcia Sanchez Sagrario , Ortega Vazquez Irene , Jimenez Gordo Ana , Picardo Antonio , Antonio Balsa Barro Jose

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare hereditary tumour syndrome inherited in an autosomal dominant manner and characterized by a predisposition to a multitude of endocrine neoplasms primarily of parathyroid, enteropancreatic, and anterior pituitary origin, as well as nonendocrine neoplasms. However, thyroid cancer is not part of this syndrome. Case details: We report the case of a 36-year-old man diagnosed with primary hyper...