Melanoma pp 105-114 | Cite as

The Genetic Evolution of Melanoma

  • Katja Harbst
  • Göran Jönsson


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.


Melanoma Genomic Heterogeneity Subtype classification Progression Evolution 



Cyclic adenosine monophosphate


Cyclin-dependent kinase


Catalogue of Somatic Mutations in Cancer


Chronic sun damage


Deoxyribonucleic acid


European Medicines Agency


US Food and Drug Administration


Intratumor heterogeneity


Mitogen-activated protein kinase


The Cancer Genome Atlas


Ultraviolet B radiation


Ultraviolet radiation


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Copyright information

© Springer International Publishing AG, part of Springer Nature 2018

Authors and Affiliations

  • Katja Harbst
    • 1
  • Göran Jönsson
    • 1
  1. 1.Faculty of Medicine, Department of Clinical Sciences Lund, Oncology and PathologyLund UniversityLundSweden

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