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RESEARCH PRODUCT
A New Mutation of the p53 Gene in Human Neuroblastoma, Not Correlated with N-myc Amplification
Antonio PellínSamuel NavarroAntonio Llombart-boschVictoria CastelCarmen Mejíasubject
0301 basic medicineChromosomeBiologyGene mutationmedicine.diseaseMolecular biologyPathology and Forensic MedicineLoss of heterozygosity03 medical and health sciences030104 developmental biology0302 clinical medicine030220 oncology & carcinogenesisNeuroblastomaGene duplicationmedicineCancer researchMissense mutationSurgeryAnatomyGeneN-Mycdescription
N-myc gene amplification and/or loss of heterozygosity of chromosome 1 (LOH lp) 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 NB. The objective of our study was to search for p53 mutations in NB and their correlation with N-myc amplification and clinical or pathologic parameters. We analyzed 14 selected cases of NB 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.
year | journal | country | edition | language |
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1999-07-01 | International Journal of Surgical Pathology |