Abstract
BACKGROUND: Perforin gene (PRF1) mutations have been reported in patients with lymphoma, but the prevalence and characteristics of PRF1 mutation have not been identified in Chinese patients with lymphoma. METHODS: Seventy-seven patients with lymphoma, including 6 patients with Hodgkin lymphoma and 71 patients with non-Hodgkin lymphoma, were recruited. DNA samples from peripheral blood were used for PRF1 mutation detection by the PCR-sequencing method. RESULTS: Eleven novel PRF1 mutations were found in 8 of the 77 patients with lymphoma. Biallelic or compound monoallelic missense mutations in 3 patients indicated the severe impairment of perforin function, monoallelic missense mutations in 3 patients possibly contributed a genetic predisposition to malignancies, and synonymous mutations in 2 patients showed unknown significance. CONCLUSIONS: The frequency of EBV infection was similar in lymphoma patients with PRF1 mutations and those without the mutations. The same PRF1 mutations were also found in DNA samples from nails or hair follicles from 4 patients with PRF1 mutations, suggesting that these mutations may be of germ-line origin.