Searchable abstracts of presentations at key conferences in endocrinology

ea0081rc2.2 | Rapid Communications 2: Adrenal and Cardiovascular Endocrinology 1 | ECE2022

FKBP5 methylation in adrenal insufficiency: looking at a new tool for assessing the quality of glucocorticoid replacement?

Chifu Irina , Carolin Scheuermann , Stephanie Burger-Stritt , Lippert Juliane , Herterich Sabine , Hahner Stefanie

Available glucocorticoid (GC) replacement regimens in adrenal insufficiency (AI) only roughly correspond to physiological steroid profiles. Control of substitution quality is therefore difficult but significant, as even mild chronic over- or under-replacement may be clinically relevant. FKBP5 regulates GC receptor sensitivity by reducing its affinity to cortisol when bound to the receptor complex. FKBP5 methylation has been inversely correlated with cortisol levels both in hea...

ea0093oc8 | Oral communication 1: Adrenal Diseases | EYES2023

FKBP5 methylation in adrenal insufficiency: Looking at a new tool for assessing the quality of glucocorticoid replacement?

Chifu Irina , Richter Anna Lena , Scheuermann Carolin , Burger-Stritt Stephanie , Lippert Juliane , Herterich Sabine , Hahner Stefanie

Introduction: Glucocorticoid (GC) replacement regimens in adrenal insufficiency (AI) only roughly correspond to physiological steroid profiles. Moreover, control of substitution quality is difficult and signs of clinically relevant mild chronic over- or under-replacement might be omitted. FKBP5 regulates GC receptor sensitivity by reducing its affinity to cortisol when bound to the receptor complex. FKBP5 methylation has been inversely correlated with cortisol levels both in h...

ea0090rc5.5 | Rapid Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Clinical relevance of targeted sequencing in paraffin-embedded samples for prognostic classification of adrenocortical carcinoma

Lippert Juliane , Dischinger Ulrich , Appenzeller Silke , Prete Alessandro , Kircher Stefan , Skordilis Kassiani , Elhassan Yasir , Altieri Barbara , Fassnacht Martin , Ronchi Cristina

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 ...

ea0065p134 | Endocrine Neoplasia and Endocrine Consequences of Living with and Beyond Cancer | SFEBES2019

PLK1 inhibitors as potential new treatment for adrenocortical carcinoma

Smith Gabrielle , Liang Raimunde , Chortis Vasileios , Lippert Juliane , Hantel Constanze , Altieri Barbara , Fassnacht Martin , Foster Paul , Ronchi Cristina

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...

ea0077oc4.5 | Adrenal and Cardiovascular | SFEBES2021

Circulating cell-free DNA-based biomarkers as a tool for disease surveillance in adrenocortical carcinoma

Smith Gabrielle , Lippert Juliane , Altieri Barbara , Elhassan Yasir , Landwehr Laura , Prete Alessandro , Appenzeller Silke , Chortis Vasileios , Steinhauer Sonja , Asia Miriam , Sutcliffe Robert , Arlt Wiebke , Fassnacht Martin , Ronchi Cristina

Adrenocortical carcinoma (ACC) is a rare aggressive cancer with heterogeneous behaviour. Disease surveillance relies on frequent imaging, which comes with significant radiation exposure. Here we investigated the role of circulating cell-free DNA (ccfDNA) in ACC monitoring. We extracted ccfDNA from 1-4 ml EDTA-plasma using the Nonacus Cell3TMXtract or the Qiagen QIAamp MinElute kit and quantified by fluorimeter. We investigated 63 patients with ACC (25M/38F, 52±...

ea0077op2.3 | Adrenal and Cardiovascular | SFEBES2021

PLK1 inhibitors as a new targeted treatment for adrenocortical carcinoma

Warmington Emily , Smith Gabrielle , Chortis Vasileios , Khan Sana , Lippert Juliane , Hantel Constanze , Liang Raimunde , Kiseljak-Vassiliades Katja , Wierman Margaret , Altieri Barbara , Fassnacht Martin , Foster Paul , Ronchi Cristina

Adrenocortical carcinoma (ACC) is an aggressive malignancy with limited treatment options. We identified polo-like kinase 1 (PLK1) as one of the most overexpressed genes and potential drug target in ACC. PLK1 inhibitors (PLK1i) are under evaluation in clinical trials for other malignancies, being more effective in TP53-mutated tumours. Here we test PLK1i efficacy in four ACC cell lines with different genetic background. Efficacy of three PLK1i (i.e. Volaserti...

ea0081p387 | Endocrine-Related Cancer | ECE2022

Prognostic role of targeted methylation analysis in formalin-fixed paraffin-embedded samples of adrenocortical carcinoma

Lippert Juliane , Altieri Barbara , Morrison Breanna , Steinhauer Sonja , Smith Gabrielle , Lorey Antonia , Hanna Urlaub , Kircher Stefan , Sitch Alice J , Fassnacht Martin , Ronchi Cristina

Adrenocortical carcinoma (ACC) is a rare and aggressive endocrine neoplasia with heterogeneous molecular background and clinical outcome. Previous studies identified hypermethylation in specific genes to be associated with poor prognosis. Here, we aimed to investigate the role of methylation pattern for prognostic stratification of patients with ACC as compared to clinical parameters, using methods easily applicable in clinical routine. We investigated a total of 237 ACCs (96 ...

ea0086p25 | Adrenal and Cardiovascular | SFEBES2022

Coincidence of Primary Adrenocortical Carcinoma and Melanoma: Three Case Reports

Lynn Ko Ye , Kumar Vaishnavi , Lippert Juliane , Diaz-Cano Salvador , Skordilis Kassiani , Kimpel Otilia , Kircher Stefan , Asia Miriam , S. Elhassan Yasir , Altieri Barbara , L. Ronchi Cristina

Adrenocortical carcinoma (ACC) is a rare endocrine malignancy. ACC may rarely occur as part of familial cancer syndromes, but the majority of the cases occur sporadically. A significant proportion of sporadic ACC cases may be preceded by other malignancies and adrenal metastasis from these primary tumours may frequently occur. Herein we present three cases where sporadic ACC was identified in patients with coexistent or previous history of melanoma.Case ...

ea0063oc10.5 | Adrenal 2 | ECE2019

Cyclin dependent kinase 4 as promising drug target in adrenocortical carcinoma

Liang Raimunde , Weigand Isabel , Sbiera Silviu , Kircher Stefan , Lippert Juliane , Altieri Barbara , Steinhauer Sonja , Hantel Constanze , Rost Simone , Rosenwald Andreas , Kroiss Matthias , Fassnacht Martin , Ronchi Cristina

Adrenocortical carcinomas (ACC) are associated with heterogeneous prognosis and limited treatment options for advanced stages. Until now no efficient targeted therapies have been identified. This study aims to identify possible new molecular drug targets for a future personalized therapeutic approach. RNA was isolated from 40 formalin-fixed paraffin-embedded tumor samples from ACC patients (26F&14M, median age 46 yrs) with known genetic background (Lippert et al. JCEM ...

ea0049gp119 | Endocrine Tumours | ECE2017

Targeted molecular analysis in adrenocortical carcinomas: a way towards personalized medicine

Ronchi Cristina L , Lippert Juliane , Appenzeller Silke , Sbiera Silviu , Steinhauer Sonja , Liang Raimunde , Gehrig Andrea , Kroiss Matthias , Rost Simone , Rosenwald Andreas , Muller-Reible Clemens , Fassnacht Martin

Adrenocortical carcinoma (ACC) is a rare tumor with heterogeneous outcome and no available targeted therapy. The aim of the study is to identify prognostic molecular markers and novel potential drug targets.A total of 43 FFPE tumor samples were retrospectively investigated for somatic mutations and copy number variations (CNV) by next-generation sequencing (160 cancer-related genes, Qiagen). Gene expression was evaluated by quantitative RT-PCR in a subgr...