A new mutation of the p53 gene in human neuroblastoma, not correlated with N-myc amplification

N-myc gene amplification and/or loss of heterozygosity of chromosome 1 (LOH 1p) are important criteria for prognosis and progression in human neuroblastoma (NB). Despite the high incidence of alterations of the p53 gene in human cancers, very few p53 mutations have been reported in NE. The objective of our study was to search for p53 mutations in NE and their correlation with N-myc amplification and clinical or pathologic parameters. We analyzed 14 selected cases of NE from the Spanish Protocol N-II-92. We found a missense mutation in codon 248 CGG to GGG (Arg/Gly) in one case of stage 4 NB with no N-myc amplification. Our results confirm the low incidence of p53 gene mutation in neuroblastoma and the absence of correlation with histopathologic parameters.