Novel small deletions of the p53 gene in late‐stage B‐cell chronic lymphocytic leukaemia

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Abstract
Summary . A group of 20 CLL patients selected for advanced clinical stage p53 mutations were analysed by single‐strand conformational polymorphism (SSCP) following PCR amplification of exons 5–9. In two patients abnormal SSCP of either exon 5 or exon 8 was found and PCR products were analysed by direct sequencing. A hemizygous or homozygous 12bp deletion at codon 135 and 3bp heterozygous deletion at codon 264 were detected; also, in the latter sample a heterozygous mutation at codon 282 (Arg to Gln) was found. To our knowledge, this is the first report of p53 deletions in B‐CLL. The two patients were elderly, and both had a rapidly progressive disease in the absence of unfavourable cytogenic abnormalities. These findings support a role for p53 alterations in the clinical course of some B‐CLL patients.