RNA-Sequencing and Somatic Mutation Status of Adrenocortical Tumors: Novel Pathogenetic Insights

To investigate the relationship between transcriptome profile and genetic background in a large series of adrenocortical tumors and to identify new potential pathogenetic mechanisms, we performed transcriptome profiling by high-throughput sequencing. We collected snap-frozen tissue from patients with adrenocortical tumors (n = 59) with known genetic background: 26 adenomas with Cushing syndrome, 17 adenomas with mild autonomous cortisol secretion, 9 endocrine-inactive adenomas, 7 adrenocortical carcinomas. Additionally, we sequenced 4 control samples.

Type: Other
Archiver: European Genome-Phenome Archive (EGA)

1 Dataset 2 Publications

Click on a Dataset ID in the table below to learn more, and to find out who to contact about access to these data

Dataset ID	Description	Technology	Samples
EGAD00001006258	RNA paired end sequencing of 59 adrenocortical tumors and 4 controls.	NextSeq 500	63

Publications	Citations
Identifying New Potential Biomarkers in Adrenocortical Tumors Based on mRNA Expression Data Using Machine Learning. Marquardt A, Landwehr LS, Ronchi CL, di Dalmazi G, Riester A, Kollmannsberger P, Altieri B, Fassnacht M, Sbiera S. Cancers (Basel) 13: 2021 4671	9
Primary unilateral macronodular adrenal hyperplasia with concomitant glucocorticoid and androgen excess and KDM1A inactivation. Elhassan YS, Appenzeller S, Landwehr LS, Lippert J, Popat D, Gilligan LC, Abdi L, Goh E, Diaz-Cano S, Kircher S, Gramlich S, Sutcliffe RP, Thangaratinam S, Chan LF, Fassnacht M, Arlt W, Ronchi CL. Eur J Endocrinol 191: 2024 334-344	0