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Med Pediatr Oncol. 1997 Sep;29(3):206-7.

Concomitant p53 mutation and MYCN amplification in neuroblastoma.

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1
Research and Molecular Biology Division, Pró-Sangue Hemocentro de São Paulo Foundation, Brazil.

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.

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