Mutations of the TP53 gene in acute myeloid leukemia are strongly associated with a complex aberrant karyotype

Leukemia. 2008 Aug;22(8):1539-41. doi: 10.1038/leu.2008.143. Epub 2008 Jun 5.


In acute myeloid leukemia (AML) with complex aberrant karyotype, a loss of one TP53 allele is frequently observed. We analyzed the incidence of TP53 mutations and deletions in 107 AML with complex aberrant karyotype. In 50 of 57 cases showing a loss of one TP53 allele, a TP53 mutation was detected in the remaining allele. In addition, in 33 of 50 cases with two TP53 copies, a TP53 mutation was found. Therefore, the frequency of TP53 mutations in AML with complex aberrant karyotype was 78%. In a second step, we analyzed TP53 mutations in a cohort of AML comprising different cytogenetic subgroups. TP53 mutations were detected in 33 of 235 cases (14%). Coincidences with other molecular mutations were rare. We confirmed a high incidence of TP53 mutations in AML with a complex aberrant karyotype (29/42, 69%) and demonstrated that TP53 mutations are very rare in AML without a complex aberrant karyotype (4/193, 2.1%).

MeSH terms

  • Cohort Studies
  • Genes, p53*
  • Histone-Lysine N-Methyltransferase
  • Humans
  • In Situ Hybridization, Fluorescence
  • Karyotyping
  • Leukemia, Myeloid, Acute / genetics*
  • Mutation*
  • Myeloid-Lymphoid Leukemia Protein / genetics
  • Nuclear Proteins / genetics


  • KMT2A protein, human
  • Nuclear Proteins
  • nucleophosmin
  • Myeloid-Lymphoid Leukemia Protein
  • Histone-Lysine N-Methyltransferase