A novel 8-bp insertion in codon 281 of p53 in a patient with acute lymphoblastic leukaemia and 2 separate leukaemic clones. Mutations in brief no. 219. Online

Hum Mutat. 1999;13(2):172. doi: 10.1002/(SICI)1098-1004(1999)13:2<172::AID-HUMU17>3.0.CO;2-N.

Abstract

We report a novel p53 insertion in a case of aggressive acute lymphoblastic leukaemia in a 16 year old male, in which 2 separate leukaemic clones were previously identified by T-cell receptor sigma and immunoglobulin heavy chain gene rearrangement studies. Initial p53 mutation screening of blast cells from 29 patients with acute leukaemia by PCR-denaturing gradient gel electrophoresis showed that 2 had a silent codon 213 polymorphism and only the index case had a somatic mutation identified to be an 8 bp insertion in codon 281 (5'CCGGGGGG-3'). This insertion was associated with the second, more aggressive clone which underwent clonal evolution and became resistant to cytotoxic chemotherapy. With an allele-specific primer in PCR, we were able to demonstrate the presence of this clone as a minority at disease presentation, and in 2 of 3 collections of peripheral blood progenitor cells.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • Clone Cells
  • Codon / genetics*
  • DNA Transposable Elements
  • Humans
  • Male
  • Mutation / genetics
  • Precursor Cell Lymphoblastic Leukemia-Lymphoma / genetics*
  • Tumor Cells, Cultured
  • Tumor Suppressor Protein p53 / genetics*

Substances

  • Codon
  • DNA Transposable Elements
  • Tumor Suppressor Protein p53