Endocrine Abstracts

Background: Adrenocortical carcinoma (ACC) is a rare endocrine cancer. We aimed to develop machine learning (ML) models for predicting clinical outcomes of patients with ACC and deploy them as a web-based decision support tool. Methods: The S-GRAS dataset1 was used as a training cohort (n=942), while the COMBI dataset2 and new patients were used as a validation cohort (n=220). We used S-GRAS parameters previously d...

Background: Benign adrenal incidentalomas (AI) are found in 3-5% of adults. All patients should undergo a 1 mg -overnight dexamethasone suppression test (1 mg -DST) to exclude cortisol excess (non-functioning adrenal tumours, NFAT; serum cortisol ≤50 nmol/l) or diagnose possible mild autonomous cortisol secretion (MACS; serum cortisol >50 nmol/l). Current guidelines discourage repeating hormonal work-up in patients with benign AI. However, data underpinning this reco...

Background: Standard treatment for advanced adrenocortical carcinoma (ACC) is mitotane in monotherapy or combined with etoposide, doxorubicin and cisplatin (EDP), yet biomarkers predictive of treatment response are lacking. Inflammation-based scores were proposed as predictors for gemcitabine+capecitabine efficacy, used as second-line in progressive ACC. We investigated the role of inflammation-based scores in predicting response to first-line treatment in advanced ACC.<p ...

Background: The detection of phaeochromocytomas evolved from autopsy finding to presentation in symptomatic/hypertensive, and genetically-predisposed individuals. Increasingly, phaeochromocytomas are diagnosed in incidental adrenal masses and the impact on the clinical, biochemical, and radiological features is unclear.Methods: Retrospective review of patients with phaeochromocytomas seen at a large tertiary referral centre between January 2010 and May 2...

Background: Molecular mechanisms of malignant adrenocortical tumorigenesis remain elusive despite previous comprehensive genomic studies. Nonetheless, cellular heterogeneity of primary, recurrent and metastatic adrenocortical carcinoma (ACC) haven’t been fully investigated.Aim: To characterize the molecular profile of different cell subtypes in primary, recurrent and metastatic ACC by single-nuclei RNA sequencing (snRNA-Seq), using adult human norma...

Adrenocortical carcinoma (ACC) is a rare malignant tumour with heterogeneous outcome. Prognostic classification relies on individual clinical/histopathological parameters that have limited performance. Recent studies proposed the use of selected DNA-based biomarkers to improve prognostication of ACC. Aim of the study was to perform a comparative analysis of DNA-based biomarkers (BM) for prognostic assessment of ACC by evaluating their added value to the established prognostic ...

Background: Treatment for advanced adrenocortical carcinoma (ACC) consists of mitotane alone or combined with etoposide, doxorubicin and cisplatin (EDP), yet their efficacy is limited and burdened with significant toxicity. Moreover, markers of response are lacking. Inflammation-based scores have been proposed as prognostic factors in several malignancies including ACC, and recently also as predictors of gemcitabine+capecitabine efficacy, second-line treatment in progressive d...

Glucocorticoids play a significant role in immune modulation and regulation of inflammation. In patients with endogenous glucocorticoid excess (Cushing’s syndrome [CS]) multiple haematological alterations are recognized, such as neutrophil leukocytosis, lymphopenia, and eosinopenia, often leading to severe clinical complications. However, little is known in patients with mild autonomous cortisol secretion (MACS). Serum inflammation-based scores may reliably reflect system...

Background : Adrenocortical cancer (ACC) is a very rare but aggressive tumour with annual incidence of 2 cases per million populations. Hypercalcaemia is a commonly encountered paraneoplastic manifestation of certain cancers such as lung, breast, kidney, gynaecological and neuroendocrine tumours but very rare in ACC. So far, there are only two cases of ACC and PTHrP-related hypercalcaemia reported in the literature.Case report: 32-year-old man presented ...

Background: Adrenocortical carcinoma (ACC) is a rare aggressive cancer with limited treatment options for advanced stages. By targeted RNA expression screening, we identified polo-like kinase 1 (PLK1) as one of most overexpressed genes, thus representing a potential drug target for ACC. PLK1 inhibitors are under evaluation in clinical trials for other solid cancers and seem to be more effective in TP53 mutated tumours. The aim of the study was to evaluate PLK1 protein levels i...