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Home > Publications > Genomic Classification of Cutaneous Melanoma, 2015

Genomic Classification of Cutaneous Melanoma

Cell, Volume 161, Issue 7: 1681-1696 [doi:10.1016/j.cell.2015.05.044]

Abstract

We describe the landscape of genomic alterations in cutaneous melanomas through DNA, RNA, and protein- based analysis of 333 primary and/or metastatic melanomas from 331 patients. We establish a framework for genomic classification into one of four subtypes based on the pattern of the most prevalent significantly mutated genes: mutant BRAF, mutant RAS, mutant NF1, and Triple-WT (wild-type). Integrative analysis reveals enrichment of KIT mutations and focal amplifications and complex structural rearrangements as a feature of the Triple-WT subtype. We found no significant outcome correlation with genomic classification, but samples assigned a transcriptomic subclass enriched for immune gene expression associated with lymphocyte infiltrate on pathology review and high LCK protein expression, a T cell marker, were associated with improved patient survival. This clinicopathological and multidimensional analysis suggests that the prognosis of melanoma patients with regional metastases is influenced by tumor stroma immunobiology, offering insights to further personalize therapeutic decisionmaking.

Associated Data Files

These data represent a data freeze from Nov 14 2013. Please note that more recent data are available via the TCGA Data Portal.

The data are supported by different organizations. All data marked by [DCC] are DCC-validated archives. All data marked by [Supplementary] were created by the manuscript authors and you should contact the corresponding author for support.

Full Disease Sample List:

Exome Sequence BAM File References [DCC]

Clinical [DCC]

DNA Mutation

DNA Copy Number

RNA expression

miRNA expression

Methylation

Reverse Phase Protein Array (RPPA) Expression

Low Pass Whole Genome sequencing

Additional Information