Genomic Classification of Cutaneous Melanoma. Cell, 161(7):1681-96, 2015. 1097-4172 Cancer Genome Atlas Network UL1 TR000005/TR/NCATS NIH HHS/United States P30 CA016672/CA/NCI NIH HHS/United States U24 CA143882/CA/NCI NIH HHS/United States U54 HG003067/HG/NHGRI NIH HHS/United States U24 CA143835/CA/NCI NIH HHS/United States U24 CA143866/CA/NCI NIH HHS/United States U24 CA143845/CA/NCI NIH HHS/United States U24 CA143799/CA/NCI NIH HHS/United States T32 GM007753/GM/NIGMS NIH HHS/United States U54 HG003273/HG/NHGRI NIH HHS/United States P30 CA008748/CA/NCI NIH HHS/United States U24 CA144025/CA/NCI NIH HHS/United States R01 CA163896/CA/NCI NIH HHS/United States U24 CA180951/CA/NCI NIH HHS/United States U24 CA143840/CA/NCI NIH HHS/United States U24 CA143843/CA/NCI NIH HHS/United States U24 CA143858/CA/NCI NIH HHS/United States U24 CA143848/CA/NCI NIH HHS/United States P50 CA121974/CA/NCI NIH HHS/United States U54 HG003079/HG/NHGRI NIH HHS/United States U24 CA143883/CA/NCI NIH HHS/United States U24 CA143867/CA/NCI NIH HHS/United States Journal Article Research Support, N.I.H., Extramural United States 2015/06/20 Cell. 2015 Jun 18;161(7):1681-96. doi: 10.1016/j.cell.2015.05.044.
doi  abstract   bibtex   
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 multi-dimensional analysis suggests that the prognosis of melanoma patients with regional metastases is influenced by tumor stroma immunobiology, offering insights to further personalize therapeutic decision-making.
@article{RN6142,
   title = {Genomic Classification of Cutaneous Melanoma},
   journal = {Cell},
   volume = {161},
   number = {7},
   pages = {1681-96},
   note = {1097-4172
Cancer Genome Atlas Network
UL1 TR000005/TR/NCATS NIH HHS/United States
P30 CA016672/CA/NCI NIH HHS/United States
U24 CA143882/CA/NCI NIH HHS/United States
U54 HG003067/HG/NHGRI NIH HHS/United States
U24 CA143835/CA/NCI NIH HHS/United States
U24 CA143866/CA/NCI NIH HHS/United States
U24 CA143845/CA/NCI NIH HHS/United States
U24 CA143799/CA/NCI NIH HHS/United States
T32 GM007753/GM/NIGMS NIH HHS/United States
U54 HG003273/HG/NHGRI NIH HHS/United States
P30 CA008748/CA/NCI NIH HHS/United States
U24 CA144025/CA/NCI NIH HHS/United States
R01 CA163896/CA/NCI NIH HHS/United States
U24 CA180951/CA/NCI NIH HHS/United States
U24 CA143840/CA/NCI NIH HHS/United States
U24 CA143843/CA/NCI NIH HHS/United States
U24 CA143858/CA/NCI NIH HHS/United States
U24 CA143848/CA/NCI NIH HHS/United States
P50 CA121974/CA/NCI NIH HHS/United States
U54 HG003079/HG/NHGRI NIH HHS/United States
U24 CA143883/CA/NCI NIH HHS/United States
U24 CA143867/CA/NCI NIH HHS/United States
Journal Article
Research Support, N.I.H., Extramural
United States
2015/06/20
Cell. 2015 Jun 18;161(7):1681-96. 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 multi-dimensional analysis suggests that the prognosis of melanoma patients with regional metastases is influenced by tumor stroma immunobiology, offering insights to further personalize therapeutic decision-making.},
   keywords = {Databases, Genetic
Humans
Melanoma/*classification/*genetics
Mutation
National Cancer Institute (U.S.)
Skin Neoplasms/*classification/*genetics
United States},
   ISSN = {0092-8674 (Print)
0092-8674},
   DOI = {10.1016/j.cell.2015.05.044},
   year = {2015},
   type = {Journal Article}
}

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