Analysis of the p53 gene in myeloid malignancies associated with chromosomal abnormalities involving the short arm of chromosome 17.
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.
Rege-Cambrin
G
G
Dipartimento di Scienze Biomediche e Oncologia Umana, Università di Torino, Italy.
Gaidano
G
G
Serra
A
A
Scaravaglio
P
P
Guglielmelli
T
T
Guerrasio
A
A
Giovinazzo
B
B
Saglio
G
G
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