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Concomitant p53 mutation and MYCN amplification in neuroblastoma
R Manhani1, L M Cristofani, V Odone Filho
1Research and Molecular Biology Division, Pró-Sangue Hemocentro de São Paulo Foundation, Brazil.
Medical and Pediatric Oncology
|September 1, 1997
Abstract:
The MYCN oncogene is amplified in 20% of childhood neuroblastoma and is associated independently with poor prognosis. Alteration of the p53 tumor supressor gene, in contrast, occurs infrequently in these tumors. In this report, we described a 3-year-old girl with stage IV neuroblastoma. Molecular analysis revealed, both MYCN gene amplification and a point mutation of the p53 tumor supressor gene. To our knowledge, this is the first reported case of neuroblastoma with genetic alterations of both these genes.