Searchable abstracts of presentations at key conferences in endocrinology

ea0070oc4.3 | Pituitary and Neuroendocrinology | ECE2020

Clinical implications of Pan-genomic classification of pituitary neuroendocrine tumours

Villa Chiara , Neou Mario , Armignacco Roberta , Anne Jouinot Anne , Raffin-Sanson Marie-Laure , Septier Amandine , Perlemoine Karine , Bernier Michèle , Baussart Bertrand , Bertherat Jerome , Gaillard Stéphan , Assié Guillaume

Recently, we provided the first integrated genomic classification of pituitary neuroendocrine tumors (PitNETs), on a series of 134 tumors. This series covered all histological, secretion, invasion and growth speed types. This molecular classification supports the importance of pituitary lineage as proposed by the World Health Organization 2017 classification, but also individualizes new entities. Indeed, corticotroph tumors are split into three distinct molecular groups. In ad...

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...