Concomitant p53 mutation and MYCN amplification in neuroblastoma

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. Med. Pediatr. Oncol. 29:206–207, 1997. © 1997 Wiley‐Liss, Inc.