Searchable abstracts of presentations at key conferences in endocrinology

ea0035p533 | Endocrine tumours and neoplasia | ECE2014

High JAG1 expression in adrenocortical carcinomas is associated with better prognosis

Ronchi Cristina , Sbiera Silviu , Steinhauer Sonja , Scott-Wild Vanessa , Fassnacht Martin , Allolio Bruno

Background: Adrenocortical tumors consist of benign adenomas (ACA) and highly malignant carcinomas (ACC). Dysregulation of the Notch signalling pathway is implicated in several cancers with oncogenic or tumor suppressor functions. JAG1 is a Notch1 ligand of the Jagged family and a common target gene for Notch and Wnt/β catenin pathways. It has been reported that upregulated expression of JAG1 enhances cell proliferation in ACC.Material and methods: ...

ea0037oc9.5 | Adrenal 2 | ECE2015

The Notch ligand Jagged1 is up-regulated in adrenocortical carcinomas and is associated with a favourable clinical outcome

Ronchi Cristina , Sbiera Silviu , Altieri Barbara , Steinhauer Sonja , Wild Vanessa , Bekteshi Michaela , Kroiss Matthias , Fassnacht Martin , Allolio Bruno

Background: Adrenocortical tumours consist of frequent adrenocortical adenomas (ACA) and highly malignant (ACC) with a still incompletely understood pathogenesis. Dysregulation of Notch signalling pathway is implicated in several cancers with oncogenic or tumour suppressor functions. Copy number gains and over-expression of Jagged1, a ligand of Notch receptor, was reported in ACC. The aim of the study was to evaluate the expression of Jagged1 and other Notch-r...

ea0049oc1.1 | Adrenal-Basic & Clinical | ECE2017

High resolution tissue mass spectrometry imaging: a new tool for identification of prognostic markers in adrenocortical carcinoma

Kunzke Thomas , Sun Na , Sbiera Silviu , Wild Vanessa , Aichler Michaela , Ronchi Cristina , Schlegel Nicolas , Rosenwald Andreas , Fassnacht Martin , Walch Axel , Kroiss Matthias

Adrenocortical carcinoma (ACC) is an orphan tumor entity the pathogenesis of which is poorly understood. In advanced tumour stages, prognosis is unfavorable, but biomarkers for early diagnosis are lacking. MALDI-Mass Spectrometry Imaging (MALDI-MSI) enables semi-quantitative detection of a broad spectrum of analytes including endogenous cell metabolites in tissue sections. MALDI-MSI was used as a discovery approach to analyse tissue specimens of 72 ACC patients in FFPE tissue ...

ea0041gp116 | Endocrine Tumours | ECE2016

Differential expression of protein kinase A catalytic and regulatory subunits in adrenocortical adenomas

Weigand Isabel , Ronchi Cristina , Rizk-Rabin Marthe , Di Dalmazi Guido , Calebiro Davide , Wild Vanessa , Beuschlein Felix , Allolio Bruno , Bertherat Jerome , Fassnacht Martin , Sbiera Silviu

Background: Heterozygous activating somatic mutations in the catalytic subunit α (Cα) of Protein Kinase A (PKA) underlie 30–40% of cortisol producing adrenocortical adenomas (CPA). The activity of the catalytic subunits α,β,γ is controlled by the regulatory subunits (Iα,Iβ, IIα, IIβ). Previous reports found uncommonly reduced levels of RIIβ in CPA compared to other adrenocortical tumors.Aim: Investig...

ea0037ep1131 | Endocrine tumours | ECE2015

Inhibitor of apoptosis protein livin/BIRC7 in adrenocortical tumours

Altieri Barbara , Sbiera Silviu , Casa Silvia Della , Steinhauer Sonja , Wild Vanessa , Fadda Guido , Bekteshi Michaela , Rosenwald Andreas , Pontecorvi Alfredo , Fassnacht Martin , Allolio Bruno , Ronchi Cristina L

Introduction: Adrenocortical tumours comprise frequent adenomas (ACA) and rare highly malignant carcinoma (ACC). Livin/ML-IAP/BIRC7 is a member of the inhibitors of apoptosis proteins family, which are involved in tumorigenesis, mostly through the inhibition of caspase-3. Aim of the study was to evaluate the expression of livin/BIRC7 in normal and neoplastic adrenal glands.Methods: The mRNA expression of BIRC7, its isoforms livin α...

ea0073aep838 | Late Breaking | ECE2021

Consecutive development of adrenal Cushing´s syndrome and Cushing´s disease in a female patient with somatic CTNNB1, USP8, and NR3C1 mutations

Detomas Mario , Altieri Barbara , Schlötelburg Wiebke , Appenzeller Silke , Sven-Martin Schlaffer , Roland Coras , Andreas Schirbel , Wild Vanessa , Kroiss Matthias , Sbiera Silviu , Fassnacht Martin , Deutschbein Timo

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 ...

ea0075p13 | Pituitary and neuroendocrinology | EYES2021

Consecutive adrenal cushing´s syndrome and cushing´s disease in a patient with somatic CTNNB1, USP8, and NR3c1 mutations

Detomas Mario , Altieri Barbara , Schlotelburg Wiebke , Appenzeller Silke , Schlaffer Sven , Coras Roland , Schirbel Andreas , Wild Vanessa , Kroiss Matthias , Sbiera Silviu , Fassnacht Martin , Deutschbein Timo

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...

ea0049gp5 | Adrenal 1 | ECE2017

Protein Kinase A signaling saves regulatory subunit IIβ from PRKACA mutation-mediated degradation

Weigand Isabel , Bathon Kerstin , Ronchi Cristina , Rizk-Rabin Marthe , Di Dalmazi Guido , Wild Vanessa , Rubin Beatrice , Vanselow Jens T , Schlosser Andreas , Calebiro Davide , Beuschlein Felix , Bertherat Jerome , Fassnacht Martin , Sbiera Silviu

Protein Kinase A (PKA) consists of two catalytic and two regulatory subunits with several isoforms (Cα,β,γ, RIα,IIα,Iβ,IIβ). In 30–40% of cortisol-producing adrenocortical adenomas (CPA) heterozygous activating somatic mutations in the catalytic subunit α (Cα) of PKA have been found. Previous reports found strikingly reduced levels of RIIβ in CPA compared to other adrenocortical tumors. Here, we investigated the correlatio...