Searchable abstracts of presentations at key conferences in endocrinology

ea0016p424 | Neuroendocrinology | ECE2008

Midnight salivary cortisol (MSC) to assess the outcome of transsphenoidal surgery (TSS) in Cushing's disease (CD)

Carrasco Carmen , Coste Joel , Guignat Laurence , Dugue Marie-Annick , Gaillard Stephane , Bertagna Xavier , Bertherat Jerome

Introduction: MSC is a simple and reliable mean to diagnose hypercortisolism, yet its value to asses the outcome of treatment has rarely been addressed.Objective: Compare MSC and other classical parameters, to assess the outcome of TSS in CD.Patients and methods: Sixty-eight patients from a single Center operated for CD between 1996 and 2006. Outcome was assessed between 6–12 months post TSS. Remission was defined as: morning ...

ea0022h1.3 | Oral Communications Highlights 1 | ECE2010

ESE Young Investigator Award

Libe Rossella , Horvath Anelia , Fratticci Amato , Vezzosi Delphine , Coste Joel , Guillaud-Bataille Marine , Groussin Lionel , Clauser Eric , Sanson Marie Laure Raffin , Bertagna Xavier , Stratakis Constantine , Bertherat Jerome

Background: Cushing syndrome due to PPNAD is the main endocrine disorder of CNC, an autosomal dominant multiple neoplasia caused by germline inactivating mutations of the subunit type 1A (PRKAR1A) of the protein kinase A (PKA). In addition, germline inactivating mutations in the gene encoding phosphodiesterase 11A (PDE11A) have been identified in patients with PPNAD.Aim of the study: To investigate the role of PDE11A genetic alterati...

ea0016s14.3 | Basic highlights | ECE2008

Variants of the phosphodiesterase 11A (PDE11A4) gene and genetic predisposition to adrenocortical tumors (ACT)

Libe Rossella , Fratticci Amato , Coste Joel , Groussin Lionel , Horvath Anelia , Rene-Corail Fernande , Bertagna Xavier , Raffin Sanson Marie-Laure , Stratakis Constantine , Bertherat Jerome

Introduction: We have previously identified (using a whole-genome large scale SNP- screening approach) germline inactivating stop codon mutations of the PDE11A4 in patients with Cushing syndrome due to micronodular adrenal hyperplasia. PDE11A4 is a cAMP/cGMP phosphodiesterase.Aim of the study: To investigate the role of PDE11A genetic alterations in a large cohort of ACT.Materials and methods: Leukocyte DNA from 117 adrenocortical ...

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...

ea0056oc11.2 | Clinical practice in endocrine tumours: combining conventional and molecular features | ECE2018

Molecular classifiers refine the prognostic stratification of adrenocortical carcinoma

Jouinot Anne , Assie Guillaume , Fassnacht Martin , Libe Rossella , Garinet Simon , Jacob Louis , Faillot Simon , Hamzaoui Nadim , Neou Mario , Sakat Julien , Perlemoine Karine , Sibony Mathilde , Tissier Frederique , Dousset Bertrand , Sbiera Silviu , Ronchi Cristina , Kroiss Matthias , Korpershoek Esther , De Krijger Ronald , Waldmann Jens , Quinkler Marcus , Tabarin Antoine , Chabre Olivier , Coste Joel , Luconi Michaela , Mannelli Massimo , Groussin Lionel , Bertagna Xavier , Baudin Eric , Amar Laurence , Beuschlein Felix , Bertherat Jerome

Background: Adrenocortical cancer (ACC) is an aggressive tumour with heterogeneous prognosis. Pan-genomic studies identified molecular subgroups of ACC, remarkably associated with outcome. For routine prospective use, targeted molecular measures are needed, combined into reasonably easy and cheap techniques. The aim was to develop and validate different combinations of targeted molecular markers reflecting the molecular subgroup, and compare their prognostic value to standard ...