title: p53 mutations in hairy cell leukemia.
abstract: We have studied the frequency of p53 mutations in genomic DNA extracted from peripheral blood or the spleen of 61 patients with hairy cell leukemia using PCR-SSCP and automated cycle sequencing. We identified exon 5-8 mutations in 17 cases, corresponding to a frequency of 28%. In four cases, mutations were localized in exon 5; one patient with atypical HCL had a mutation in exon 6 at the 3' boundary; five cases showed mutations in exon 7, while exon 8 was found to be mutated in seven cases. The mutations found could be divided into three major categories: structural (n=9), inactivating (n= 6), and neutral (n= 2) mutations. None of the three transitions found occurred at CpG dinucleotides. The rate of p53 mutations found in this large cohort of HCL patients is unexpectedly high as in other non-Hodgkin lymphomas p53 mutations predict for poor treatment outcome. The character of the mutations we have found is entirely different from that described in other hematologic malignancies.
authors.affiliation: Department of Molecular Genetics, Semmelweis University, School of Medicine, Budapest, Hungary.
authors.forename: E A
authors.initials: EA
authors.lastname: König
authors.forename: W C
authors.initials: WC
authors.lastname: Kusser
authors.forename: C
authors.initials: C
authors.lastname: Day
authors.forename: F
authors.initials: F
authors.lastname: Porzsolt
authors.forename: B W
authors.initials: BW
authors.lastname: Glickman
authors.forename: G
authors.initials: G
authors.lastname: Messer
authors.forename: M
authors.initials: M
authors.lastname: Schmid
authors.forename: R
authors.initials: R
authors.lastname: de Châtel
authors.forename: Z L
authors.initials: ZL
authors.lastname: Marcsek
authors.forename: J
authors.initials: J
authors.lastname: Demeter
mesh_terms: D000328:Adult; D000368:Aged; D019943:Amino Acid Substitution; D002453:Cell Cycle; D003062:Codon; D015331:Cohort Studies; D018899:CpG Islands; D004252:DNA Mutational Analysis; D004273:DNA, Neoplasm / Q000097:blood / Q000235:genetics; D005260:Female; D016158:Genes, p53; D006801:Humans; D007943:Leukemia, Hairy Cell / Q000235:genetics* / Q000401:mortality / Q000473:pathology; D008228:Lymphoma, Non-Hodgkin / Q000235:genetics / Q000401:mortality; D008297:Male; D008875:Middle Aged; D009154:Mutation; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011379:Prognosis; D017384:Sequence Deletion; D013154:Spleen / Q000737:chemistry
chemical_list: D003062:Codon; D004273:DNA, Neoplasm