Journal ArticleDOI
Distinct Sets of Genetic Alterations in Melanoma
John A. Curtin,Jane Fridlyand,Toshiro Kageshita,Hetal N. Patel,Klaus J. Busam,Heinz Kutzner,Kwang Hyun Cho,Setsuya Aiba,Eva B. Bröcker,Philip E. LeBoit,Daniel Pinkel,Boris C. Bastian +11 more
TLDR
The genetic alterations identified in melanoma at different sites and with different levels of sun exposure indicate that there are distinct genetic pathways in the development of melanoma and implicate CDK4 and CCND1 as independent oncogenes in melanomas without mutations in BRAF or N-RAS.Abstract:
Background Exposure to ultraviolet light is a major causative factor in melanoma, although the relationship between risk and exposure is complex. We hypothesized that the clinical heterogeneity is explained by genetically distinct types of melanoma with different susceptibility to ultraviolet light. Methods We compared genome-wide alterations in the number of copies of DNA and mutational status of BRAF and N-RAS in 126 melanomas from four groups in which the degree of exposure to ultraviolet light differs: 30 melanomas from skin with chronic sun-induced damage and 40 melanomas from skin without such damage; 36 melanomas from palms, soles, and subungual (acral) sites; and 20 mucosal melanomas. Results We found significant differences in the frequencies of regional changes in the number of copies of DNA and mutation frequencies in BRAF among the four groups of melanomas. Samples could be correctly classified into the four groups with 70 percent accuracy on the basis of the changes in the number of copies of...read more
Citations
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Aggressiveness of human melanoma xenograft models is promoted by aneuploidy-driven gene expression deregulation.
Véronique Mathieu,Christine Pirker,Wolfgang M. Schmidt,Sabine Spiegl-Kreinecker,Daniela Lötsch,Petra Heffeter,Balazs Hegedus,Michael Grusch,Robert Kiss,Walter Berger +9 more
TL;DR: The data suggest that an aneuploidy-driven gene expression deregulation drives local aggressiveness in human melanoma, and siRNA-mediated down-regulation of SIPA1 exerted significant effects on clonogenicity, adherence and migration in aggressive melanoma models.
Journal ArticleDOI
Efficacy of Immunotherapy in Patients with Metastatic Mucosal or Uveal Melanoma
C. Mignard,Aurélie Deschamps Huvier,André Gillibert,Anne Bénédicte Duval Modeste,Caroline Dutriaux,Amir Khammari,Marie-Françoise Avril,Nora Kramkimel,Laurent Mortier,Pierre Marcant,Thierry Lesimple,Caroline Gaudy-Marqueste,C. Lesage,Laurent Machet,François Aubin,Nicolas Meyer,Nathalie Beneton,Géraldine Jeudy,Henri Montaudié,Jean-Philippe Arnault,L. Visseaux,Sabiha Trabelsi,Mona Amini-Adle,Eve Maubec,Yannick Le Corre,Dan Lipsker,E. Wierzbicka-Hainaut,N. Litrowski,A. Stefan,Florence Brunet-Possenti,Marie-Thérèse Leccia,Pascal Joly +31 more
TL;DR: Investigating the response rate and survival of patients with metastatic mucosal melanoma and uveal melanoma treated with anti-CTLA-4 or anti-PD-1 monoclonal antibodies found that immunotherapy significantly improves OS for MM and the prognosis of metastatic UM remains poor.
Journal ArticleDOI
Vemurafenib: an evidence-based review of its clinical utility in the treatment of metastatic melanoma.
TL;DR: The development, clinical utility, resistance mechanisms, and future use of vemurafenib both in melanoma and other malignancies are highlighted, and multiple mechanisms of resistance have been described and rationale strategies are underway to combat resistance.
Journal ArticleDOI
Acral lentiginous melanoma: Basic facts, biological characteristics and research perspectives of an understudied disease
Patricia Basurto-Lozada,Christian Molina-Aguilar,Christian Molina-Aguilar,Carolina Castaneda-Garcia,Martha Estefania Vázquez-Cruz,Omar Isaac Garcia-Salinas,Omar Isaac Garcia-Salinas,Alethia Alvarez-Cano,Héctor Martínez-Said,Rodrigo Roldán-Marín,David J. Adams,Patricia A. Possik,Carla Daniela Robles-Espinoza,Carla Daniela Robles-Espinoza +13 more
TL;DR: Current knowledge of the aetiology and diagnostic criteria of acral lentiginous melanoma, as well as its epidemiological and histopathological characteristics are discussed, and what is known about the genomic landscape of this disease is described and available biological models are reviewed to explore potential therapeutic targets.
Journal ArticleDOI
Melanomas of unknown primary have a mutation profile consistent with cutaneous sun-exposed melanoma
Ken Dutton-Regester,Hojabr Kakavand,Lauren G. Aoude,Mitchell S. Stark,Michael Gartside,Peter Johansson,Linda O'Connor,Cathy Lanagan,Varsha Tembe,Varsha Tembe,Gulietta M. Pupo,Gulietta M. Pupo,Lauren E. Haydu,Christopher W. Schmidt,Graham J. Mann,Graham J. Mann,John F. Thompson,John F. Thompson,Richard A. Scolyer,Richard A. Scolyer,Nicholas K. Hayward +20 more
TL;DR: It is suggested that a significant proportion of MUPs arise from regressed or unrecognized primary cutaneous melanomas or arise de novo in lymph nodes from nevus cells that have migrated from the skin.
References
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Mutations of the BRAF gene in human cancer
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Ross Ihaka,Robert Gentleman +1 more
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A new regulatory motif in cell-cycle control causing specific inhibition of cyclin D/CDK4
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Comparison of discrimination methods for the classification of tumors using gene expression data
TL;DR: Different discrimination methods for the classification of tumors based on gene expression data include nearest-neighbor classifiers, linear discriminant analysis, and classification trees, which are applied to datasets from three recently published cancer gene expression studies.
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High resolution analysis of DNA copy number variation using comparative genomic hybridization to microarrays
Daniel Pinkel,Daniel Pinkel,Richard Segraves,Damir Sudar,Steven M. Clark,Ian Poole,David Kowbel,Colin Collins,Wen Lin Kuo,Chira Chen,Ye Zhai,Shanaz H. Dairkee,Britt-Marie Ljung,Joe W. Gray,Joe W. Gray,Donna G. Albertson,Donna G. Albertson,Donna G. Albertson +17 more
TL;DR: The implementation of array CGH is demonstrated to be able to measure copy number with high precision in the human genome, and to analyse clinical specimens by obtaining new information on chromosome 20 aberrations in breast cancer.
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