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[Cancer Research 60, 8-12, January 1, 2000]
© 2000 American Association for Cancer Research


Advances in Brief

Mutations in the Retinoblastoma-related Gene RB2/p130 in Primary Nasopharyngeal Carcinoma1

Pier Paolo Claudio, Candace M. Howard, Yan Fu, Caterina Cinti, Luigi Califano, Pietro Micheli, Edward W. Mercer, Mario Caputi and Antonio Giordano2

Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, and Sbarro Institute for Cancer Research and Molecular Medicine, Philadelphia, Pennsylvania 19107 [P. P. C., C. M. H., Y. F., A. G.]; Universitá degli Studi di Napoli "Federico II," Dipartimento di Scienze Odontostomatologiche e Maxillo Facciali, Napoli 80131, Italy [P. P. C., L. C.]; Istituto di Citomorfologia Normale e Patologica, Consiglio Nazionale delle Ricerche, 40136 Bologna, Italy [C. C.]; Servizio di Anatomia ed Istologia Patologica e Citologia Diagnostica, Azienda Ospedaliera "Cotugno," Napoli, Italy [P. M.]; Department of Microbiology and Immunology, Kimmel Cancer Center, Thomas Jefferson University, Philadelphia, Pennsylvania 19107 [E. W. M.]; and Istituto di Malattie dell’Apparato Respiratorio, II Universitá degli Studi di Napoli, Istituto di Ricerca Cardio-Pneumologica A. O. "Monaldi," Napoli, Italy [M. C.]

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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