title: P53 gene mutations in chronic myelogenous leukemia medullary and extramedullary blast crisis.
abstract: Molecular alterations of the P53 gene were investigated in 27 unselected patients with chronic myelogenous leukemia (CML) blast crisis. A rearrangement of the P53 gene was evident by Southern blotting in 3 cases, one of which also showed the same alteration in the chronic phase. Single strand conformation polymorphism and sequencing analysis showed point mutations in 4 blast crisis cases. Of interest, P53 point mutations were evident in all the 3 cases of extramedullary blast crisis examined and the same point mutation was found in the myeloblastoma tissues and in the subsequent peripheral blast cells. These data indicate that: a) P53 gene mutations occur in a significant but not a large number of CML acute phase cases; b) P53 gene point mutations seem to correlate strongly with the infrequent extramedullary presentation of the blast crisis; c) the presence of the same P53 gene point mutation in extramedullary and bone marrow blast cells confirms the common clonal origin of the two cellular populations.
authors.affiliation: Department of Medical Sciences, University of Modena, Italy.
authors.forename: R
authors.initials: R
authors.lastname: Marasca
authors.forename: M
authors.initials: M
authors.lastname: Luppi
authors.forename: P
authors.initials: P
authors.lastname: Barozzi
authors.forename: M G
authors.initials: MG
authors.lastname: Ferrari
authors.forename: M
authors.initials: M
authors.lastname: Morselli
authors.forename: G
authors.initials: G
authors.lastname: Torelli
mesh_terms: D001752:Blast Crisis; D015152:Blotting, Northern; D015139:Blotting, Southern; D001855:Bone Marrow Diseases / Q000235:genetics* / Q000473:pathology; D018450:Disease Progression; D015321:Gene Rearrangement; D016158:Genes, p53; D006801:Humans; D015464:Leukemia, Myelogenous, Chronic, BCR-ABL Positive / Q000235:genetics* / Q000473:pathology; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D018807:Polymorphism, Single-Stranded Conformational; D017422:Sequence Analysis, DNA