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Concomitant p53 mutation and MYCN amplification in neuroblastoma

✍ Scribed by Manhani, Reinaldo; Cristofani, Lilian Maria; Filho, Vicente; Bendit, Israel

Publisher
John Wiley and Sons
Year
1997
Tongue
English
Weight
140 KB
Volume
29
Category
Article
ISSN
0098-1532

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✦ Synopsis

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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