Endocrine Abstracts

Adrenocortical carcinoma (ACC) has heterogeneous prognosis and no effective targeted therapies. Pan-genomic studies identified complex molecular patterns related to outcome. Our study aimed at identification of an ‘easy-to-apply’ molecular signature for better personalized prognostic stratification. A total of 107 ACC patients were enrolled. Clinical/histopathological parameters of prognostic relevance were evaluated. Targeted molecular analysis was performed on DNA ...

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 ...

Introduction: Multiple endocrine neoplasia type 1 (MEN1) is a rare multitumour syndrome, characterized by the occurrence of parathyroid (PHPT), pituitary adenoma (PA) and pancreatic neuroendocrine tumors (pNETs). The gene responsible is MEN1 gene, however 10 to 20% of patients are not carriers of MEN1 mutation. Recently, a study has shown that these patients have less aggressive course of the disease, and more favorable life expectancy than their mutation-pos...

Introduction: Cushing’s disease (CD) is caused by pituitary tumors hypersecreting adrenocorticotropin (ACTH). Until now somatic mutations in the 14-3-3 binding domain of Ubiquitin Specific Peptidase 8 gene (USP8) were the only recurring, driver mutations and were described in about 40% of the 446 CD samples that have been analysed wordwide. We wanted to assess if other driver mutations might be the pathogenetic cause of CD in those tumors without USP8 mu...

Objective: Rathke’s Cleft Cyst (RCC) is a common incidental type of sellar lesion, and, depending on size, may cause local mass effects with visual impairment, hypopituitarism, and headaches. In this study, we sought to define the natural history of RCC.Methods: We performed a retrospective study of patients diagnosed with RCC between 2000 and 2016 at Stanford University Hospital, US, and Ospedale Maggiore Policlinico di Milano, Italy. Aim of the st...