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Italian Journal of Dermatology and Venereology 2021 May 13

DOI: 10.23736/S2784-8671.21.06957-1


language: English

Genetic markers for characterization and prediction of prognosis of melanoma subtypes: a 2021 update

Sebastian PODLIPNIK 1, 2, Miriam POTRONY 3, 4, Susana PUIG 1, 2, 3

1 Department of Dermatology, Hospital Clínic de Barcelona, University of Barcelona, Barcelona, Spain; 2 Institut d’Investigacions Biomèdiques August Pi I Sunyer (IDIBAPS), Barcelona, Spain; 3 Centro de Investigación Biomédica en Red de Enfermedades Raras (CIBERER), Barcelona, Spain; 4 Biochemistry and Molecular Genetics Department, Hospital Clínic de Barcelona, Barcelona, Spain


In this article we examine the most important genetic markers involved in melanoma susceptibility, initiation and progression, and their impact on the prognosis of the disease. Current knowledge in melanoma genetics identifies distinct pathways to the development of different melanoma subtypes characterized by specific clinico-pathological features and partially known genetic markers, modulated by high, low or absence of cumulative sun damage. The most prevalent somatic mutations are related to the activation of the MAPK pathway, which are classified into four major subtypes: BRAF mutant, NRAS mutant, NF1 mutant and triple wild-type. Moreover, germinal mutations are also involved in the characterization and predictions of prognosis in melanoma. Currently, CDKN2A is seen as the main high-risk gene involved in melanoma susceptibility being mutated in around 20% of melanoma-prone families. Other high-risk susceptibility genes described include CDK4, POT1, BAP1, TERT promoter, ACD, and TERF2IP. Melanoma is one of the most genetically predisposed among all cancers in humans, and ultraviolet light from the sun is the main environmental factor. This genetic predisposition is starting to be understood, impacting not only on the risk of developing melanoma but also on the risk of developing other types of cancer, as well as on the prognosis of the disease.

KEY WORDS: Melanoma; Genetic markers; Prognosis; Genetic predisposition to disease

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