- About this Journal
- Abstracting and Indexing
- Aims and Scope
- Article Processing Charges
- Articles in Press
- Author Guidelines
- Bibliographic Information
- Citations to this Journal
- Contact Information
- Editorial Board
- Editorial Workflow
- Free eTOC Alerts
- Publication Ethics
- Reviewers Acknowledgment
- Submit a Manuscript
- Subscription Information
- Table of Contents
Pathology Research International
Volume 2011 (2011), Article ID 159421, 8 pages
Molecular Bases of Cutaneous and Uveal Melanomas
1Department of Pathology and Cell Biology, University of South Florida College of Medicine, 12901 Bruce B. Downs Boulevard, MDC 11, Tampa, FL 33612, USA
2Department of Pathology, H. Lee Moffitt Cancer Center, 2nd Floor, 12902 Magnolia Dr., Tampa, FL 33612, USA
Received 15 March 2011; Revised 27 May 2011; Accepted 30 May 2011
Academic Editor: Gerardo Ferrara
Copyright © 2011 Sudeep Gaudi and Jane L. Messina. This is an open access article distributed under the Creative Commons Attribution License, which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
- National Cancer Institute SEER Stat Fact Sheets, “Melanoma of the skin,” 2010, http://seer.cancer.gov/statfacts/html/melan.html.
- National Cancer Institute Skin Cancer, 2010, http://www.cancer.gov/cancertopics/types/skin.
- N. Ibrahim and F. G. Haluska, “Molecular pathogenesis of cutaneous melanocytic neoplasms,” Annual Review of Pathology, vol. 4, pp. 551–579, 2009.
- A. E. Chang, L. H. Karnell, and H. R. Menck, “The national cancer data base report on cutaneous and noncutaneous melanoma: a summary of 84,836 cases from the past decade: the American College of Surgeons Commission on Cancer and the American Cancer Society,” Cancer, vol. 83, no. 8, pp. 1664–1678, 1998.
- N. V. Laver, M. E. McLaughlin, and J. S. Duker, “Ocular melanoma,” Archives of Pathology and Laboratory Medicine, vol. 134, no. 12, pp. 1778–1784, 2010.
- B. Damato, “Does ocular treatment of uveal melanoma influence survival,” British Journal of Cancer, vol. 103, no. 3, pp. 285–290, 2010.
- I. Yeh and B. C. Bastian, “Genome-wide associations studies for melanoma and nevi,” Pigment Cell and Melanoma Research, vol. 22, no. 5, pp. 527–528, 2009.
- K. B. Calder and M. B. Morgan, “Carcinogenic pathway of malignant melanoma,” in Mechanisms of Oncogenesis: An Update on Tumorigenesis, D. Coppola, Ed., pp. 149–157, Springer, 2010.
- K. D. Meyle and P. Guldberg, “Genetic risk factors for melanoma,” Human Genetics, vol. 126, no. 4, pp. 499–510, 2009.
- A. A. Nelson and H. Tsao, “Melanoma and genetics,” Clinics in Dermatology, vol. 27, no. 1, pp. 46–52, 2009.
- G. Palmieri, M. Capone, M. L. Ascierto et al., “Main roads to melanoma,” Journal of Translational Medicine, vol. 7, Article ID 86, 2009.
- A. Sekulic, P. Haluska, A. J. Miller et al., “Malignant melanoma in the 21st century: the emerging molecular landscape,” Mayo Clinic Proceedings, vol. 83, no. 7, pp. 825–846, 2008.
- L. Chin, “The genetics of malignant melanoma: lessons from mouse and man,” Nature Reviews Cancer, vol. 3, no. 8, pp. 559–570, 2003.
- K. S. Smalley, “Understanding melanoma signaling networks as the basis for molecular targeted therapy,” Journal of Investigative Dermatology, vol. 130, no. 1, pp. 28–37, 2010.
- Y. Kong, S. M. Kumar, and X. Xu, “Molecular pathogenesis of sporadic melanoma and melanoma-initiating cells,” Archives of Pathology and Laboratory Medicine, vol. 134, no. 12, pp. 1740–1749, 2010.
- Y. Yarden, W. J. Kuang, T. Yang-Feng et al., “Human proto-oncogene c-kit: a new cell surface receptor tyrosine kinase for an unidentified ligand,” EMBO Journal, vol. 6, no. 11, pp. 3341–3351, 1987.
- S. E. Woodman and M. A. Davies, “Targeting KIT in melanoma: a paradigm of molecular medicine and targeted therapeutics,” Biochemical Pharmacology, vol. 80, no. 5, pp. 568–574, 2010.
- K. T. Flaherty, F. S. Hodi, and B. C. Bastian, “Mutation-driven drug development in melanoma,” Current Opinion in Oncology, vol. 22, no. 3, pp. 178–183, 2010.
- C. R. Antonescu, K. J. Busam, T. D. Francone et al., “L576P KIT mutation in anal melanomas correlates with KIT protein expression and is sensitive to specific kinase inhibition,” International Journal of Cancer, vol. 121, no. 2, pp. 257–264, 2007.
- A. Ashida, M. Takata, H. Murata, K. Kido, and T. Saida, “Pathological activation of KIT In metastatic tumors of acral and mucosal melanomas,” International Journal of Cancer, vol. 124, no. 4, pp. 863–868, 2009.
- C. Beadling, E. Jacobson-Dunlop, F. S. Hodi et al., “KIT gene mutations and copy number in melanoma subtypes,” Clinical Cancer Research, vol. 14, no. 21, pp. 6821–6828, 2008.
- J. A. Curtin, K. Busam, D. Pinkel, and B. C. Bastian, “Somatic activation of KIT in distinct subtypes of melanoma,” Journal of Clinical Oncology, vol. 24, no. 26, pp. 4340–4346, 2006.
- R. S. Rivera, H. Nagatsuka, M. Gunduz et al., “C-kit protein expression correlated with activating mutations in KIT gene in oral mucosal melanoma,” Virchows Archiv, vol. 452, no. 1, pp. 27–32, 2008.
- K. S. Smalley, V. K. Sondak, and J. S. Weber, “C-KIT signaling as the driving oncogenic event in sub-groups of melanomas,” Histology and Histopathology, vol. 24, no. 5, pp. 643–650, 2009.
- J. Lennartsson, P. Blume-Jensen, M. Hermanson, E. Pontén, M. Carlberg, and L. Rönnstrand, “Phosphorylation of Shc by Src family kinases is necessary for stem cell factor receptor/c-kit mediated activation of the Ras/MAP kinase pathway and c-fos induction,” Oncogene, vol. 18, no. 40, pp. 5546–5553, 1999.
- C. D. Mol, D. R. Dougan, T. R. Schneider et al., “Structural basis for the autoinhibition and STI-571 inhibition of c-Kit tyrosine kinase,” Journal of Biological Chemistry, vol. 279, no. 30, pp. 31655–31663, 2004.
- A. Platz, S. Egyhazi, U. Ringborg, and J. Hansson, “Human cutaneous melanoma; a review of NRAS and BRAF mutation frequencies in relation to histogenetic subclass and body site,” Molecular Oncology, vol. 1, no. 4, pp. 395–405, 2008.
- J. Ackermann, M. Frutschi, K. Kaloulis, T. McKee, A. Trumpp, and F. Beermann, “Metastasizing melanoma formation caused by expression of activated on an INK4a-deficient background,” Cancer Research, vol. 65, no. 10, pp. 4005–4011, 2005.
- L. Chin, A. Tam, J. Pomerantz et al., “Essential role for oncogenic ras in tumour maintenance,” Nature, vol. 400, no. 6743, pp. 468–472, 1999.
- P. M. Pollock, U. L. Harper, K. S. Hansen et al., “High frequency of BRAF mutations in nevi,” Nature Genetics, vol. 33, no. 1, pp. 19–20, 2003.
- I. Puzanov and K. T. Flaherty, “Targeted molecular therapy in melanoma,” Seminars in Cutaneous Medicine and Surgery, vol. 29, no. 3, pp. 196–201, 2010.
- P. T. C. Wan, M. J. Garnett, S. M. Roe et al., “Mechanism of activation of the RAF-ERK signaling pathway by oncogenic mutations of B-RAF,” Cell, vol. 116, no. 6, pp. 855–867, 2004.
- V. K. Goel, A. J. F. Lazar, C. L. Warneke, M. S. Redston, and F. G. Haluska, “Examination of mutations in BRAF, NRAS, and PTEN in primary cutaneous melanoma,” Journal of Investigative Dermatology, vol. 126, no. 1, pp. 154–160, 2006.
- A. Mirmohammadsadegh, A. Marini, S. Nambiar et al., “Epigenetic silencing of the PTEN gene in melanoma,” Cancer Research, vol. 66, no. 13, pp. 6546–6552, 2006.
- H. Tsao, V. K. Goel, H. Wu, G. Yang, and F. G. Haluska, “Genetic interaction between NRAS and BRAF mutations and PTEN/MMAC1 inactivation in melanoma,” Journal of Investigative Dermatology, vol. 122, no. 2, pp. 337–341, 2004.
- A. Zembowicz, R. V. Mandal, and P. Choopong, “Melanocytic lesions of the conjunctiva,” Archives of Pathology and Laboratory Medicine, vol. 134, no. 12, pp. 1785–1792, 2010.
- “Intraocular (Eye) melanoma treatment,” 2007, http://www.cancer.gov/cancertopics/pdq/treatment/intraocularmelanoma/HealthProfessional.
- A. M. Goldstein, S. N. Stacey, J. H. Olafsson et al., “CDKN2A mutations and melanoma risk in the Icelandic population,” Journal of Medical Genetics, vol. 45, no. 5, pp. 284–289, 2008.
- F. Cruz, B. P. Rubin, D. Wilson et al., “Absence of BRAF and NRAS mutations in uveal melanoma,” Cancer Research, vol. 63, no. 18, pp. 5761–5766, 2003.
- D. Rimoldi, S. Salvi, D. Liénard et al., “Lack of BRAF mutations in uveal melanoma,” Cancer Research, vol. 63, no. 18, pp. 5712–5715, 2003.
- W. Zuidervaart, F. Van Nieuwpoort, M. Stark et al., “Activation of the MAPK pathway is a common event in uveal melanomas although it rarely occurs through mutation of BRAF or RAS,” British Journal of Cancer, vol. 92, no. 11, pp. 2032–2038, 2005.
- M. D. Onken, L. A. Worley, M. D. Long et al., “Oncogenic mutations in GNAQ occur early in uveal melanoma,” Investigative Ophthalmology and Visual Science, vol. 49, no. 12, pp. 5230–5234, 2008.
- M. Patel, E. Smyth, P. B. Chapman, et al., “Therapeutic implications of the emerging molecular biology of uveal melanoma,” Clinical Cancer Research, vol. 17, no. 8, pp. 2087–2100, 2011.
- C. D. Van Raamsdonk, V. Bezrookove, G. Green et al., “Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi,” Nature, vol. 457, no. 7229, pp. 599–602, 2009.
- “Phase II trial of temozolomide versus AZD6244 in patients with metastatic uveal melanoma,” 2011, http://www.mskcc.org/mskcc/html/2270.cfm?IRBNO=10-053.
- H. Davies, G. R. Bignell, C. Cox et al., “Mutations of the BRAF gene in human cancer,” Nature, vol. 417, no. 6892, pp. 949–954, 2002.
- D. J. Nancarrow, G. J. Mann, E. A. Holland et al., “Confirmation of chromosome 9p linkage in familial melanoma,” American Journal of Human Genetics, vol. 53, no. 4, pp. 936–942, 1993.
- R. A. Padua, N. C. Barrass, and G. A. Currie, “Activation of N-ras in a human melanoma cell line,” Molecular and Cellular Biology, vol. 5, no. 3, pp. 582–585, 1985.
- P. A. Steck, M. A. Pershouse, S. A. Jasser et al., “Identification of a candidate tumour suppressor gene, MMAC1, at chromosome 10q23.3 that is mutated in multiple advanced cancers,” Nature Genetics, vol. 15, no. 4, pp. 356–362, 1997.
- L. Zuo, J. Weger, Q. Yang et al., “Germline mutations in the p16(INK4a) binding domain of CDK4 in familial melanoma,” Nature Genetics, vol. 12, no. 1, pp. 97–99, 1996.
- U. Benbow, G. B. Tower, C. A. Wyatt, G. Buttice, and C. E. Brinckerhoff, “High levels of MMP-1 expression in the absence of the 2G single nucleotide polymorphism is mediated by p38 and ERK1/2 mitogen-activated protein kinases in VMM5 melanoma cells,” Journal of Cellular Biochemistry, vol. 86, no. 2, pp. 307–319, 2002.
- R. A. Cartlidge, G. R. Thomas, S. Cagnol et al., “Oncogenic inhibits BIM expression to promote melanoma cell survival,” Pigment Cell and Melanoma Research, vol. 21, no. 5, pp. 534–544, 2008.
- K. M. Eisenmann, M. W. VanBrocklin, N. A. Staffend, S. M. Kitchen, and H. M. Koo, “Mitogen-activated protein kinase pathway-dependent tumor-specific survival signaling in melanoma cells through inactivation of the proapoptotic protein bad,” Cancer Research, vol. 63, no. 23, pp. 8330–8337, 2003.
- J. T. Huntington, J. M. Shields, C. J. Der et al., “Overexpression of collagenase 1 (MMP-1) is mediated by the ERK pathway in invasive melanoma cells: role of BRAF mutation and fibroblast growth factor signaling,” Journal of Biological Chemistry, vol. 279, no. 32, pp. 33168–33176, 2004.
- M. Kono, I. S. Dunn, P. J. Durda et al., “Role of the mitogen-activated protein kinase signaling pathway in the regulation of human melanocytic antigen expression,” Molecular Cancer Research, vol. 4, no. 10, pp. 779–792, 2006.
- S. M. Kumar, H. Yu, R. Edwards et al., “Mutant V600E BRAF increases hypoxia inducible factor-1α expression in melanoma,” Cancer Research, vol. 67, no. 7, pp. 3177–3184, 2007.
- A. Sharma, M. A. Tran, S. Liang et al., “Targeting mitogen-activated protein kinase/extracellular signal-regulated kinase kinase in the mutant (V600E) B-Raf signaling cascade effectively inhibits melanoma lung metastases,” Cancer Research, vol. 66, no. 16, pp. 8200–8209, 2006.
- A. Sharma, N. R. Trivedi, M. A. Zimmerman, D. A. Tuveson, C. D. Smith, and G. P. Robertson, “Mutant regulates growth and vascular development of malignant melanoma tumors,” Cancer Research, vol. 65, no. 6, pp. 2412–2421, 2005.
- M. S. Soengas and S. W. Lowe, “Apoptosis and melanoma chemoresistance,” Oncogene, vol. 22, no. 20, pp. 3138–3151, 2003.
- H. Sumimoto, F. Imabayashi, T. Iwata, and Y. Kawakami, “The BRAF-MAPK signaling pathway is essential for cancer-immune evasion in human melanoma cells,” Journal of Experimental Medicine, vol. 203, no. 7, pp. 1651–1656, 2006.
- D. Woods, H. Cherwinski, E. Venetsanakos et al., “Induction of β3-integrin gene expression by sustained activation of the Ras-regulated Raf-MEK-extracellular signal-regulated kinase signaling pathway,” Molecular and Cellular Biology, vol. 21, no. 9, pp. 3192–3205, 2001.
- X. D. Zhang, J. M. Borrow, X. Y. Zhang, T. Nguyen, and P. Hersey, “Activation of ERK1/2 protects melanoma cells from TRAIL-induced apoptosis by inhibiting Smac/DIABLO release from mitochondria,” Oncogene, vol. 22, no. 19, pp. 2869–2881, 2003.
- J. Newton-Bishop and N. Gruis, “Melanoma susceptibility genes,” Melanoma Research, vol. 20, no. 3, pp. 161–162, 2010.
- D. T. Bishop, F. Demenais, M. M. Iles et al., “Genome-wide association study identifies three loci associated with melanoma risk,” Nature Genetics, vol. 41, no. 8, pp. 920–925, 2009.
- M. Falchi, V. Bataille, N. K. Hayward et al., “Genome-wide association study identifies variants at 9p21 and 22q13 associated with development of cutaneous nevi,” Nature Genetics, vol. 41, no. 8, pp. 915–919, 2009.
- I. Puzanov, K. L. Nathanson, P. B. Chapman, et al., “PLX4032, a highly selective kinase inhibitor: clinical correlation of activity with pharmacokinetic and pharmacodynamic parameters in a phase I trial,” Journal of Clinical Oncology, vol. 27, no. 15s, p. 9021, 2009.
- F. S. Hodi, P. Friedlander, C. L. Corless et al., “Major response to imatinib mesylate in KIT-mutated melanoma,” Journal of Clinical Oncology, vol. 26, no. 12, pp. 2046–2051, 2008.