TP53 mutations and polymorphisms in primary myelofibrosis

Am J Hematol. 2012 Feb;87(2):204-6. doi: 10.1002/ajh.22216. Epub 2011 Nov 4.


A total of 107 patients with chronic-phase primary myelofibrosis (PMF) were screened for TP53 mutations, which were detected in 4 (4%) cases: (i) E204E; GAG>GAA (silent exon 6); (ii) G245D; GGC>GAC (exon 7); (iii) R175H; CGC>CAC (exon 5); and (iv) six base insert (GGCGAG) after bp13767 (exon 6). Three (75%) of the four TP53-mutated cases also carried JAK2V617F whereas none were positive for MPL or IDH mutations. Two of the four TP53 mutated cases were also screened for TET2, ASXL1, DNMT3A, and EZH2 mutations and were negative. There was no significant difference in presenting features or survival between TP53 mutated and unmutated cases. TP53 exon 4 single nucleotide polymporphism (SNPs) data for codon 72 were available on 104 patients and included 56% with homozygous Arg72Arg, 33% with heterozygous Pro72Arg, and 11% with homozygous Pro72Pro. There were no significant differences among the three codon 72 genotypes in terms of presenting characteristics or survival.

MeSH terms

  • Aged
  • Aged, 80 and over
  • Chronic Disease
  • DNA Mutational Analysis
  • Exons
  • Female
  • Humans
  • Janus Kinase 2 / genetics
  • Male
  • Middle Aged
  • Mutation*
  • Polymorphism, Genetic*
  • Primary Myelofibrosis / diagnosis
  • Primary Myelofibrosis / genetics*
  • Primary Myelofibrosis / mortality
  • Prognosis
  • Survival Analysis
  • Tumor Suppressor Protein p53 / genetics*


  • Tumor Suppressor Protein p53
  • JAK2 protein, human
  • Janus Kinase 2