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20th European Congress of Endocrinology

Barcelona, Spain
19 May 2018 - 22 May 2018

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ECE 2018, 19 - 22 May 2018; Barcelona, Spain

Oral Communications

Genomic and clinical aspects of endocrine tumours

ea0056oc7.1 | Genomic and clinical aspects of endocrine tumours | ECE2018

Molecular classification of benign adrenocortical tumors: an integrated genomic study

Faillot Simon , Neou Mario , Espiard Stephanie , Vaczlavik Anna , Garinet Simon , Luscap-Rondof Windy , Jouinot Anne , Drougat Ludivine , Groussin Lionel , Perlemoine Karine , Rene-Corail Fernande , Ragazzon Bruno , Rizk-Rabin Marthe , Libe Rossella , Tissier Frederique , De Reynies Aurelien , Bertherat Jerome , Assie Guillaume

Benign adrenal tumors correspond to a spectrum of distinct tumors, including uni- and bilateral diseases with distinct morphological features, and various steroid hormone secretion types and levels. The aim is to study this variability at the molecular level using pan-genomic approaches.Methods: One hundred and forty six benign adrenal tumors, including adrenocortical adenomas (ACA, N=), primary macronodular adrenal hyperplasia (PMAH, N=), and primary pi...

ea0056oc7.2 | Genomic and clinical aspects of endocrine tumours | ECE2018

Urine steroid metabolomics as a diagnostic tool for detection of adrenocortical malignancy – a prospective test validation study

Bancos Irina , Taylor Angela , Chortis Vasileios , Sitch Alice , Lang Katharina , Prete Alessandro , Terzolo Massimo , Fassnacht Martin , Quinkler Marcus , Kastelan Darko , Vassiliadi Dimitra , Beauschlein Felix , Ambroziak Urszula , Biehl Michael , Deeks Jonathan , Arlt Wiebke

Background: Adrenal masses are discovered in 5% of abdominal imaging scans. Accuracy of currently available imaging tests to diagnose malignancy is poor. In a proof-of-concept study (JCE&M 2011;96(12):3775-84), we had demonstrated 90% sensitivity and specificity in detecting adrenocortical carcinoma (ACC) for urine steroid metabolomics, the combination of mass spectrometry-based steroid profiling and machine learning-based data analysis. This diagnostic performance is supe...

ea0056oc7.3 | Genomic and clinical aspects of endocrine tumours | ECE2018

LncRNAs profiling reveals epigenetic heterogeneity among human parathyroid tumor

Morotti Annamaria , Verdelli Chiara , Guarnieri Vito , Cetani Filomena , Silipigni Rosa , Guerneri Silvana , Scillitani Alfredo , Vicentini Leonardo , Beretta Edoardo , Vaira Valentina , Corbetta Sabrina

Long noncoding RNAs (LncRNAs) are transcripts of more than 200 nucleotides not translated into proteins. They carry out diverse functions, including transcriptional regulation in cis or trans, organization of nuclear domains, and regulation of proteins or RNA molecules. Aberrant expression of LncRNAs has been reported in human cancers; indeed, data in parathyroid tumors are lacking. Based on the profiling through lncProfilersTM qPCR Array with SYBR...

ea0056oc7.4 | Genomic and clinical aspects of endocrine tumours | ECE2018

Germline mutations in the mitochondrial 2-oxoglutarate/malate carrier (SLC25A11) gene confer predisposition to metastatic paragangliomas

Buffet Alexandre , Morin Aurelie , Castro-Vega Luis-Jaime , Habarou Florence , Lussey-Lepoutre Charlotte , Letouze Eric , Lefebvre Herve , Guilhem Isabelle , Haissaguerre Magalie , Raingeard Isabelle , Padilla-Girola Mathilde , Tran Thi , Tchara Lucien , Bertherat Jerome , Amar Laurence , Ottolenghi Chris , Burnichon Nelly , Gimenez-Roqueplo Anne-Paule , Favier Judith

Integrative genomics studies of paragangliomas (PGL) have shown that PGL susceptibility genes are the main drivers of tumorigenesis. Comprehensive genetic analyses have identified germline SDHB and, to a lesser extent, FH gene mutations, as predominant causes of metastatic PGL. However, some suspicious cases remain unexplained. We performed whole-exome sequencing of a paraganglioma exhibiting an SDHx-like molecular profile in the absence of SDHx<...

ea0056oc7.5 | Genomic and clinical aspects of endocrine tumours | ECE2018

Randomized trial comparing phenoxybenzamine and doxazosine for preoperative treatment of patients with a pheochromocytoma (PRESCRIPT)

Buitenwerf E , Osinga TE , Timmers HJLM , Lenders JWM , Feelders RA , Eekhoff EMW , Haak HR , Corssmit EPM , Bisschop PHLT , Valk GD , GrooteVeldman R , Dullaart RPF , Links TP , Voogd MF , Wietasch JKG , Kerstens MN

Background: Administration of α-adrenergic receptor antagonists is recommended before resection of a pheochromocytoma (PCC) in order to prevent perioperative cardiovascular complications. For this purpose either phenoxybenzamine (PXB) or doxazosin (DOX) is commonly prescribed. We conducted the first randomized controlled trial comparing the efficacy of PXB and DOX in controlling perioperative hemodynamics in patients undergoing PCC resection (ClinicalTrials.gov:NCT0137989...