Mutations in the Retinoblastoma-related Gene RB2/p130 in Primary Nasopharyngeal Carcinoma
2000
Nasopharyngeal carcinoma (NPC) is an endemic cancer in southern China
and northern Africa, and its pathogenesis is not yet well defined at
the molecular level. Although the involvement of p53 and of the
retinoblastoma gene ( RB /p105) in NPC has been well
studied, there is paucity of mutational data regarding the
retinoblastoma-related gene RB2/p130 in primary tumors
and particularly in NPC. We have shown previously that
RB2/p130 could be rearranged in a nasopharyngeal cell
line. In the present study, we screened by single-strand conformation
polymorphism and sequence analysis the retinoblastoma-related gene
RB2/p130 for mutations within exons 19–22. Mutations in
the RB2/p130 gene were detected in 3 of 10 primary human
NPCs from Northern Africa (30%). These findings, along with previous
data showing that genetic replacement of RB2/p130
restores a normal growth pathway in the nasopharyngeal cell line
Hone-1, strengthen the hypothesis that genetic changes of
RB2/p130 may be involved in the development and/or
progression of nasopharyngeal cancer and suggest that
RB2/p130 could be considered a tumor suppressor gene and
may be a candidate for novel gene therapeutic approaches for NPC.
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