Rapid Communications 5: Adrenal and Cardiovascular Endocrinology 1

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

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ea0090rc5.2 | Rapid Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Analysis of germline mutations in patients with non-syndromic adrenocortical carcinoma

Terzolo Massimo , Grisanti Salvatore , Scatolini Maria , Tomaiuolo Pasquale , Grosso Enrico , Basile Vittoria , Cosentini Deborah , Puglisi Soraya , Lagana Marta , Perotti Paola , Rossini Elisa , Sigala Sandra , Volante Marco , Berruti Alfredo

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...

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ea0090rc5.3 | Rapid Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Study of somatic molecular heterogeneity in bilateral macronodular adrenocortical disease (BMAD) by NGS panel in a cohort of 26 patients

Violon Florian , Bouys Lucas , Gaetan Giannone , Vaduva Patricia , Perlemoine Karine , Berthon Annabel , Ragazzon Bruno , Sibony Mathilde , Bertherat Jerome

Introduction: Bilateral macronodular adrenal disease (BMAD) is a genetically heterogeneous disease that can be caused by ARMC5 or KDM1A alterations. Indeed, a germline and somatic event leading to a bi-allelic inactivation of ARMC5 or KDM1A are responsible for 20 and 1% of BMAD cases, respectively. Genetic analysis identified three molecular groups: ARMC5, KDM1A and no genetic cause known to date. Although there is a high h...

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ea0090rc5.4 | Rapid Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

Primary bilateral macronodular adrenal hyperplasia (PBMAH) is likely a genome instability disease due to ARMC5’s role in resolving transcription-replication conflict

Lao Linjiang , Bourdeau Isabelle , Gagliardi Lucia , He Xiao , Torpy David , Scott Hamish , Lacroix Andre , Luo Hongyu , Wu Jiangping

ARMC5 mutations are associated with PBMAH risks, but the ARMC5 action mechanism remains unknown. We discovered that ARMC5 was part of a novel ubiquitin ligase (E3) specific for RPB1, the largest Pol II subunit. ARMC5 deletion significantly reduced RPB1 ubiquitination and increased RPB1 accumulation. Surprisingly, the degradation of not only RPB1 but all the 12 subunits of Pol II was compromised in the absence of ARMC5, suggesting that this E3 acts on RPB1 and molecules in its ...

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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 ...

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ea0090rc5.6 | Rapid Communications 5: Adrenal and Cardiovascular Endocrinology 1 | ECE2023

IGF2R: a new player in the insulin-like growth factor 2 (IGF2) pathway sustaining adrenocortical carcinoma cells growth

Nozza Emma , Catalano Rosa , Esposito Emanuela , Barbieri Anna Maria , Marra Giusy , Treppiedi Donatella , Di muro Genesio , Mangili Federica , Constanze Hantel , Sigala Sandra , Palmieri Serena , Frigerio Sofia , Ferrante Emanuele , Arosio Maura , Mantovani Giovanna , Peverelli Erika

Adrenocortical carcinomas (ACC) are rare endocrine tumors that originate in the cortex of the adrenal gland. They are characterized by the overexpression of insulin-like growth factor 2 (IGF2), whose bond with two tyrosine-kinase receptors, IGF1R and IR, activates a cancer-promoting signalling cascade. Another component of the IGF system is mannose 6-phosphate/insulin-like growth factor 2 receptor (IGF2R), a scavenger receptor able to bind specifically IGF2. Its main role is t...

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Endocrine Abstracts

25th European Congress of Endocrinology