Endocrine Abstracts

BackgroundThe ESE-ENSAT guidelines emphasize the role of local therapies and suggest radiotherapy (RT) as an individualized treatment in patients with advanced ACC. However, the evidence for this recommendation is very low. The aim of this study was to retrospectively investigate the efficacy and tolerance of radiation therapy in advanced ACC.MethodsWe screened all patients in five European reference centers ...

ContextThe occurrence of different subtypes of endogenous Cushing’s syndrome (CS) in single individuals is extremely rare. We here present the case of a female patient who was successfully cured from adrenal CS 4 years before being diagnosed with Cushing’s disease (CD).Case DescriptionA 50-year-old female was diagnosed with ACTH-independent CS and a left-sided adrenal adenoma in January 2015. After ...

Background: Primary bilateral macronodular adrenocortical hyperplasia (PBMAH) is a rare cause of ACTH-independent Cushing’s syndrome. The clinical application of adrenal venous sampling (AVS) in diagnostic work-up for PBMAH is still controversially discussed. AVS might be useful in evaluating the predominant side and guiding the decision for unilateral adrenalectomy in PBMAH.Objectives: Our aim was to evaluate whether certain metabolites in AVS samp...

Context: The occurrence of different subtypes of endogenous Cushing’s syndrome (CS) in single individuals is extremely rare. We here present the case of a female patient who was successfully cured from adrenal CS 4 years before being diagnosed with Cushing's disease (CD).Case Description: A 50-year-old female was diagnosed with ACTH-independent CS and a left-sided adrenal adenoma in January 2015. After adrenalectomy and histopathological co...

# These authors contributed equallyIntroduction: Adrenocortical carcinoma (ACC) is a rare and aggressive endocrine malignancy with poor prognosis and limited treatment options. In addition, ACC is characterized by endogenous glucocorticoid (GC) excess in 60% of cases which is hypothesized to be one reason, why first clinical trials evaluating the potency of immune checkpoint blockade showed only modest results. Here, we report the identificati...

Background: Adrenocortical carcinoma (ACC) is a rare and aggressive endocrine malignancy with poor prognosis and very limited treatment options in advanced disease. The only curative approach is complete surgical resection. Additionally, 60% of patients show endogenous glucocorticoid (GC) excess with clinical apparent hypercortisolism and low to no immune cell infiltration. To date, no therapeutically relevant surface markers are known for ACC, which is why it has not been con...

Adrenocortical carcinoma (ACC) is an infrequent and aggressive cancer that originates from steroidogenic cells within the adrenal cortex. Half of patients present with metastatic spread at initial diagnosis, and to date, there is no curative therapy for advanced disease. Recent genomic analysis has established that the most aggressive subgroup of ACC patients have overlapping alterations in the WNT/B-catenin pathway and the p53/RB pathway. We therefore set out to develop a met...

Adrenocortical carcinoma (ACC) is a rare and aggressive cancer that originates from steroidogenic cells within the adrenal cortex. The most common alteration in ACC patients is inactivation of the transmembrane E3 ubiquitin-ligase Zinc and Ring Finger 3 (ZNRF3), which is responsible for inhibiting the canonical WNT/Beta-catenin pathway. Using Cre/loxP strategy, we showed that inactivation of Znrf3 in the adrenal cortex resulted in an initial hyperplasia by 6-weeks, af...

Adrenocortical carcinoma (ACC) is a rare malignancy with limited treatment options and a heterogenous prognosis. The histological diagnosis of ACC is complex and there is increasing interest in identifying and validating new immunohistochemical markers. Delta-like non-canonical Notch ligand 1 (DLK1) is a cleavable single-pass transmembrane protein. In humans, DLK1 is present in many tissues during foetal development, is restricted to progenitor/stem cells in a few adult tissue...

Introduction: PBMAH is an heterogeneous disease from the clinical, hormonal, and morphological point of view. ARMC5 inactivating mutations have been reported as a cause of PBMAH. PDE11A4 variants have been associated with PBMAH and NR3C1 variants with bilateral adrenal incidentalomas.Aim: To analyse the frequency of ARMC5 pathogenic mutations and PDE11A4 and NR3C1 variants in PBMAH patients.<p cla...