Endocrine Abstracts

Objective: The Antiphospholipid Syndrome (APS) is a thrombophilic disorder characterised by recurrent venous and/or arterial thromboses and increased pregnancy morbidity. There is growing evidence supporting a functional interplay between the neuroendocrine and immune system; the hypothalamic-pituitary-adreal (HPA) axis plays a pivotal role in this network. Previous studies have described normal cortisol levels in APS patients while occurrence of acute adrenal failure was repo...

Objective: Seventeen patients (9 women, 8 men aged 36 years, 22–58) radically resected for ACC were treated with adjuvant mitotane and prospectically followed from 2000 to 2006.Methods: Stage of ACC: was: 1 stage I,; 12 stage II, 4 stage III; Weiss score 6, 3–9; Ki67% 20, 4–67. Eleven patients had functional tumors. Median duration of treatment was 15 months (range:4–84) and 14 patients are currently on mitotane, 2 died, 1 discontinue...

N363S polymorphism of the human glucocorticoid receptor gene has been detected in the heterozygous state in approximately 3–9% of general European population. This variant has been associated with increased sensitivity to glicocorticoids, increased insulin response to dexamethasone, a tendency towards lower bone mineral density, increased body mass index, and unstable angina. However, other reports found no associations with these pathological conditions. We assessed the ...

Background and objectives: The role of adjuvant mitotane therapy after radical surgery for adrenocortical carcinoma (ACC) is still debated. The aim of our study is to assess the effects of adjuvant mitotane on recurrence free survival (RFS) and overall survival (OS) in non-metastatic ACC patients and to evaluate prognostic factors in adjuvant setting.Methods: Retrospective data were collected from 152 patients affected by ACC (stage I-III) referred to ou...

Background: Adrenocortical carcinoma (ACC) is a rare cancer associated with hereditary syndromes in 10% of cases. However, data on germline variants (GVs) in adult patients with sporadic ACC are limited.Methods: We analyzed germline DNA from 150 adult patients with sporadic ACC sequentially referred to our centers between 1998-2019. We designed a custom panel of 17 genes potentially involved in the pathogenesis of ACC: AIP, APC, ARMC5, ARNT, BRCA1, BRCA2...

Adrenocortical cancer (ACC) is a rare aggressive malignancy, with poor prognosis when metastaic at diagnosis. Recent ACC pan-genomics analysis contributed to redefine the risk groups on molecular bases, including tumor micro RNA (miR), which can be detectable not only in the primary lesion but also in the bloodstream.We develop a quantitative real-time assay for the measurement of absolute levels in plasma samples of miR483 and its mature miR483-5p form....

Background: Adrenal masses are discovered in 5% of abdominal imaging scans. Work-up aims at exclusion of malignancy and hormone excess. However, estimates of these risks derive from retrospective studies only, mostly small and with significant selection bias.Methods: Prospective multi-centre study (2011–2016) in 14 centres (11 countries) of the European Network for the Study of Adrenal Tumours (ENSAT) with prospective consecutive enrolment of patien...

Mitotane, used in the treatment of adrenocortical cancer (ACC), is able to inhibit multiple enzymatic steps of adrenocortical steroid biosynthesis, potentially causing adrenal insufficiency (AI). Recent studies in vitro have also documented a direct inhibitory effect of mitotane at the pituitary level.The aim of the study was to assess the hypothalamic pituitary adrenal (HPA) axis in patients receiving mitotane as adjuvant treatment after radica...

Mitotane is the only approved drug for the treatment of advanced adrenocortical carcinoma (ACC) and we recently demonstrated that a high expression of cytochrome P450 2W1 (CYP2W1) correlated with response to mitotane. The association between CYP2W1 alleles and a generally increased cancer risk is under debate. Aim of the study was to evaluate the frequency of CYP2W1 polymorphisms and its correlation with the response to mitotane treatment in ACC patients.<p class="abstext"...

Background: Adrenal masses are discovered in 5% of cross-sectional abdominal imaging scans. Work-up aims at exclusion of malignancy and hormone excess. However, estimates of these risks presently derive from retrospective studies only, mostly small and with significant selection bias.Methods: Prospective multi-centre study (2011–2016) in 21 centres (17 countries) of the European Network for the Study of Adrenal Tumours (ENSAT) with consecutive enrol...