Somatic Driver Mutations in Melanoma

被引:97
作者
Reddy, Bobby Y. [1 ]
Miller, David M. [1 ,2 ]
Tsao, Hensin [1 ]
机构
[1] Harvard Med Sch, Massachusetts Gen Hosp, Wellman Ctr Photomed, Dept Dermatol, Boston, MA USA
[2] Beth Israel Deaconess Med Ctr, Div Hematol Oncol, Boston, MA 02215 USA
关键词
driver mutations; genetics; immune therapy; melanoma; targeted therapy; TERT PROMOTER MUTATIONS; TRANSCRIPTION FACTOR; THERAPEUTIC TARGET; MUTANT MELANOMA; BRAF MUTATIONS; UVEAL MELANOMA; BRAF(V600E) INHIBITION; CONFERS RESISTANCE; IMATINIB MESYLATE; DOUBLE-BLIND;
D O I
10.1002/cncr.30593
中图分类号
R73 [肿瘤学];
学科分类号
100214 ;
摘要
Melanoma has one of the highest somatic mutational burdens among solid malignancies. Although the rapid progress in genomic research has contributed immensely to our understanding of the pathogenesis of melanoma, the clinical significance of the vast array of genomic alterations discovered by next-generation sequencing is far from being fully characterized. Most mutations prevalent in melanoma are simply neutral "passengers," which accompany functionally significant "drivers" under transforming conditions. The delineation of driver mutations from passenger mutations is critical to the development of targeted therapies. Novel advances in genomic data analysis have aided in distinguishing true driver mutations involved in tumor progression. Here, the authors review the current literature on important somatic driver mutations in melanoma, along with the implications for treatment. (c) 2017 American Cancer Society.
引用
收藏
页码:2104 / 2117
页数:14
相关论文
共 116 条
[1]   Genomic Classification of Cutaneous Melanoma [J].
Akbani, Rehan ;
Akdemir, Kadir C. ;
Aksoy, B. Arman ;
Albert, Monique ;
Ally, Adrian ;
Amin, Samirkumar B. ;
Arachchi, Harindra ;
Arora, Arshi ;
Auman, J. Todd ;
Ayala, Brenda ;
Baboud, Julien ;
Balasundaram, Miruna ;
Balu, Saianand ;
Barnabas, Nandita ;
Bartlett, John ;
Bartlett, Pam ;
Bastian, Boris C. ;
Baylin, Stephen B. ;
Behera, Madhusmita ;
Belyaev, Dmitry ;
Benz, Christopher ;
Bernard, Brady ;
Beroukhim, Rameen ;
Bir, Natalie ;
Black, Aaron D. ;
Bodenheimer, Tom ;
Boice, Lori ;
Boland, Genevieve M. ;
Bono, Riccardo ;
Bootwalla, Moiz S. ;
Bosenberg, Marcus ;
Bowen, Jay ;
Bowlby, Reanne ;
Bristow, Christopher A. ;
Brockway-Lunardi, Laura ;
Brooks, Denise ;
Brzezinski, Jakub ;
Bshara, Wiam ;
Buda, Elizabeth ;
Burns, William R. ;
Butterfield, Yaron S. N. ;
Button, Michael ;
Calderone, Tiffany ;
Cappellini, Giancarlo Antonini ;
Carter, Candace ;
Carter, Scott L. ;
Cherney, Lynn ;
Cherniack, Andrew D. ;
Chevalier, Aaron ;
Chin, Lynda .
CELL, 2015, 161 (07) :1681-1696
[2]   Recurrent inactivating RASA2 mutations in melanoma [J].
Arafeh, Rand ;
Qutob, Nouar ;
Emmanuel, Rafi ;
Keren-Paz, Alona ;
Madore, Jason ;
Elkahloun, Abdel ;
Wilmott, James S. ;
Gartner, Jared J. ;
Di Pizio, Antonella ;
Winograd-Katz, Sabina ;
Sindiri, Sivasish ;
Rotkopf, Ron ;
Dutton-Regester, Ken ;
Johansson, Peter ;
Pritchard, Antonia L. ;
Waddell, Nicola ;
Hill, Victoria K. ;
Lin, Jimmy C. ;
Hevroni, Yael ;
Rosenberg, Steven A. ;
Khan, Javed ;
Ben-Dor, Shifra ;
Niv, Masha Y. ;
Ulitsky, Igor ;
Mann, Graham J. ;
Scolyer, Richard A. ;
Hayward, Nicholas K. ;
Samuels, Yardena .
NATURE GENETICS, 2015, 47 (12) :1408-+
[3]   Cobimetinib combined with vemurafenib in advanced BRAFV600-mutant melanoma (coBRIM): updated efficacy results from a randomised, double-blind, phase 3 trial [J].
Ascierto, Paolo A. ;
McArthur, Grant A. ;
Dreno, Brigitte ;
Atkinson, Victoria ;
Liszkay, Gabrielle ;
Di Giacomo, Anna Maria ;
Mandala, Mario ;
Demidov, Lev ;
Stroyakovskiy, Daniil ;
Thomas, Luc ;
de la Cruz-Merino, Luis ;
Dutriaux, Caroline ;
Garbe, Claus ;
Yan, Yibing ;
Wongchenko, Matthew ;
Chang, Ilsung ;
Hsu, Jessie J. ;
Koralek, Daniel O. ;
Rooney, Isabelle ;
Ribas, Antoni ;
Larkin, James .
LANCET ONCOLOGY, 2016, 17 (09) :1248-1260
[4]   MEK162 for patients with advanced melanoma harbouring NRAS or Val600 BRAF mutations: a non-randomised, open-label phase 2 study [J].
Ascierto, Paolo A. ;
Schadendorf, Dirk ;
Berking, Carola ;
Agarwala, Sanjiv S. ;
van Herpen, Carla M. L. ;
Queirolo, Paola ;
Blank, Christian U. ;
Hauschild, Axel ;
Beck, J. Thaddeus ;
St-Pierre, Annie ;
Niazi, Faiz ;
Wandel, Simon ;
Peters, Malte ;
Zubel, Angela ;
Dummer, Reinhard .
LANCET ONCOLOGY, 2013, 14 (03) :249-256
[5]   BRAF V600E Mutant Colorectal Cancer Subtypes Based on Gene Expression [J].
Barras, David ;
Missiaglia, Edoardo ;
Wirapati, Pratyaksha ;
Sieber, Oliver M. ;
Jorissen, Robert N. ;
Love, Chris ;
Molloy, Peter L. ;
Jones, Ian T. ;
McLaughlin, Stephen ;
Gibbs, Peter ;
Guinney, Justin ;
Simon, Iris M. ;
Roth, Arnaud D. ;
Bosman, Fred T. ;
Tejpar, Sabine ;
Delorenzi, Mauro .
CLINICAL CANCER RESEARCH, 2017, 23 (01) :104-115
[6]  
Bartkova J, 1996, CANCER RES, V56, P5475
[7]   The transcription factor GABP selectively binds and activates the mutant TERT promoter in cancer [J].
Bell, Robert J. A. ;
Rube, H. Tomas ;
Kreig, Alex ;
Mancini, Andrew ;
Fouse, Shaun D. ;
Nagarajan, Raman P. ;
Choi, Serah ;
Hong, Chibo ;
He, Daniel ;
Pekmezci, Melike ;
Wiencke, John K. ;
Wrensch, Margaret R. ;
Chang, Susan M. ;
Walsh, Kyle M. ;
Myong, Sua ;
Song, Jun S. ;
Costello, Joseph F. .
SCIENCE, 2015, 348 (6238) :1036-1039
[8]   How to make a melanoma: what do we know of the primary clonal events? [J].
Bennett, Dorothy C. .
PIGMENT CELL & MELANOMA RESEARCH, 2008, 21 (01) :27-38
[9]   Melanoma genome sequencing reveals frequent PREX2 mutations [J].
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. .
NATURE, 2012, 485 (7399) :502-506
[10]   Assessing the significance of chromosomal aberrations in cancer: Methodology and application to glioma [J].
Beroukhim, Rameen ;
Getz, Gad ;
Nghiemphu, Leia ;
Barretina, Jordi ;
Hsueh, Teli ;
Linhart, David ;
Vivanco, Igor ;
Lee, Jeffrey C. ;
Huang, Julie H. ;
Alexander, Sethu ;
Du, Jinyan ;
Kau, Tweeny ;
Thomas, Roman K. ;
Shah, Kinial ;
Soto, Horacio ;
Perner, Sven ;
Prensner, John ;
Debiasi, Ralph M. ;
Demichelis, Francesca ;
Hatton, Charlie ;
Rubin, Mark A. ;
Garraway, Levi A. ;
Nelson, Stan F. ;
Liau, Linda ;
Mischel, Paul S. ;
Cloughesy, Tim F. ;
Meyerson, Matthew ;
Golub, Todd A. ;
Lander, Eric S. ;
Mellinghoff, Ingo K. ;
Sellers, William R. .
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 2007, 104 (50) :20007-20012