title: Mutations of the p53 gene in B-cell chronic lymphocytic leukemia: a report on 39 cases with cytogenetic analysis.
abstract: Mutations of exons 5 to 8 of the p53 gene were looked for in 39 cases of B-cell chronic lymphocytic leukemia (CLL) using polymerase chain reaction single-strand conformation polymorphism analysis and DNA sequencing. All patients also had cytogenetic analysis. A point mutation, leading to an amino acid change in the p53 protein was found in four cases, involving exon 7 (one case) or exon 8 (three cases). Mutations seemed to predominate in advanced clinical stages (Binet's stage C). All four patients with 17p monosomy had a mutation whereas no mutation was found in the 35 patients with cytogenetically normal 17p. These findings suggest that p53 mutations are relatively rare in B-cell CLL, and largely predominate or may even be restricted to patients with 17p monosomy (who constitute about 5% of all B-cell CLL patients in large published series). In those patients, the mutations may play a role in leukemogenesis through loss of tumor suppressive activity of normal p53 genes.
authors.affiliation: Service des Maladies du Sang, CHU, Lille, France.
authors.forename: P
authors.initials: P
authors.lastname: Fenaux
authors.forename: C
authors.initials: C
authors.lastname: Preudhomme
authors.forename: J L
authors.initials: JL
authors.lastname: Laï
authors.forename: I
authors.initials: I
authors.lastname: Quiquandon
authors.forename: P
authors.initials: P
authors.lastname: Jonveaux
authors.forename: M
authors.initials: M
authors.lastname: Vanrumbeke
authors.forename: C
authors.initials: C
authors.lastname: Sartiaux
authors.forename: P
authors.initials: P
authors.lastname: Morel
authors.forename: M H
authors.initials: MH
authors.lastname: Loucheux-Lefebvre
authors.forename: F
authors.initials: F
authors.lastname: Bauters
mesh_terms: D000368:Aged; D002886:Chromosomes, Human, Pair 17; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000378:metabolism; D004277:DNA, Single-Stranded / Q000378:metabolism; D005091:Exons; D005260:Female; D016158:Genes, p53; D006801:Humans; D007621:Karyotyping; D015451:Leukemia, Lymphocytic, Chronic, B-Cell / Q000235:genetics* / Q000378:metabolism; D008297:Male; D008875:Middle Aged; D009006:Monosomy; D009154:Mutation; D009691:Nucleic Acid Denaturation; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic
chemical_list: D004273:DNA, Neoplasm; D004277:DNA, Single-Stranded