Molecular Pathways in Melanomagenesis: What We Learned from Next-Generation Sequencing Approaches.
作者： Giuseppe Palmieri , , Maria Colombino , Milena Casula , Antonella Manca
DOI: 10.1007/S11912-018-0733-7
关键词: Gene 、 Medicine 、 Exome 、 Mutation 、 Mutational status 、 Whole genome sequencing 、 Cutaneous melanoma 、 DNA sequencing 、 Melanoma 、 Computational biology
摘要: Conventional clinico-pathological features in melanoma patients should be integrated with new molecular diagnostic, predictive, and prognostic factors coming from the expanding genomic profiles. Cutaneous (CM), even differing biological behavior according to sun-exposure levels on skin areas where it arises, is molecularly heterogeneous. The next-generation sequencing (NGS) approaches are providing data mutation landscapes driver genes that may account for distinct pathogenetic mechanisms pathways. purpose was group classify all somatic mutations observed main NGS-based studies. Whole exome whole genome have provided spectrum distribution of genetic alterations as well allowed discover cancer underlying CM pathogenesis. After evaluating mutational status a cohort 686 cases most representative NGS studies, three subtypes were proposed: BRAFmut, RASmut, non-BRAFmut/non-RASmut.
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Victoria J. Mar, Stephen Q. Wong, Jason Li, Richard A. Scolyer, Catriona McLean, Anthony T. Papenfuss, Richard W. Tothill, Hojabr Kakavand, Graham J. Mann, John F. Thompson, Andreas Behren, Jonathan S. Cebon, Rory Wolfe, John W. Kelly, Alexander Dobrovic, Grant A. McArthur, BRAF/NRAS Wild-Type Melanomas Have a High Mutation Load Correlating with Histologic and Molecular Signatures of UV Damage Clinical Cancer Research. ,vol. 19, pp. 4589- 4598 ,(2013) , 10.1158/1078-0432.CCR-13-0398
Eran Hodis, Ian R Watson, Gregory V Kryukov, Stefan T Arold, Marcin Imielinski, Jean-Philippe Theurillat, Elizabeth Nickerson, Daniel Auclair, Liren Li, Chelsea Place, Daniel DiCara, Alex H Ramos, Michael S Lawrence, Kristian Cibulskis, Andrey Sivachenko, Douglas Voet, Gordon Saksena, Nicolas Stransky, Robert C Onofrio, Wendy Winckler, Kristin Ardlie, Nikhil Wagle, Jennifer Wargo, Kelly Chong, Donald L Morton, Katherine Stemke-Hale, Guo Chen, Michael Noble, Matthew Meyerson, John E Ladbury, Michael A Davies, Jeffrey E Gershenwald, Stephan N Wagner, Dave SB Hoon, Dirk Schadendorf, Eric S Lander, Stacey B Gabriel, Gad Getz, Levi A Garraway, Lynda Chin, A landscape of driver mutations in melanoma Cell. ,vol. 150, pp. 251- 263 ,(2012) , 10.1016/J.CELL.2012.06.024
Georgina V. Long, Alexander M. Menzies, Adnan M. Nagrial, Lauren E. Haydu, Anne L. Hamilton, Graham J. Mann, T. Michael Hughes, John F. Thompson, Richard A. Scolyer, Richard F. Kefford, Prognostic and Clinicopathologic Associations of Oncogenic BRAF in Metastatic Melanoma Journal of Clinical Oncology. ,vol. 29, pp. 1239- 1246 ,(2011) , 10.1200/JCO.2010.32.4327
PIOTR RUTKOWSKI, ALEKSANDRA GOS, MONIKA JURKOWSKA, TOMASZ ŚWITAJ, WIRGINIUSZ DZIEWIRSKI, MARCIN ZDZIENICKI, KONRAD PTASZYŃSKI, WANDA MICHEJ, ANDRZEJ TYSAROWSKI, JANUSZ A. SIEDLECKI, Molecular alterations in clinical stage III cutaneous melanoma: Correlation with clinicopathological features and patient outcome. Oncology Letters. ,vol. 8, pp. 47- 54 ,(2014) , 10.3892/OL.2014.2122
David Sims, Ian Sudbery, Nicholas E. Ilott, Andreas Heger, Chris P. Ponting, Sequencing depth and coverage: key considerations in genomic analyses Nature Reviews Genetics. ,vol. 15, pp. 121- 132 ,(2014) , 10.1038/NRG3642
J. J. Gartner, S. C. J. Parker, T. D. Prickett, K. Dutton-Regester, M. L. Stitzel, J. C. Lin, S. Davis, V. L. Simhadri, S. Jha, N. Katagiri, V. Gotea, J. K. Teer, X. Wei, M. A. Morken, U. K. Bhanot, G. Chen, L. L. Elnitski, M. A. Davies, J. E. Gershenwald, H. Carter, R. Karchin, W. Robinson, S. Robinson, S. A. Rosenberg, F. S. Collins, G. Parmigiani, A. A. Komar, C. Kimchi-Sarfaty, N. K. Hayward, E. H. Margulies, Y. Samuels, J. Becker, B. Benjamin, R. Blakesley, G. Bouffard, S. Brooks, H. Coleman, M. Dekhtyar, M. Gregory, X. Guan, J. Gupta, J. Han, A. Hargrove, S.-l. Ho, T. Johnson, R. Legaspi, S. Lovett, Q. Maduro, C. Masiello, B. Maskeri, J. McDowell, C. Montemayor, J. Mullikin, M. Park, N. Riebow, K. Schandler, B. Schmidt, C. Sison, M. Stantripop, J. Thomas, P. Thomas, M. Vemulapalli, A. Young, , Whole-genome sequencing identifies a recurrent functional synonymous mutation in melanoma Proceedings of the National Academy of Sciences of the United States of America. ,vol. 110, pp. 13481- 13486 ,(2013) , 10.1073/PNAS.1304227110
Michael F. Berger, Eran Hodis, Timothy P. Heffernan, Yonathan Lissanu Deribe, Michael S. Lawrence, Alexei Protopopov, Elena Ivanova, Ian R. Watson, Elizabeth Nickerson, Papia Ghosh, Hailei Zhang, Rhamy Zeid, Xiaojia Ren, Kristian Cibulskis, Andrey Y. Sivachenko, Nikhil Wagle, Antje Sucker, Carrie Sougnez, Robert Onofrio, Lauren Ambrogio, Daniel Auclair, Timothy Fennell, Scott L. Carter, Yotam Drier, Petar Stojanov, Meredith A. Singer, Douglas Voet, Rui Jing, Gordon Saksena, Jordi Barretina, Alex H. Ramos, Trevor J. Pugh, Nicolas Stransky, Melissa Parkin, Wendy Winckler, Scott Mahan, Kristin Ardlie, Jennifer Baldwin, Jennifer Wargo, Dirk Schadendorf, Matthew Meyerson, Stacey B. Gabriel, Todd R. Golub, Stephan N. Wagner, Eric S. Lander, Gad Getz, Lynda Chin, Levi A. Garraway, Melanoma genome sequencing reveals frequent PREX2 mutations Nature. ,vol. 485, pp. 502- 506 ,(2012) , 10.1038/NATURE11071
D. Shitara, G. Tell-Martí, C. Badenas, M.M.S.S. Enokihara, L. Alós, A.B. Larque, N. Michalany, J.A. Puig-Butille, C. Carrera, J. Malvehy, S. Puig, E. Bagatin, Mutational status of naevus-associated melanomas. British Journal of Dermatology. ,vol. 173, pp. 671- 680 ,(2015) , 10.1111/BJD.13829
Simon J. Furney, Samra Turajlic, Gordon Stamp, J. Meirion Thomas, Andrew Hayes, Dirk Strauss, Mike Gavrielides, Wei Xing, Martin Gore, James Larkin, Richard Marais, The mutational burden of acral melanoma revealed by whole‐genome sequencing and comparative analysis Pigment Cell & Melanoma Research. ,vol. 27, pp. 835- 838 ,(2014) , 10.1111/PCMR.12279
Moriah H. Nissan, Christine A. Pratilas, Alexis M. Jones, Ricardo Ramirez, Helen Won, Cailian Liu, Shakuntala Tiwari, Li Kong, Aphrothiti J. Hanrahan, Zhan Yao, Taha Merghoub, Antoni Ribas, Paul B. Chapman, Rona Yaeger, Barry S. Taylor, Nikolaus Schultz, Michael F. Berger, Neal Rosen, David B. Solit, Loss of NF1 in cutaneous melanoma is associated with RAS activation and MEK dependence Cancer Research. ,vol. 74, pp. 2340- 2350 ,(2014) , 10.1158/0008-5472.CAN-13-2625