High Prevalence of Mutations in the p53 Gene in Poorly Differentiated Squamous Cell Carcinomas in Xeroderma Pigmentosum Patients

Abstract

Mutations in the p53 gene were analyzed in 23 squamous cell carcinomas (SCCs) and five basal cell carcinomas from 10 xeroderma pigmentosum patients in Tunisia. Fourteen mutations were detected. Most occurred at the dipyrimidine sequences of DNA, suggesting that they were caused by ultraviolet light. A strong correlation was noted between the presence of the p53 mutations and clinical characteristics such as histology and growth of SCC. In well-differentiated grade 1 SCCs, three (27.3%) of 11 tumors had the p53 gene mutations, whereas in grade 2 and grade 3 SCCs, six (85.7%) of seven tumors had the p53 gene mutations (p < 0.05). Tumors less than 8.0 mm in diameter showed a relatively low frequency of mutation (two of 10 tumors, 20.0%), whereas most of the tumors larger than 8.1 mm (seven of eight tumors, 87.5%) had mutations of the p53 gene (p < 0.025). Multiple tumors in the same xeroderma pigmentosum patients also showed this relation. These results suggest that mutations in the p53 gene lead to the invasive and rapid-growing character of SCC.