Endocrine Abstracts

Background: Adrenocortical cancer (ACC) is an aggressive tumour with heterogeneous prognosis. Recently integrated genomics reported distinct genomic alterations: transcriptome “C1A” (high expression of proliferation/cell cycle-related genes) vs “C1B”, “CIMP” (CpG islands hypermethylation) vs “non-CIMP”, chromosome alterations “Noisy” (numerous and anarchic alterations) vs “Chromosomal” (extended patterns of loss of he...

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...

Introduction: Carney Complex (CNC) is a rare genetic syndrome, with multiple endocrine and non-endocrine neoplasia, mostly due to inactivating mutations of the PRKAR1A gene. CNC has a wide spectrum of manifestations : most frequently skin lesions, cardiac myxomas and primary pigmented nodular adrenocortical dysplasia (PPNAD), but also thyroid nodules, schwannomas, breast tumors (mainly myxoid fibroadenomas and ductal adenomas)… The present study was designed to ...

Introduction: Results of the first European real-world evidence from retrospective cohort of ACRONIS study previously confirmed the efficacy and tolerability of LA-PAS in heavily pre-treated, uncontrolled acromegaly patients. Here, we report results of the second interim analysis reflecting the prospective cohort.Methods: Patients who were treated with LA-PAS for ≥6 months were included in this analysis. The primary objective was to document treatm...

Introduction: The prognosis of stages III–IV ACC patients is dismal. The 5-year survival of stage IV ACC ranges between 0 and 13% and no prognostic study has focused on stage III, yet. Several reports suggest a greater heterogeneity of advanced ACC prognosis that initially thought.Aim: The primary objective of our study was to analyse the prognostic factors of overall survival of the subgroup of advanced unresectable stage III–IV ACC patients c...

Pheochromocytoma and paraganglioma are defined as malignant by the occurence of metastasis in extra paraganglionic sites. The natural evolution of these tumors remains unknown.The aim of our retrospective study was to define the progression-free survival (PFS) of untreated Malignant Pheochromocytoma and Paraganglioma (MPP) at 12 months (12 m-PFS) and to look for prognostic markers of 12 m-PFS. We analyzed clinical parameters of patients followed within 8...

Objective: To assess outcome of stage III–ENSAT adrenocortical carcinoma (ACC) patients after complete macroscopic resection and prognostic factors for disease-free survival (DFS) and overall survival (OS).Methods: A retrospective review of 68 stage III ACC patients treated surgically between 1994 and 2009 in the French COMETE network was performed. Characteristics of patients were reviewed by a single investigator as well as the Weiss score by expe...

Background: Patients with active Cushing’s syndrome (CS) have increased mortality.Aims: Evaluate cause of death in a large cohort of CS patients, and establish factors associated with increased mortality.Methods: We analysed 1514 patients included in the European Registry on Cushing’s syndrome (ERCUSYN): 1022 (68%) had pituitary-dependent CS (PIT-CS), 379 (25%) adrenal-dependent CS (ADR-CS), 71 (5%) had an ectopic source ...

IntroductionPrimary bilateral macronodular adrenal hyperplasia (PBMAH), the most common cause of adrenal Cushing’s syndrome due to bilateral adrenal tumors, is an heterogenous disease with various clinical, hormonal and morphological characteristics. ARMC5 inactivating mutations is the most frequent genetic cause of PBMAH and variants of PDE11A4 have been associated with the disease. In order to better understand the heterogeneity ...

BackgroundBenign adrenocortical tumours are found in 3–5% of adults and can be non-functioning (NFAT) or associated with cortisol excess. The latter group divides into patients with clinically overt signs (adrenal Cushing’s syndrome, CS) and patients lacking CS signs (mild autonomous cortisol excess, MACE). The 1 mg-overnight dexamethasone suppression test (DST) further differentiates MACE into MACE-1 (possible MACE; post-DST cortisol 50–1...