[Recommendations for genetic testing and management of individuals genetically at-risk of cutaneous melanoma].

[Article in French]

Avril MF1, Bahadoran P2, Cabaret O3, Caron O4, de la Fouchardière A5, Demenais F6, Desjardins L7, Frébourg T8, Hammel P9, Leccia MT10, Lesueur F11,Mahé E12, Martin L13, Maubec E14, Remenieras A15, Richard S16, Robert C17, Soufir N18, Stoppa-Lyonnet D19, Thomas L20, Vabres P21, Bressac-de Paillerets B22.

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Abstract

Cutaneous melanoma is a multifactorial disease resulting from both environmental and genetic factors. Five susceptibility genes have been identified over the past years, comprising high-risk susceptibility genes (CDKN2A, CDK4, and BAP1 genes) and intermediate-risk susceptibility genes (MITF, and MC1R genes). The aim of this expert consensus was to define clinical contexts justifying genetic analyses, to describe the conduct of these analyses, and to propose surveillance recommendations. Given the regulatory constraints, it is recommended that dermatologists work in tandem with a geneticist. Genetic analysis may be prescribed when at least two episodes of histologically proven invasive cutaneous melanoma have been diagnosed before the age of 75 years in two 1st or 2nd degree relatives or in the same individual. The occurrence in the same individual or in a relative of invasive cutaneous melanoma with ocular melanoma, pancreatic cancer, renal cancer, mesothelioma or a central nervous system tumour are also indications for genetic testing. Management is based upon properly managed photoprotection and dermatological monitoring according to genetic status. Finally, depending on the mutated gene and the familial history, associated tumour risks require specific management (e.g. ocular melanoma, pancreatic cancer). Due to the rapid progress in genetics, these recommendations will need to be updated regularly.