Germline targeted next-generation sequencing in patients with adrenal incidentalomas
This study provides new insights into the germline genetic landscape of adrenal incidentalomas. Although GVs were identified in a minority of patients, their clinical significance remains unclear due to the predominance of VUS. These findings do not currently support widespread germline testing in routine clinical management of adrenal incidentalomas. Nevertheless, the detection of potentially pathogenic variants may inform future studies exploring their possible role in adrenal tumorigenesis.
Authors
- Massimo Terzolo (ORCID: https://orcid.org/0000-0002-4171-2851)
- Karin Zibar (ORCID: https://orcid.org/0000-0002-1694-6891)
- Giuseppe Reimondo (ORCID: https://orcid.org/0000-0001-9489-2094)
- Valentina Morelli
- Enrico Grosso (ORCID: https://orcid.org/0000-0002-6538-7395)
- Serena Palmieri (ORCID: https://orcid.org/0000-0002-1137-461X)
- Soraya Puglisi (ORCID: https://orcid.org/0000-0002-2883-6139)
- Anja Barač Nekić (ORCID: https://orcid.org/0000-0003-2672-8529)
- Ylenia Alessi
- Francesco Ferraù
- Erika Messina (ORCID: https://orcid.org/0009-0008-9981-3314)
- Pasquale Tomaiuolo (ORCID: https://orcid.org/0000-0002-1540-3924)
- Iacopo Chiodini (ORCID: https://orcid.org/0000-0001-7594-3300)
- Darko Kaštelan (ORCID: https://orcid.org/0000-0003-3034-5598)
- Alessia Inglesi (ORCID: https://orcid.org/0000-0002-0154-1445)
- Maria Scatolini (ORCID: https://orcid.org/0000-0003-1616-1151)
- Anna Pia
Institutions
- University of Messina (IT)
- University Hospital Centre Zagreb (HR)
- Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT)
- Ospedale Maggiore (IT)
- Azienda Socio Sanitaria Territoriale Grande Ospedale Metropolitano Niguarda (IT)
- Fondazione Edo ed Elvo Tempia (IT)
- IRCCS Istituto Auxologico Italiano (IT)
- Azienda Sanitaria Ospedaliera S.Croce e Carle Cuneo (IT)
- Ospedale San Luigi Gonzaga (IT)
Publication Details
- Journal
- Frontiers in Endocrinology
- Published
- 2025-10-02
- DOI
- https://doi.org/10.3389/fendo.2025.1685220
- Citations
- 1
- Primary Topic
- Adrenal and Paraganglionic Tumors
- Type
- article
- Field-Weighted Citation Impact
- 2.01
Funders
- Ministero dell’Istruzione, dell’Università e della Ricerca
- Associazione Italiana per la Ricerca sul Cancro