Genomic Classification of Cutaneous Melanoma

被引：2134

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

共 68 条

[1] MUTATIONS IN THE NEUROFIBROMATOSIS-1 GENE IN SPORADIC MALIGNANT-MELANOMA CELL-LINES
ANDERSEN, LB
FOUNTAIN, JW
GUTMANN, DH
TARLE, SA
GLOVER, TW
DRACOPOLI, NC
HOUSMAN, DE
COLLINS, FS
[J]. NATURE GENETICS, 1993, 3 (02) : 118 - 121
[2] Clinical experience with ipilimumab 3 mg/kg: real-world efficacy and safety data from an expanded access programme cohort
Ascierto, Paolo A.
Simeone, Ester
Sileni, Vanna Chiarion
Pigozzo, Jacopo
Maio, Michele
Altomonte, Maresa
Del Vecchio, Michele
Di Guardo, Lorenza
Marchetti, Paolo
Ridolfi, Ruggero
Cognetti, Francesco
Testori, Alessandro
Bernengo, Maria Grazia
Guida, Michele
Marconcini, Riccardo
Mandala, Mario
Cimminiello, Carolina
Rinaldi, Gaetana
Aglietta, Massimo
Queirolo, Paola
[J]. JOURNAL OF TRANSLATIONAL MEDICINE, 2014, 12
[3] Tumor-Infiltrating Lymphocyte Grade Is an Independent Predictor of Sentinel Lymph Node Status and Survival in Patients With Cutaneous Melanoma
Azimi, Farhad
Scolyer, Richard A.
Rumcheva, Pavlina
Moncrieff, Marc
Murali, Rajmohan
McCarthy, Stanley W.
Saw, Robyn P.
Thompson, John F.
[J]. JOURNAL OF CLINICAL ONCOLOGY, 2012, 30 (21) : 2678 - 2683
[4] Time trends and latitudinal differences in melanoma thickness distribution in Australia, 1990-2006
Baade, Peter
Meng, Xingqiong
Youlden, Danny
Aitken, Joanne
Youl, Philippa
[J]. INTERNATIONAL JOURNAL OF CANCER, 2012, 130 (01) : 170 - 178
[5] Multivariate Analysis of Prognostic Factors Among 2,313 Patients With Stage III Melanoma: Comparison of Nodal Micrometastases Versus Macrometastases
Balch, Charles M.
Gershenwald, Jeffrey E.
Soong, Seng-jaw
Thompson, John F.
Ding, Shouluan
Byrd, David R.
Cascinelli, Natale
Cochran, Alistair J.
Coit, Daniel G.
Eggermont, Alexander M.
Johnson, Timothy
Kirkwood, John M.
Leong, Stanley P.
McMasters, Kelly M.
Mihm, Martin C., Jr.
Morton, Donald L.
Ross, Merrick I.
Sondak, Vernon K.
[J]. JOURNAL OF CLINICAL ONCOLOGY, 2010, 28 (14) : 2452 - 2459
[6] Final Version of 2009 AJCC Melanoma Staging and Classification
Balch, Charles M.
Gershenwald, Jeffrey E.
Soong, Seng-jaw
Thompson, John F.
Atkins, Michael B.
Byrd, David R.
Buzaid, Antonio C.
Cochran, Alistair J.
Coit, Daniel G.
Ding, Shouluan
Eggermont, Alexander M.
Flaherty, Keith T.
Gimotty, Phyllis A.
Kirkwood, John M.
McMasters, Kelly M.
Mihm, Martin C., Jr.
Morton, Donald L.
Ross, Merrick I.
Sober, Arthur J.
Sondak, Vernon K.
[J]. JOURNAL OF CLINICAL ONCOLOGY, 2009, 27 (36) : 6199 - 6206
[7] Melanoma genome sequencing reveals frequent PREX2 mutations
Berger, Michael F.
Hodis, Eran
Heffernan, Timothy P.
Deribe, Yonathan Lissanu
Lawrence, Michael S.
Protopopov, Alexei
Ivanova, Elena
Watson, Ian R.
Nickerson, Elizabeth
Ghosh, Papia
Zhang, Hailei
Zeid, Rhamy
Ren, Xiaojia
Cibulskis, Kristian
Sivachenko, Andrey Y.
Wagle, Nikhil
Sucker, Antje
Sougnez, Carrie
Onofrio, Robert
Ambrogio, Lauren
Auclair, Daniel
Fennell, Timothy
Carter, Scott L.
Drier, Yotam
Stojanov, Petar
Singer, Meredith A.
Voet, Douglas
Jing, Rui
Saksena, Gordon
Barretina, Jordi
Ramos, Alex H.
Pugh, Trevor J.
Stransky, Nicolas
Parkin, Melissa
Winckler, Wendy
Mahan, Scott
Ardlie, Kristin
Baldwin, Jennifer
Wargo, Jennifer
Schadendorf, Dirk
Meyerson, Matthew
Gabriel, Stacey B.
Golub, Todd R.
Wagner, Stephan N.
Lander, Eric S.
Getz, Gad
Chin, Lynda
Garraway, Levi A.
[J]. NATURE, 2012, 485 (7399) : 502 - 506
[8] Immune profile and mitotic index of metastatic melanoma lesions enhance clinical staging in predicting patient survival
Bogunovic, Dusan
O'Neill, David W.
Belitskaya-Levy, Ilana
Vacic, Vladimir
Yu, Yi-Lo
Adams, Sylvia
Darvishian, Farbod
Berman, Russell
Shapiro, Richard
Pavlick, Anna C.
Lonardi, Stefano
Zavadil, Jiri
Osman, Iman
Bhardwaj, Nina
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2009, 106 (48) : 20429 - 20434
[9] Safety and Activity of Anti-PD-L1 Antibody in Patients with Advanced Cancer
Brahmer, Julie R.
Tykodi, Scott S.
Chow, Laura Q. M.
Hwu, Wen-Jen
Topalian, Suzanne L.
Hwu, Patrick
Drake, Charles G.
Camacho, Luis H.
Kauh, John
Odunsi, Kunle
Pitot, Henry C.
Hamid, Omid
Bhatia, Shailender
Martins, Renato
Eaton, Keith
Chen, Shuming
Salay, Theresa M.
Alaparthy, Suresh
Grosso, Joseph F.
Korman, Alan J.
Parker, Susan M.
Agrawal, Shruti
Goldberg, Stacie M.
Pardoll, Drew M.
Gupta, Ashok
Wigginton, Jon M.
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 2012, 366 (26) : 2455 - 2465
[10] UV Signature Mutations
Brash, Douglas E.
[J]. PHOTOCHEMISTRY AND PHOTOBIOLOGY, 2015, 91 (01) : 15 - 26

← 1 2 3 4 5 6 7 →