A paragraph describing the group
The Melanoma Unit research program of the Dept. of Dermatology includes three main lines of research: 1. Genetic susceptibility to malignant melanoma and nevogenicity. Somatic genetics of melanoma and nevus development; 2. Immunotherapy and new therapies for melanoma 3. Dermoscopy, new diagnosis and prognosis techniques.
1. The melanoma group has focused particularly on the genetic aspects of the Familial Atypical Multiple Mole-Melanoma syndrome. FAMMM is an excellent example of a multi-factorial disorder in which gene-gene and gene-environment interactions play a crucial role. Our studies on a large collection of families with the FAMMM syndrome have demonstrated that 20% of the families had a mutation in the cell cycle regulator gene CDKN2A. 18% of patients with multiple primary melanomas in our setting are also carriers of CDKN2A mutations. In contrast, the incidence of mutations in sporadic melanomas is very low (1-2%). We have furthermore evaluated variants of the melanocortin 1 receptor (MC1R) gene as a modifier of melanoma risk. In addition, the role of UV light, DNA repair capacity, type of skin and degree of pigmentation in relation to melanoma risk is being investigated. Other genodermatosis and multifactorial cutaneous diseases are also investigated.
2. Our research in melanoma therapy is mainly focused on investigating new therapeutic strategies such as whole attenuated cell vaccines or autologous dendritic cell vaccines. Immunological assays are being performed to investigate host response to these vaccines and clinical trials are being developed to evaluate clinical responses. Furthermore, several therapeutic protocols of chemotherapy, biochemotherapy and/or radiotherapy are being conducted to investigate new treatment strategies.
3. Dermoscopy is a non-invasive technique focused on the diagnosis of pigmented tumors. The accuracy of melanoma diagnosis improves with the use of this technique. Special surveillance programs including total body photography and digital dermoscopy follow-up are being developed for the early diagnosis of melanoma in melanoma kindreds and in individuals with high risk to develop melanoma. Exhaustive analysis of false-negative and false-positive melanomas (by naked eye and dermoscopy), morphological description of non-melanocytic cutaneous tumors and the application of dermoscopy in non-tumoral diseases are also being investigated. |
