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Integrated genomic characterization of adrenocortical carcinoma

Adrenocortical carcinomas (ACC) are aggressive cancers originating in the cortex of the adrenal glands. Despite the overall poor prognosis, ACC outcome is heterogeneous. CTNNB1 and TP53 mutations are frequent in these tumors, but the complete spectrum of genetic changes remains undefined. Exome sequencing and SNP array analysis of 45 ACC revealed recurrent alterations in known drivers (CTNNB1, TP53, CDKN2A, RB1, MEN1) and genes not previously reported to be altered in ACC (ZNRF3, DAXX, TERT and MED12), which were validated in an independent cohort of 77 ACC. The cell-surface transmembrane E3 ubiquitin ligase ZNRF36 was the gene the most frequently altered (21%), and appears as a potential novel tumor suppressor gene related to the ß-catenin pathway.Our integrated genomic analyses led to the identification of two distinct molecular subgroups with opposite outcome. The C1A group of poor outcome ACC was characterized by numerous mutations and DNA methylation alterations, whereas the C1B group with good prognosis displayed a specific deregulation of two miRNA clusters. Thus, aggressive and indolent ACC correspond to two distinct molecular entities, driven by different oncogenic alterations.

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Institut National de la Santé et de la Recherche Médicale U1016

data and metadata to the European Genome phenome Archive (EGA) for the purpose of controlled access for individuals approved by Jérôme Bertherat. Service d'Endocrinologie, Hôpital Cochin, 27 rue du Fg-St-Jacques, F-75014, ParisTel +33 (0)1 58 41 18 95 ; Fax: +33 (0)1 46 33 80 60Coordinateur Centre de Référence Maladies Rares de la Surrénale d'équipe Tumeurs Endocrines & Signalisation, Institut CochinINSERM U 1016, CNRS UMR8104, Université Paris Descartes

Studies are experimental investigations of a particular phenomenon, e.g., case-control studies on a particular trait or cancer research projects reporting matching cancer normal genomes from patients.

Study ID Study Title Study Type
EGAS00001000665 Other

This table displays only public information pertaining to the files in the dataset. If you wish to access this dataset, please submit a request. If you already have access to these data files, please consult the download documentation.

ID File Type Size Located in
EGAF00000502814 bam 9.5 GB
EGAF00000502815 bam 10.8 GB
EGAF00000502816 bam 8.0 GB
EGAF00000502817 bam 10.7 GB
EGAF00000502818 bam 11.2 GB
EGAF00000502819 bam 8.0 GB
EGAF00000502820 bam 7.7 GB
EGAF00000502821 bam 9.1 GB
EGAF00000502822 bam 8.6 GB
EGAF00000502823 bam 7.3 GB
EGAF00000502824 bam 8.1 GB
EGAF00000502825 bam 8.7 GB
EGAF00000502826 bam 9.7 GB
EGAF00000502827 bam 9.0 GB
EGAF00000502828 bam 9.5 GB
EGAF00000502829 bam 9.0 GB
EGAF00000502830 bam 8.7 GB
EGAF00000502831 bam 9.0 GB
EGAF00000502832 bam 9.5 GB
EGAF00000502833 bam 9.6 GB
EGAF00000502834 bam 7.9 GB
EGAF00000502835 bam 9.8 GB
EGAF00000502836 bam 9.5 GB
EGAF00000502837 bam 8.4 GB
EGAF00000502838 bam 9.2 GB
EGAF00000502839 bam 8.7 GB
EGAF00000502840 bam 7.9 GB
EGAF00000502841 bam 9.1 GB
EGAF00000502842 bam 9.5 GB
EGAF00000502843 bam 8.3 GB
EGAF00000502844 bam 8.2 GB
EGAF00000502845 bam 8.9 GB
EGAF00000502846 bam 9.3 GB
EGAF00000502847 bam 9.9 GB
EGAF00000502848 bam 9.4 GB
EGAF00000502849 bam 9.3 GB
EGAF00000502850 bam 9.1 GB
EGAF00000502851 bam 7.4 GB
EGAF00000502852 bam 9.7 GB
EGAF00000502853 bam 9.0 GB
EGAF00000502854 bam 9.2 GB
EGAF00000502855 bam 9.0 GB
EGAF00000502856 bam 9.6 GB
EGAF00000502857 bam 7.9 GB
EGAF00000502858 bam 9.5 GB
45 Files (405.6 GB)