Genomic Classification of Cutaneous Melanoma

被引：2251

作者：

Akbani, Rehan ^{[1
]}

Akdemir, Kadir C. ^{[1
]}

Aksoy, B. Arman ^{[1
]}

Albert, Monique ^{[1
]}

Ally, Adrian ^{[1
]}

Amin, Samirkumar B. ^{[1
]}

Arachchi, Harindra ^{[1
]}

Arora, Arshi ^{[1
]}

Auman, J. Todd ^{[1
]}

Ayala, Brenda ^{[1
]}

Baboud, Julien ^{[1
]}

Balasundaram, Miruna ^{[1
]}

Balu, Saianand ^{[1
]}

Barnabas, Nandita ^{[1
]}

Bartlett, John ^{[1
]}

Bartlett, Pam ^{[1
]}

Bastian, Boris C. ^{[1
]}

Baylin, Stephen B. ^{[1
]}

Behera, Madhusmita ^{[1
]}

Belyaev, Dmitry ^{[1
]}

Benz, Christopher ^{[1
]}

Bernard, Brady ^{[1
]}

Beroukhim, Rameen ^{[1
]}

Bir, Natalie ^{[1
]}

Black, Aaron D. ^{[1
]}

Bodenheimer, Tom ^{[1
]}

Boice, Lori ^{[1
]}

Boland, Genevieve M. ^{[1
]}

Bono, Riccardo ^{[1
]}

Bootwalla, Moiz S. ^{[1
]}

Bosenberg, Marcus ^{[1
]}

Bowen, Jay ^{[1
]}

Bowlby, Reanne ^{[1
]}

Bristow, Christopher A. ^{[1
]}

Brockway-Lunardi, Laura ^{[1
]}

Brooks, Denise ^{[1
]}

Brzezinski, Jakub ^{[1
]}

Bshara, Wiam ^{[1
]}

Buda, Elizabeth ^{[1
]}

Burns, William R. ^{[1
]}

Butterfield, Yaron S. N. ^{[1
]}

Button, Michael ^{[1
]}

Calderone, Tiffany ^{[1
]}

Cappellini, Giancarlo Antonini ^{[1
]}

Carter, Candace ^{[1
]}

Carter, Scott L. ^{[1
]}

Cherney, Lynn ^{[1
]}

Cherniack, Andrew D. ^{[1
]}

Chevalier, Aaron ^{[1
]}

Chin, Lynda ^{[1
]}

机构：

[1] NCI, Canc Genome Atlas Program Off, NIH, Bethesda, MD 20892 USA

来源：

CELL | 2015年 / 161卷 / 07期

关键词：

TERT PROMOTER MUTATIONS; STAGE-III MELANOMA; METASTATIC MELANOMA; ADJUVANT THERAPY; RAF INHIBITION; NODE BIOPSY; CANCER; RESISTANCE; LANDSCAPE; SAFETY;

D O I：

10.1016/j.cell.2015.05.044

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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 sub-types 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 decision-making.

引用

页码：1681 / 1696

页数：16

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