Avril M-F, Bahadoran P, Cabaret O, Caron O, de la Fouchardière A, Demenais F, Desjardins L, Frébourg T, Hammel P, Leccia M-T, Lesueur F, Mahé E, Martin L, Maubec E, Remenieras A, Richard S, Robert C, Soufir N, Stoppa-Lyonnet D, Thomas L, Vabres P, Bressac-de Paillerets B
Service de dermatologie, groupe hospitalier Cochin-Saint-Vincent-de-Paul, AP-HP, pavillon Tarnier, 89, rue d'Assas, 75006 Paris, France.
Inserm U895, service de dermatologie, hôpital Archet 2, CHU, 151, route Saint-Antoine-Ginestiere, BP 79, 06200 Nice cedex 3, France.
Ann Dermatol Venereol. 2015 Jan;142(1):26-36. doi: 10.1016/j.annder.2014.09.606. Epub 2014 Nov 14.
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.
皮肤黑色素瘤是一种由环境和遗传因素共同导致的多因素疾病。在过去几年中,已确定了五个易感基因,包括高风险易感基因(CDKN2A、CDK4和BAP1基因)和中度风险易感基因(MITF和MC1R基因)。本专家共识的目的是确定进行基因分析的临床背景,描述这些分析的实施方法,并提出监测建议。考虑到监管限制,建议皮肤科医生与遗传学家合作。当在两名一级或二级亲属或同一个体中,在75岁之前至少有两次经组织学证实的侵袭性皮肤黑色素瘤发作时,可进行基因分析。同一个体或亲属中出现侵袭性皮肤黑色素瘤合并眼部黑色素瘤、胰腺癌、肾癌、间皮瘤或中枢神经系统肿瘤,也是基因检测的指征。管理基于根据基因状态进行适当的光防护和皮肤病学监测。最后,根据突变基因和家族史,相关肿瘤风险需要特定的管理(如眼部黑色素瘤、胰腺癌)。由于遗传学的快速发展,这些建议需要定期更新。