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Melanoma Genetics and Genomics

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Melanoma Development

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Abstract

Over the previous decade, our knowledge in somatic genetic events related to melanoma progression has exploded. It has become increasingly clear that multiple genetic events are required for melanoma to develop and that melanoma is a vastly heterogeneous disease. Signaling pathways that are essential for tumor progression have been pinpointed due to recent technological developments, which simultaneously identify attractive therapeutic targets in a disease characterized by consistent resistance to current chemotherapy regimens (see Chaps. 7 and 16). As has been implicated in many other malignancies, molecular profiling is anticipated to reveal prognostic, diagnostic, and predictive tools in the clinical setting of melanoma.

Additionally, tumor genetic data have recently been interconnected with epidemiology of melanoma (see Chap. 3). Two etiological pathways have been postulated to trigger the formation of melanoma. The first pathway involves relatively young individuals with large numbers of nevi and who develop melanomas on locations (e.g., trunk) that are intermittently UV exposed. This pathway is further corroborated by the fact that BRAF mutations, which frequently occur in nevi, are also more common in melanomas of younger patients with larger number of moles. A second pathway, which is probably related to chronic UV exposure, leads to melanomas that develop among older individuals and on chronically sun-exposed sites. Additionally, genetic analyses have uncovered a previously undisclosed hidden molecular structure between subtypes of melanoma.

Along translational lines, tumor genetic information has recently shown to be of enormous significance for personalizing therapeutic choice, e.g., Braf inhibitors that selectively target BrafV600E mutated melanomas, thus tumor genetic information is required prior to treatment.

In this chapter, we have screened current literature for an update of genetics and genomics within the field of melanoma tumor biology.

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Authors and Affiliations

  1. Department of Dermatology, Melanoma and Pigmented Lesion Center, Massachusetts General Hospital and Harvard Medical School, Boston, MA, USA

    Hensin Tsao

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  1. Göran Jönsson
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  2. Hensin Tsao
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Correspondence to Hensin Tsao .

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  1. , Molecular Pathology, Institute of Pathololgy, Franz-Josef-Strauss-Allee 11, Regensburg, 93053, Germany

    Anja Bosserhoff

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Jönsson, G., Tsao, H. (2011). Melanoma Genetics and Genomics. In: Bosserhoff, A. (eds) Melanoma Development. Springer, Vienna. https://doi.org/10.1007/978-3-7091-0371-5_4

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