ccfDNA analysis for the classification of adrenocortical adenomas

• Published in: Journal of endocrinological investigation Vol. 48; no. 5; pp. 1207 - 1216
• Main Authors: Xu, Mengjie, Tourigny, David S., Lippert, Juliane, Crastin, Ana, Appenzeller, Silke, Asia, Miriam, Podstawka, Oskar, Smith, Gabrielle, Elhassan, Yasir S., Skordilis, Kassiani, Prete, Alessandro, Ronchi, Cristina L.
• Format: Journal Article
• Language: English
• Published: Cham Springer International Publishing 01.05.2025; Springer Nature B.V
• Subjects: Adenoma; Adrenal Cortex Neoplasms - blood; Adrenal Cortex Neoplasms - classification; Adrenal Cortex Neoplasms - diagnosis; Adrenal Cortex Neoplasms - genetics; Adrenal Cortex Neoplasms - pathology; Adrenocortical Adenoma - blood; Adrenocortical Adenoma - classification; Adrenocortical Adenoma - diagnosis; Adrenocortical Adenoma - genetics; Adrenocortical Adenoma - pathology; Adult; Aged; Aldosterone; Biomarkers, Tumor - blood; Biomarkers, Tumor - genetics; Case-Control Studies; Cell-Free Nucleic Acids - blood; Cell-Free Nucleic Acids - genetics; Cortisol; Cushing syndrome; Cushing Syndrome - genetics; Endocrinology; Female; Follow-Up Studies; Hormones; Humans; Hydrocortisone - metabolism; Internal Medicine; Male; Medicine; Medicine & Public Health; Metabolic Diseases; Middle Aged; Mutation; NF-AT protein; Nucleotide sequence; Original; Original Article; Prognosis; T-DNA; Tumors; Circulating cell-free DNA; Liquid biopsy; Adrenocortical tumours; Next-generation sequencing; Primary aldosteronism; Cortisol excess

Background Somatic alterations are commonly observed in adrenocortical adenomas including cortisol-producing (CPA) [overt Cushing syndrome (CS) or mild autonomous cortisol secretion (MACS)], aldosterone-producing (APA), and non-functioning (NFAT) tumors. We tested whether somatic variants could be d...