Searchable abstracts of presentations at key conferences in endocrinology

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...

ea0065op6.4 | Neuroendocrinology, Pituitary and Neoplasia | SFEBES2019

Urine steroid metabolomics as a novel diagnostic tool for recurrent adrenocortical carcinoma detection

Chortis Vasileios , Nijman Thomas , Bancos Irina , Gilligan Lorna C , Taylor Angela E , Ronchi Cristina L , O'Reilly Michael W , Schreiner Jochen , Asia Miriam , Riester Anna , Terzolo Massimo , Libe Rosella , Quinkler Marcus , Canu Letizia , Paiva Isabel , Bugalho Maria J , Kastelan Darko , Dennedy M Conall , Sherlock Mark , Ambroziak Urszula , Vassiliadi Dimitra , Bertherat Jerome , Beuschlein Felix , Fassnacht Martin , Deeks Jonathan J , Biehl Michael , Arlt Wiebke

Objective: Urine steroid metabolomics, combining mass spectrometry-based steroid profiling and machine learning, has been described as a novel diagnostic tool for detection of adrenocortical carcinoma (ACC). This proof-of-concept study evaluated the performance of urine steroid metabolomics as a tool for post-operative recurrence detection after microscopically complete (R0) resection of ACC.Methods: 135 ACC patients from 14 clinical centres provided pos...

ea0067o21 | Oral Presentations | EYES2019

Urine steroid metabolomics as a novel diagnostic tool for recurrent adrenocortical carcinoma detection

Chortis Vasileios , Bancos Irina , Nijman Thomas , Gilligan Lorna C , Taylor Angela E , Ronchi Cristina L , O'Reilly Michael W , Schreiner Jochen , Asia Miriam , Riester Anna , Terzolo Massimo , Libe Rosella , Quinkler Marcus , Canu Letizia , Paiva Isabel , Bugalho Maria J , Kastelan Darko , Dennedy M Conall , Sherlock Mark , Ambroziak Urszula , Vassiliadi Dimitra , Bertherat Jerome , Beuschlein Felix , Fassnacht Martin , Deeks Jonathan J , Biehl Michael , Arlt Wiebke

Objective: Urine steroid metabolomics, combining mass spectrometry-based steroid profiling and machine learning, has been described as a novel diagnostic tool for detection of adrenocortical carcinoma (ACC). This proof-of-concept study evaluated the performance of urine steroid metabolomics as a tool for post-operative recurrence detection after microscopically complete (R0) resection of ACC.Methods: 135 patients from 14 clinical centers provided post-op...

ea0063p433 | Adrenal and Neuroendocrine Tumours 2 | ECE2019

Molecular events in a large series of advanced stage III-IV adrenocortical cancer: looking for new therapeutic options

De Martino Maria Cristina , Lacroix Ludovic , Aubert Sebastien , Libe Rossella , Al Ghuzlan Abir , de la Fouchardiere Christelle , Hescot Segolene , Assie Guillaume , Honore Aurelie , Deschamps Fred , Lombes Marc , Borson-Chazot Francoise , Pattou Francois , Pivonello Rosario , Borget Isabelle , Schlumberger Martin , Leboulleux Sophie , Scoazec Jean-Yves , Bertherat Jerome , Cao Christine Do , Baudin Eric

Adrenocortical cancer (ACC) is a rare cancer with poor prognosis and scant treatment options.Purpose: To look for new therapeutic approaches issued from the screening for common genetic variants in a large series of advanced ACC.Experimental design: Whole exome sequencing have been performed in 10 advanced (stage III and IV) ACC samples to identify the recurrent variants. The presence and the frequency of most interesting variants ...

ea0063p1017 | Interdisciplinary Endocrinology 2 | ECE2019

Diagnosis announcement procedure in rare endocrine diseases: a survey of the French National Healthcare Network for Rare Endocrine Diseases (FIRENDO)

Layachi-Rahabi Haifa , Givony Maria , Demaret Beatrice , Brun Philippe , Aubron Marie-Reine , Bartes Beate , Bernard Lucie , Victor Amelie , Dujardin Veronique , Lancon Catherine , Perrotin Benedicte , Picard Virginie , Bouazza Naim , Abdoul Hendy , Malivoir Sabine , Ribeiro Murielle , Netchine Irene , Drui Delphine , Reynaud Rachel , Tardy Guidollet Veronique , Bertherat Jerome , Colin Claudine , Brue Thierry

Context: Diagnosis announcement of a chronic disease is a crucial moment for patients as well as for their families and an important step of the management of severe conditions like rare endocrine diseases. It is considered as an ‘eternal minute’, marking the end of a time of life when the disease was absent. Little is known on how diagnosis is communicated to patients and families. FIRENDO as defined by the National Plan for Rare Diseases aims at promoting education...

ea0063p1107 | Pituitary and Neuroendocrinology 3 | ECE2019

European observational study of ketoconazole for endogenous cushing’s syndrome in collaboration with European registry on cushing’s syndrome ERCUSYN: PASS ketoconazole study design and rationale

Bostnavaron Martine , Marsault Pauline , Arosio Maura , Bertherat Jerome , Brue Thierry , Chabre Olivier , Chanson Philippe , Duarte Joao Sequeira , Fajardo Carmen , Feelders Richard , Alexandra Hanzu Felicia , Kastelan Darko , Netea-Maier Romana , Newell-Price John , Pereira Alberto , Ragnarsson Oskar , Reincke Martin , Strasburger Christian , Tabarin Antoine , Touraine Philippe , Trainer Peter , Pal Aparna , Zopf Kathrin , Franz Holger , Stalla Gunter , Santos Alicia , Valassi Elena , Werner Sandy , Webb Susan

Introduction and rationale: Cushing’s syndrome (CS) is a rare disease with hypercortisolism caused either by ACTH excess from a pituitary or non-pituitary tumor or by an ACTH-independent primary adrenal overproduction of cortisol. It is associated with significant comorbidities potentially lethal: hypertension, diabetes, coagulopathy, cardiovascular disease, infections, and osteoporotic fractures. It is usually managed by surgery and/or medical treatment with steroidogene...

ea0049oc7.2 | Cardiovascular endocrinology (1) | ECE2017

Targeted molecular markers derived from genomic classification for adrenocortical cancer prognostication

Jouinot Anne , Assie Guillaume , Fassnacht Martin , Libe Rossella , Dousset Bertrand , Ronchi Silviu Sbiera Cristina , Kroiss Matthias , Korpershoek Esther , De Krijger Ronald , Waldmann Jens , Quinkler Marcus , Tabarin Antoine , Chabre Olivier , Luconi Michaela , Mannelli Massimo , Groussin Lionel , Baudin Eric , Amar Laurence , Beuschlein Felix , Bertherat Jerome

Background: Adrenocortical cancer (ACC) is an aggressive tumour with heterogeneous prognosis. Recently integrated genomics reported distinct genomic alterations: transcriptome “C1A” (high expression of proliferation/cell cycle-related genes) vs “C1B”, “CIMP” (CpG islands hypermethylation) vs “non-CIMP”, chromosome alterations “Noisy” (numerous and anarchic alterations) vs “Chromosomal” (extended patterns of loss of he...

ea0049gp160 | Neuroendocrinology & Growth Hormones | ECE2017

Somatic mutations in USP8 are frequent events in pituitary tumors causing Nelson’s syndrome

Perez-Rivas Luis G , Theodoropoulou Marily , Puar Troy H , Fazel Julia , Stieg Mareike R , Ferrau Francesco , Assie Guillaume , Gadelha Monica R , Deutschbein Timo , Fragoso Maria C , Kusters Benno , Korbonits Marta , Bertherat Jerome , Stalla Gunter K , Hermus Ad R , Beuschlein Felix , Reincke Martin

Recent studies have reported a high prevalence of USP8 mutations in corticotroph adenomas causing Cushing’s disease. Nelson’s syndrome is a potentially life-threatening complication of bilateral adrenalectomy in patients with refractory Cushing’s disease that is caused by the development of an ACTH-secreting tumor in the pituitary gland. Whether USP8 alterations are also present in Nelson’s tumors has not been studied in detail so far....

ea0041oc1.1 | Adrenal - Basic & Clinical | ECE2016

Genetic landscape of sporadic unilateral adrenocortical adenomas without PRKACA p.Leu206Arg mutation

Ronchi Cristina , Di Dalmazi Guido , Sbiera Silviu , Assie Guillaume , Weigand Isabel , Calebiro Davide , Appenzeller Silke , Rubin Beatrice , Waldmann Jens , Scaroni Carla , Bartsch Detlef , Mantero Franco , Mannelli Massimo , Kastelan darko , Chiodini Iacopo , Bertherat Jerome , Reincke Martin , Strom Tim , Fassnacht Martin , Beuschlein Felix

Genetic alterations affecting the PKA/cAMP pathway are commonly found in cortisol-producing adrenocortical adenomas (ACAs), while activating mutations in the gene coding for β-catenin (CTNNB1) have been reported in both adenomas and carcinomas. However, the molecular pathogenesis of most ACAs is still unclear. Aim of the study was a comprehensive genetic characterization of sporadic ACAs and the identification of novel molecular markers involved in adrenal tumori...

ea0041oc1.2 | Adrenal - Basic & Clinical | ECE2016

Focal DNA methylation measurement in adrenocortical carcinoma is a prognostic marker independent from tumor stage and Ki67; an ENSAT study

Assie Guillaume , Jouinot Anne , Libe Rossella , Fassnacht Martin , Sbiera Silviu , Ronchi Cristina , De Krijger Ronald , Waldmann Jens , Quinkler Marcus , Tabarin Antoine , Chabre Olivier , Mantero Franco , Mannelli Massimo , Kerlan Veronique , Groussin Lionel , Baudin Eric , Beuschlein Felix , Clauser Eric , Coste Joel , Bertherat Jerome

Recent pan-genomic analyses of tumor DNA identified specific patterns of DNA methylation –e.g. CpG islands hypermethylation in the promoter regions of genes- as pejorative prognostic markers in adrenocortical cancer (ACC). Integrated genomics clearly shows that ACC with such an hypermethylation belongs to specific subgroups of ACC with increased driver genes alterations and a poor survival.Aim: To confirm the prognostic value of this methylation pat...