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Updated: May 27, 2026

Yeast As a Chassis for Developing Functional Assays to Study Human P53
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Published on: August 4, 2019

TP53 mutations and polymorphisms in primary myelofibrosis.

Sania Raza1, David Viswanatha, Lori Frederick

  • 1Division of Hematology, Department of Medicine, Mayo Clinic, Rochester, MN 55905, USA.

American Journal of Hematology
|November 5, 2011
PubMed
Summary

TP53 mutations are rare in chronic-phase primary myelofibrosis (PMF), occurring in 4% of patients. These mutations did not significantly impact patient presentation or survival in this study.

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Published on: September 20, 2016

Area of Science:

  • Hematology
  • Oncology
  • Molecular Biology

Background:

  • Primary myelofibrosis (PMF) is a chronic myeloid neoplasm characterized by bone marrow fibrosis.
  • Genetic mutations play a crucial role in the pathogenesis and prognosis of PMF.
  • TP53 mutations are known drivers in various cancers, but their role in PMF requires further elucidation.

Purpose of the Study:

  • To investigate the frequency and spectrum of TP53 mutations in patients with chronic-phase primary myelofibrosis.
  • To analyze the co-occurrence of TP53 mutations with other common PMF-associated mutations (JAK2, MPL, IDH).
  • To evaluate the impact of TP53 mutations and TP53 codon 72 polymorphisms on clinical presentation and survival in PMF.

Main Methods:

  • Screening of 107 chronic-phase PMF patients for TP53 mutations using sequencing.
  • Detection of specific TP53 mutations including missense and insertional variants.
  • Analysis of co-mutations with JAK2V617F, MPL, IDH, TET2, ASXL1, DNMT3A, and EZH2.
  • Assessment of TP53 exon 4 codon 72 single nucleotide polymorphism (SNP) genotypes.
  • Comparison of clinical features and survival between TP53 mutated and unmutated groups.

Main Results:

  • TP53 mutations were detected in 4% (4 out of 107) of PMF patients.
  • Common TP53 mutations included missense variants (G245D, R175H) and an insertional mutation.
  • Three of the four TP53-mutated cases also harbored the JAK2V617F mutation.
  • No significant differences in presenting characteristics or survival were observed between TP53 mutated and unmutated patients.
  • TP53 codon 72 polymorphism (Arg72Arg, Pro72Arg, Pro72Pro) did not correlate with clinical presentation or survival.

Conclusions:

  • TP53 mutations are infrequent in chronic-phase PMF.
  • The presence of TP53 mutations in PMF does not appear to influence clinical outcomes or survival.
  • TP53 codon 72 polymorphisms do not seem to affect the clinical course of PMF.