Searchable abstracts of presentations at key conferences in endocrinology

ea0049ep1439 | Thyroid (non-cancer) | ECE2017

A higher frequency of papillary thyroid carcinoma in myotonic dystrophy

Ben Hamou Adrien , Dhaenens Claire Marie , Espiard Stephanie , Benomar Kanza , Tiffreau Vincent , Caiazzo Robert , Aubert Sebastien , Vantyghem Marie Christine

Background and purpose: Type 1 myotonic dystrophy (MD), associates neuromuscular, cardiac, respiratory and endocrine disorders. The aim of this study was to determine the prevalence of thyroid disorders and of any causal factors.Methods: A retrospective single centre study was conducted, between 2000 and 2016, in 127 MD patients, diagnosed by familial genetic screening after informed consent. Clinical examination, TSH assay, 120-min glucose and insulin l...

ea0032p11 | Adrenal cortex | ECE2013

Molecular screening for personalized treatment approach in advanced adrenocortical cancer

De Martino Maria Cristina , Al Ghuzlan Abir , Do Cao Christine , Assie Guillaume , Scoazec Jean-Yves , Leboulleux Sophie , Aubert Sebastien , Libe Rossella , Nozieres Cecile , Pattou Francois , Borson-Chazot Francoise , Pivonello Rosario , Mazoyer Clement , Bertherat Jerome , Schlumberger Martin , Lacroix Ludovic , Baudin Eric

Propose: To screen for the presence of putative targets for new treatments in a large cohort of advanced adrenocortical cancer (ACC)Experimental design: In 40 adult stage III-IV ACC primary samples, we used comparative genomic hybridization (CGH) and hotspot gene sequencing (with Ion Torrent) to describe the presence of copy number abnormalities and mutations in more than 40 genes involved in cancer development and putative drug sensitivity (HER2; EGFR; ...

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 ...