Searchable abstracts of presentations at key conferences in endocrinology

ea0090p113 | Endocrine-related Cancer | ECE2023

In silico neoantigen prediction - a forceful avenue to improve immunotherapy in human adrenocortical carcinoma

Landwehr Laura-Sophie , Appenzeller Silke , Olsner Laura , Weigand Isabel , Sbiera Silviu , Fassnacht Martin , Kroiss Matthias

Introduction: Adrenocortical carcinoma (ACC) is one of the most aggressive endocrine malignancies and confers a poor prognosis in advanced stages. Effective treatments are lacking. The results of immune checkpoint inhibition were disappointing with few responders only deriving clinical benefit. For the development of novel immunotherapies such as tumor vaccines and T cell-based treatments, target identification is essential. Tumor-specific mutant neoantigens that may be recogn...

ea0070aep83 | Adrenal and Cardiovascular Endocrinology | ECE2020

JIL-O: Establishment of a new steroidogenic human adrenocortical carcinoma cell line

Landwehr Laura-Sophie , Jochen Schreiner , Herterich Sabine , Appenzeller Silke , Fassnacht Martin , Kroiss Matthias , Weigand Isabel

Adrenocortical carcinoma (ACC) is a rare malignancy with heterogeneous but dismal prognosis and despite numerous efforts to improve patient care, effective treatment options are still lacking. ACC in vitro research faces for decades one major obstacle - the unavailability of different ACC cell line models. Here, we present a newly established human ACC cell line that was directly transferred to and now proliferates in cell culture. JIL-O cell line was derived from a p...

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 ...

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±...

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...

ea0059oc4.1 | Clinical highlights | SFEBES2018

Targeted molecular analysis in adrenocortical carcinomas: a strategy towards improved personalized prognostication

Lippert Juliane , Appenzeller Silke , Liang Raimunde , Sbiera Silviu , Kircher Stefan , Altieri Barbara , Weigand Isabel , Riemens Renzo , Rosenwald Andreas , Kroiss Matthias , Rost Simone , Fassnacht Martin , Ronchi Cristina

Background: Adrenocortical carcinoma (ACC) has a heterogeneous prognosis and current medical therapies have limited efficacy in its advanced stages. Genome-wide multi-omics-studies identified molecular patterns associated with clinical outcome. Here, we aimed at identifying a molecular signature useful for both personalized prognostic stratification and druggable targets, using methods applicable in clinical routine.Methods: 117 tumor samples from 107 AC...

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...

ea0070yi3 | Young Investigators | ECE2020

RNA-sequencing of adrenocortical tumors reveals novel pathogenetic insights

Di Dalmazi Guido , Altieri Barbara , Scholz Claus , Sbiera Silviu , Luconi Michaela , Waldmann Jens , Kastelan Darko , Ceccato Filippo , Chiodini Iacopo , Arnaldi Giorgio , Osswald Andrea , Reincke Martin , Beuschlein Felix , Sauer Sascha , Fassnacht Martin , Appenzeller Silke , Ronchi Cristina

Background: Genetic alterations underlying the pathogenesis of autonomous cortisol secretion and early adrenocortical tumorigenesis have been identified in 40% of adrenocortical tumors (ACT). Nonetheless, the molecular events leading to development of ACT and steroid secretion remain obscure for a large proportion of patients.Aim: Aims of our study were to investigate the relationship between transcriptome profile and genetic background in a large series...

ea0056oc11.1 | Clinical practice in endocrine tumours: combining conventional and molecular features | ECE2018

Targeted molecular analysis in adrenocortical carcinomas: a way towards improved personalized prognostication

Lippert Juliane , Appenzeller Silke , Liang Raimunde , Sbiera Silviu , Kircher Stefan , Altieri Barbara , Nanda Indrajit , Weigand Isabel , Gehrig Andrea , Steinhauer Sonja , Mueller Clemens , Kroiss Matthias , Rost Simone , Rosenwald Andreas , Fassnacht Martin , Ronchi Cristina

Adrenocortical carcinoma (ACC) has heterogeneous prognosis and no effective targeted therapies. Pan-genomic studies identified complex molecular patterns related to outcome. Our study aimed at identification of an ‘easy-to-apply’ molecular signature for better personalized prognostic stratification. A total of 107 ACC patients were enrolled. Clinical/histopathological parameters of prognostic relevance were evaluated. Targeted molecular analysis was performed on DNA ...