Przegląd Dermatologiczny (Jul 2011)
Analiza mutacji p14 i p16 w czerniaku skóry
Abstract
Introduction. Cutaneous melanoma is a malignant tumour derivedfrom melanocytes that occurs primarily in the skin. It is a result of prolongedexposure to mutagenic factors and an abnormal DNA repairsystem. The pathogenesis of this tumour is complex and depends toa large extent on inactivation of the CDKN2A gene, whose proteinproducts are involved in cell cycle control. The CDKN2A gene encodestwo transcripts – p16 protein, which is an inhibitor of cyclin-dependentkinases (CDK4/CDK6), and p14ARF protein, responsible for stabilizarozpoznationof p53. Mutations in the CDKN2A gene can significantly impair thebiological functions of these two proteins, and may contribute to theirexcessive or inadequate expression and consequently lead to malignancy.Numerous scientific studies have linked mutations in p14 andp16 in the CDKN2A gene with melanoma incidence.Objective. Analysis of p14 and p16 mutations in cutaneous melanomain a test group of 40 tumours.Material and methods. The material consisted of paraffin-fixed biopsieswith a diagnosis of melanoma confirmed histologically andimmunomorphologically. In order to detect the mutation PCR-SSCPwas used.Results. Molecular mutations of p14 and p16 proteins in the CDKN2Agene were detected in 38 out of 40 examined tissues. This represents95% of melanoma biopsies. Mutations were detected in all three exonsof the CDKN2A gene, with the greatest frequency in the second andthird exon.Conclusion. Our results indicate that mutations in p16 and p14 of theCDKN2A gene are associated with cutaneous melanoma.
