Search

Summary: Background: Promoter methylation of tumour suppressor genes (TSGs) has recently been implicated in the pathogenesis of several types of cancer. Regarding melanoma, over 100 genes that contribute to its pathogenesis have been identified to be aberrantly hypermethylated. Objectives: This is a retrospective observational study that aims to analyse the prevalence of CpG island methylation in a series of primary melanomas, to identify the associations with the main clinicopathological features, and to explore the prognostic significance of methylation in melanoma survival. Materials and methods: DNA methylation was analysed using methylation‐specific multiplex ligation‐dependent probe amplification in a series of 170 melanoma formalin‐fixed paraffin‐embedded tumour samples. The relationship between the methylation status, known somatic mutations and clinicopathological features was evaluated. Disease‐free survival (DFS) and overall survival (OS) were displayed by the Kaplan–Meier method. Results: In the entire cohort, one or more genes were detected to be methylated in 55% of the patients. The most prevalent methylated genes were RARB 31%, PTEN 24%, APC 16%, CDH13 16%, ESR1 14%, CDKN2A 6% and RASSF1 5%. An association between aberrant methylation and aggressive clinicopathological features was observed (older age, increased Breslow thickness, presence of mitosis and ulceration, fast‐growing melanomas, advancing stage and TERT mutations). Furthermore, Kaplan–Meier survival analysis showed a correlation of methylation and poorer DFS and OS. Conclusions: Aberrant methylation of TSGs is a frequent event in melanoma. It is associated with aggressive clinicopathological features and poorer survival. Epigenetic alterations may represent a significant prognostic marker with utility in routine practice. [ABSTRACT FROM AUTHOR]

Xeroderma pigmentosum (XP) is an autosomal recessive disease in which patients have a 1000-fold increased risk of developing cutaneous neoplasms. Management of patients with XP is a difficult therapeutic challenge as they usually present with many cutaneous malignancies and continue to form skin tumours at a high rate. We describe a 19-year-old woman with XP who had been previously treated with many different therapeutic approaches. She had an excellent clinical response of her multiple small pigmented basal cell carcinomas and pigmentary changes using imiquimod 5% cream with only minor side-effects. [ABSTRACT FROM AUTHOR]