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Comprehensive Pan-Genomic Characterization of Adrenocortical Carcinoma

Cancer Cell. Volume 29: 723-736, 09 May 2016 10.1016/j.ccell.2016.04.002

Adrenocortical carcinoma (ACC) is a rare neoplasm with a heterogeneous outcome and limited treatment options. Here we describe the genomic, transcriptomic, epigenomic and proteomic profiling of 91 ACCs as a part of The Cancer Genome Atlas (TCGA). We identified potential driving alterations including amplifications (TERT, TERF2 and CDK4), deletions (ZNRF3, CDKN2A and RB1) and point mutations in genes previously not known to participate in adrenal disease (RPL22), as well as in genes known to initiate familial syndromes that include adrenocortical neoplasms (TP53, CTNNB1, PRKAR1A, MEN1). We observed a wide variability in ploidy in absolute copy number and genotypic analysis, which implies a sequential development from hypodiploidy to polyploidy via whole genome doubling in a subset of ACCs. Integrated analyses confirmed and expanded the role of mutations of the RB, Wnt/beta-catenin and PKA signaling pathways. Unsupervised clustering of multidimensional data revealed three classes of ACC with biological and clinical significance. Using genomic data of other tumour types, we performed pan-cancer analyses of ACC, which allowed us to place ACC in a broader context of cancer genomic profiles. Our results present a comprehensive genomic landscape and a refined molecular classification of ACC, improving our understanding of its pathogenesis that will ultimately improve the care of patients.

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