title: Analysis of the p53 gene in myeloid malignancies associated with chromosomal abnormalities involving the short arm of chromosome 17.
abstract: p53 protein is encoded by a tumor-suppressor gene located on the short arm of chromosome 17. We looked for mutations or rearrangements of the p53 gene in five patients with acute transformation of a chronic myeloproliferative disorder and cytogenetic anomalies involving the short arm of chromosome 17. Two patients had a isochromosome i(17q); three more patients showed the presence of unbalanced translocations involving chromosome 17. One of these patients had a single base pair deletion, causing a frameshift mutation, in the exon 5 of the p53 gene. The karyotype of this patient showed a translocation t(5;17)(q11;p11), with loss of a normal homologue of both chromosomes 5 and 17. In all other cases the configuration of the p53 gene, as tested by PCR-SSCP analysis of exons 5 to 9 and Southern blot, was normal. Our data suggest that mutations of the p53 gene occur in a minority of hemopoietic malignancies characterized by monosomy for the short arm of chromosome 17. However, the unbalanced translocation t(5q;17p) could be a chromosomal abnormality specifically associated with loss of function of the p53 gene.
authors.affiliation: Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Rege-Cambrin
authors.forename: G
authors.initials: G
authors.lastname: Gaidano
authors.forename: A
authors.initials: A
authors.lastname: Serra
authors.forename: P
authors.initials: P
authors.lastname: Scaravaglio
authors.forename: T
authors.initials: T
authors.lastname: Guglielmelli
authors.forename: A
authors.initials: A
authors.lastname: Guerrasio
authors.forename: B
authors.initials: B
authors.lastname: Giovinazzo
authors.forename: G
authors.initials: G
authors.lastname: Saglio
mesh_terms: D001483:Base Sequence; D001752:Blast Crisis / Q000235:genetics; D002869:Chromosome Aberrations; D002886:Chromosomes, Human, Pair 17; D016158:Genes, p53; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics; D007951:Leukemia, Myeloid / Q000235:genetics*; D008969:Molecular Sequence Data; D009196:Myeloproliferative Disorders / Q000235:genetics