Mutations in the retinoblastoma-related gene RB2/p130 in primary nasopharyngeal carcinoma

Nasopharyngeal carcinoma (NPC) is an endemic cancer in southern China and n orthern Africa, and its pathogenesis is not yet well defined at the molecul ar level. Although the involvement of p53 and of the retinoblastoma gene (R B/p105) in NPC has been well studied, there is paucity of mutational data r egarding the retinoblastoma-related gene RB2/p130 in primary tumors and par ticularly in NPC. We have shown previously that RB2/p130 could be rearrange d in a nasopharyngeal cell line. In the present study, we screened by singl e-strand conformation polymorphism and sequence analysis the retinoblastoma -related gene RB2/p130 for mutations within exons 19-22, Mutations in the R B2/p130 gene were detected in 3 of 10 primary human NPCs from Northern Afri ca (30%), These findings, along with previous data showing that genetic rep lacement of RB2/p130 restores a normal growth pathway in the nasopharyngeal cell line Hone-1, strengthen the hypothesis that genetic changes of RB2/p1 30 may be involved in the development and/or progression of nasopharyngeal cancer and suggest that RB2/p130 could he considered a tumor suppressor gen e and may be a candidate for novel gene therapeutic approaches for NPC.