title: Loss of heterozygosity and p53 polymorphism Pro72Arg in a young patient with medulloblastoma.
abstract: Differently from conventional primary neuroectodermal tumors (PNETs), molecular features of undifferentiated lesions have been poorly studied. Medulloblastoma and PNET neoplasms showed a high incidence of loss of heterozygosity (LOH) on chromosome 17p13, in the region of tumor suppressor gene p53. Recent studies have shown a significant correlation between the presence of p53 Arg72Pro polymorphism and several undifferentiated carcinomas. We performed molecular analysis in an anaplastic tumor of posterior fossa in a patient with a constitutional maternal translocation [46,XX,t(5;19)] and a history of headache, nausea and vomiting. We identified the presence of LOH at 17p13 and Pro72Arg polymorphism in tumor DNA. These molecular findings helped us better characterize this undifferentiated tumor and led to a more aggressive therapy.
authors.affiliation: Unita di Oncoematologia, Ospedale Pediatrico A. Meyer, I-50132 Florence, Italy. iacopo.sardi@unifi.it
authors.forename: Iacopo
authors.initials: I
authors.lastname: Sardi
authors.forename: Laura
authors.initials: L
authors.lastname: Giunti
authors.forename: Pierarturo
authors.initials: P
authors.lastname: Donati
authors.forename: Laura
authors.initials: L
authors.lastname: Lacitignola
authors.forename: Fabio
authors.initials: F
authors.lastname: Tucci
authors.forename: Luigi
authors.initials: L
authors.lastname: Sardo
authors.forename: Maria Luisa
authors.initials: ML
authors.lastname: Giovannucci Uzielli
authors.forename: Gabriella
authors.initials: G
authors.lastname: Bernini
mesh_terms: D002528:Cerebellar Neoplasms / Q000235:genetics* / Q000628:therapy; D002648:Child; D002886:Chromosomes, Human, Pair 17; D003937:Diagnosis, Differential; D005260:Female; D016158:Genes, p53 / Q000235:genetics*; D006261:Headache / Q000209:etiology; D006801:Humans; D019656:Loss of Heterozygosity; D008279:Magnetic Resonance Imaging; D008527:Medulloblastoma / Q000235:genetics* / Q000628:therapy; D009325:Nausea / Q000209:etiology; D011110:Polymorphism, Genetic; D014839:Vomiting / Q000209:etiology