Hereditary melanoma: Update on syndromes and management : Emerging melanoma cancer complexes and genetic counseling - 16/02/16
Abstract |
Recent advances in cancer genomics have enabled the discovery of many cancer-predisposing genes that are being used to classify new familial melanoma/cancer syndromes. In addition to CDKN2A and CDK4, germline variants in TERT, MITF, and BAP1 have been added to the list of genes harboring melanoma-predisposing mutations. These newer entities may have escaped earlier description in part because of more advanced technologies now being used and in part because of their mixed cancer phenotype as opposed to a melanoma-focused syndrome. Dermatologists should be aware of (and be able to recognize) the clinical signs in high-risk patients in different contexts. Personal and family histories of cancer should always be sought in patients with multiple nevi or a positive history for melanoma, and should be updated annually. Various features that are unique to specific disorders, such as the appearance of melanocytic BAP1-mutated atypical intradermal tumors in cases of BAP1 melanoma syndrome, should also be recognized early. These patients should be offered regular screenings with the use of dermoscopy and total body photography, as needed. More importantly, referral to other specialists may be needed if a risk for internal malignancy is suspected. It is important to have in mind that these patients tend to develop multiple melanomas, along with various internal organ malignancies, often at younger ages; a multidisciplinary approach to their cancer screening and treatment is ideal.
Le texte complet de cet article est disponible en PDF.Key words : BAP1, familial melanoma syndrome, melanoma genetics, MITF, mixed cancer syndromes, PTEN, TERT
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. |
|
Conflicts of interest: None declared. |
|
Reprints not available from the authors. |
|
Date of release: March 2016 |
|
Expiration date: March 2019 |
Vol 74 - N° 3
P. 411-420 - mars 2016 Retour au numéroBienvenue sur EM-consulte, la référence des professionnels de santé.
L’accès au texte intégral de cet article nécessite un abonnement.
Déjà abonné à cette revue ?