Germline targeted next-generation sequencing in patients with adrenal incidentalomas.

ABSTRACT:

Objective

Adrenal incidentalomas are commonly detected in clinical practice. Despite growing interest in their molecular features, their germline genetic background remains largely unexplored. This study investigated the presence and potential pathogenic role of germline variants (GVs) in these patients using a targeted next-generation sequencing (NGS) approach, and explored possible genotype-phenotype correlations.

Design

This multicenter retrospective study included 191 patients with incidentally discovered adrenal masses from four European reference centers. Patients with adrenocortical carcinoma, pheochromocytoma and primary aldosteronism were excluded.

Methods

Germline DNA was extracted from peripheral blood and analyzed using a custom next-generation sequencing

SUBMITTER: Messina E 

PROVIDER: S-EPMC12527831 | biostudies-literature | 2025

REPOSITORIES: biostudies-literature