Searchable abstracts of presentations at key conferences in endocrinology

ea0073pep3.1 | Presented ePosters 3: Pituitary and Neuroendocrinology | ECE2021

Genetic profiling of a cohort of Italian patients with ACTH-secreting pituitary tumors and characterization of a novel USP8 gene variant

Treppiedi Donatella , Barbieri Anna Maria , Muro Genesio Di , Marra Giusy , Mangili Federica , Catalano Rosa , Locatelli Marco , Spada Anna , Arosio Maura , Peverelli Erika , Mantovani Giovanna

CushingÂ’s Disease (CD) is a rare condition characterized by an overproduction of ACTH by an ACTH-secreting pituitary tumor resulting in excess of cortisol release by the adrenal glands. Somatic mutations in the deubiquitinases USP8 and USP48, and in BRAF genes, have been reported in a subset of patients affected by CD. Aim of this study was to characterize the genetic profile of a cohort of 66 patients with ACTH-secreting tumors, searching for somatic mutations in USP8, U...

ea0090oc7.5 | Oral Communications 7: Pituitary and Neuroendocrinology 2 | ECE2023

A novel filamin A-binding molecule may significantly enhance SST2 antitumoral actions in GH-secreting PitNET cells

Marra Giusy , Treppiedi Donatella , Muro Genesio Di , Mangili Federica , Catalano Rosa , Esposito Emanuela , Nozza Emma , Locatelli Marco , Lania Andrea , Sala Elisa , Ferrante Emanuele , Arosio Maura , H. Burns Lindsay , Mantovani Giovanna , Peverelli Erika

The main target of pharmacological therapy for growth hormone (GH)-secreting pituitary tumors (GH-PitNET) is the somatostatin receptor type 2 (SST2). However, approximately half of patients treated with octreotide, an SST2 agonist, show a low response rate or are octreotide-resistant. Here we present mechanistic data that shows co-treatment with simufilam, a novel oral therapeutic candidate, enhances sensitivity to octreotide. We previously showed that the cytoskeleton protein...

ea0090oc9.2 | Oral Communications 9: Adrenal and Cardiovascular Endocrinology 2 | ECE2023

FLNA-binding partner Wee1 as a new potential pharmacological target in adrenocortical carcinomas

Esposito Emanuela , Catalano Rosa , Nozza Emma , Barbieri Anna Maria , Maioli Sara , Albrecht Ernst Geginat Jens , Marra Giusy , Treppiedi Donatella , Muro Genesio Di , Mangili Federica , Hantel Costanze , Palmieri Serena , Frigerio Sofia , Ferrante Emanuele , Arosio Maura , Mantovani Giovanna , Peverelli Erika

The cytoskeletal actin-binding protein filamin A (FLNA) is poorly expressed in adrenocortical carcinomas (ACC) compared to adenomas (ACA), and this might contribute to sustain the increased cell proliferation by downregulating IGF1R expression and its downstream signaling. In mouse neural progenitor cells, increased protein expression levels of the CDK1 kinase Wee1 have been found after loss of FLNA. This protein has a leading role in regulating the G2-M checkpoint and functio...

ea0090rc7.1 | Rapid Communications 7: Pituitary and Neuroendocrinology 2 | ECE2023

Splicing factor 3B subunit 1 (SF3B1) role in PRL-secreting PitNETs

Mangili Federica , Muro Genesio Di , Arlati Federico , Barbieri Anna Maria , E. G-Garcia Miguel , Esposito Emanuela , Treppiedi Donatella , Catalano Rosa , Marra Giusy , Nozza E mma , Locatelli Marco , Lania Andrea , Ferrante Emanuele , Sala Elisa , P. Castano Justo , M. Luque Raul , Arosio Maura , Peverelli Erika , Mantovani Giovanna

Dopamine receptor type 2 (DRD2) represents the main target for pharmacological therapy with dopamine agonists (DAs) in PRL-secreting neuroendocrine pituitary tumors (PRL-PitNET), even if about 10% of patients is resistant. A single paper recently described a somatic mutation in the gene encoding splicing factor 3B subunit 1 (SF3B1) in about 20% of patients with PRL-PitNET, that was associated with PRL hypersecretion, increased cell proliferation and invasion and reduced progre...