REVIEW  PRACTICAL RECOMMENDATIONS FOR THE MANAGEMENT OF SKIN CANCER PATIENTS 

Giornale Italiano di Dermatologia e Venereologia 2017 June;152(3):262-5

DOI: 10.23736/S0392-0488.17.05554-7

Copyright © 2017 EDIZIONI MINERVA MEDICA

language: English

Familial melanoma and multiple primary melanoma

Paola, DE SIMONE ¹, Michele VALIANTE ², Vitaliano SILIPO ³ ✉

¹ Oncological Dermatology, San Gallicano Institute for Research and Care, Rome, Italy; ² Laboratory of Medical Genetics, Department of Molecular Medicine, Sapienza University, San Camillo Forlanini Hospital, Rome, Italy; ³ Department of Oncology and Dermatology, San Gallicano Institute for Research and Care, Rome, Italy

Cutaneous melanoma (CM) has the highest mortality rates among the most common skin cancers, and its incidence is rising worldwide, thus representing a significant health care burden. CM is considered the most lethal skin cancer if not detected and treated during its early stages. Susceptibility to CM is also associated with an increased presence of atypical nevi and the occurrence of multiple primary melanoma. Personal history of CM increases the risk of developing a second melanoma by 5-8%. A family history of melanoma has also been strongly associated with an increased risk of melanoma. Approximately 5-10% of melanoma cases occur in a familial context. The main genes involved are CDKN2A, CDK4 and MC1R. The recent technological advances have allowed the identification of new genes involved in melanoma susceptibility: breast cancer 1 (BRCA1), BRCA1-associated protein 1 (BAP1), and telomerase reverse transcriptase (TERT).Tests on these genes allow to identify a larger number of high-risk individuals with a potential of developing familial melanoma and primary multiple melanomas. These patients also have a high risk of developing internal organ malignancies, especially pancreatic cancer. It is essential that these individuals receive adequate management along with frequent dermatological examinations, dermoscopic evaluation, genetic counselling and instrumental examinations aimed at the early identification of other tumors associated with CM.

KEY WORDS: Cutaneous malignant melanoma - BRCA1 genes - p16 genes - Cyclin-dependent kinase 4 - Human TERT protein