Detection of human papillomavirus DNA and p53 gene mutations in esophagealcancer samples and adjacent normal mucosa

Background/Aim: There is evidence of a possible etiological role of human p apillomaviruses (HPVs) in the development of esophageal tumors. Loss of fun ction of the wild-type p53 tumor suppressor gene product by binding to E6 o ncoproteins of high-risk HPVs is considered an important event in tumor dev elopment. The aim of this study was to verify the prevalence of HPV infecti on and p53 mutation in esophageal tumor tissue samples and in the adjacent normal mucosa in patients from a high-risk area in Italy. Methods: DNA from 33 biopsy specimens (17 tumor sample biopsies and 16 samples of adjacent n ormal mucosa) was screened for HPV DNA using two polymerase chain reaction based procedures. Restriction fragment length polymorphism analysis was use d for typing. Screening of p53 mutations was performed with polymerase chai n reaction-single strand conformation polymorphism analysis and DNA sequenc ing. Results: Overall, 8 of 17 patients presented HPV DNA; HPV 16 was detec ted in 4 of 8 samples. Samples from tumors and adjacent mucosa were positiv e for mucosal HPVs in 7 of 17 and 4 of 16 cases, respectively, in 1 case, H PV DNA was detected in the normal mucosa only. None of the samples containe d HPVs of the epidermodysplasia verruciformis or cutaneous groups. Mutation s of p53 were detected in two HPV DNA negative samples. In both cases, the mutation was present in the tumor only. Conclusions: Our results are in fav or of the involvement of both aberrant p53 expression and HPV infection in the development of esophageal tumors. The high HPV infection rate in patien ts from a high-risk region suggests that subjects harboring HPVs (in partic ular HPV 16) in the esophagus should be considered at risk of esophageal ma lignancies. Copyright (C) 2001 S. Karger AG, Basel.