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The Genetic Evolution of Melanoma

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Melanoma

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Abstract

Melanoma tumors are driven by a hyperactivated mitogen-activated protein kinase (MAPK) signalling pathway, and therefore can generally be classified by mutations within the B-Raf proto-oncogene (BRAF), RAS family of proto-oncogenes, neurofibromin 1 (NF1), or other genes. At the transcriptional level, several genetic classifications of melanoma have converged on the distinction between melanogenesis (previously microphthalmia) associated transcription factor (MITF)-low and MITF-high phenotypes and expression of immune-related genes. Mutation-based melanoma subtypes are not prognostic, nor are they associated to transcriptomic subtypes, which are in turn prognostic. Intratumoral heterogeneity of melanoma cells adds another layer of complexity, with recent findings of mutational and transcriptional heterogeneity within melanoma tumors. Furthermore, multiple genetic changes have been associated with different stages of melanoma progression. Mutational signatures may also be differentiated at early and late stages of melanoma progression.

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Abbreviations

cAMP:

Cyclic adenosine monophosphate

CDK:

Cyclin-dependent kinase

COSMIC:

Catalogue of Somatic Mutations in Cancer

CSD:

Chronic sun damage

DNA:

Deoxyribonucleic acid

EMA:

European Medicines Agency

FDA:

US Food and Drug Administration

ITH:

Intratumor heterogeneity

MAPK:

Mitogen-activated protein kinase

TCGA:

The Cancer Genome Atlas

UVB:

Ultraviolet B radiation

UVR:

Ultraviolet radiation

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Authors and Affiliations

  1. Faculty of Medicine, Department of Clinical Sciences Lund, Oncology and Pathology, Lund University, Lund, Sweden

    Katja Harbst M.Sc., Ph.D. & Göran Jönsson Ph.D.

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  1. Katja Harbst M.Sc., Ph.D.
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  2. Göran Jönsson Ph.D.
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Editors and Affiliations

  1. Louisiana State University, New Orleans, Louisiana, USA

    Adam I. Riker

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Harbst, K., Jönsson, G. (2018). The Genetic Evolution of Melanoma. In: Riker, A. (eds) Melanoma. Springer, Cham. https://doi.org/10.1007/978-3-319-78310-9_6

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  • DOI: https://doi.org/10.1007/978-3-319-78310-9_6

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