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.
Manhani
R
R
Research and Molecular Biology Division, Pró-Sangue Hemocentro de São Paulo Foundation, Brazil.
Cristofani
L M
LM
Odone Filho
V
V
Bendit
I
I
D015139:Blotting, Southern; D002675:Child, Preschool; D004273:DNA, Neoplasm / Q000032:analysis; D005091:Exons / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D005784:Gene Amplification; D016259:Genes, myc / Q000235:genetics*; D016158:Genes, p53 / Q000235:genetics*; D006801:Humans; D009367:Neoplasm Staging; D009447:Neuroblastoma / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation / Q000235:genetics*; D011379:Prognosis; D017422:Sequence Analysis, DNA
D004273:DNA, Neoplasm