Hereditary melanoma: Update on syndromes and management : Genetics of familial atypical multiple mole melanoma syndrome - 16/02/16
Abstract |
Malignant melanoma is considered the most lethal skin cancer if it is not detected and treated during its early stages. About 10% of melanoma patients report a family history of melanoma; however, individuals with features of true hereditary melanoma (ie, unilateral lineage, multigenerational, multiple primary lesions, and early onset of disease) are in fact quite rare. Although many new loci have been implicated in hereditary melanoma, CDKN2A mutations remain the most common. Familial melanoma in the presence of multiple atypical nevi should raise suspicion for a germline CDKN2A mutation. These patients have a high risk of developing multiple primary melanomas and internal organ malignancies, especially pancreatic cancer; therefore, a multidisciplinary approach is necessary in many cases. The value of dermoscopic examination and total body photography performed at regular intervals has been suggested by a number of studies, and should therefore be considered for these patients and their first-degree relatives. In addition, genetic counseling with the possibility of testing can be a valuable adjunct for familial melanoma patients. This must be performed with care, however, and only by qualified individuals trained in cancer risk analysis.
Le texte complet de cet article est disponible en PDF.Key words : CDK4, CDKN2A, familial melanoma syndromes, FAMMM, melanoma genetics, mixed cancer syndromes
Plan
Supported by National Institutes of Health grant K24 CA149202 (Dr Tsao) and by the generous donors to Massachusetts General Hospital on behalf of melanoma research. |
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Conflicts of interest: None declared. |
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Reprints not available from the authors. |
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Date of release: March 2016 |
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Expiration date: March 2019 |
Vol 74 - N° 3
P. 395-407 - mars 2016 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
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