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Frequency of JAK2V617F Mutation Zygosity and Impact on Disease Outcome in MPN Patients

Mushtaq M Khazeem1

  • 1Department of Molecular Biology, The National Center of Hematology, Mustansiriyah University, Baghdad 10015, Iraq.

Asian Pacific Journal of Cancer Prevention : APJCP
|March 1, 2025
PubMed
Abstract

Insights

JAK2V617F zygosity in myeloproliferative neoplasms (MPN) correlates with disease severity. Homozygous JAK2V617F mutations are linked to higher white blood cell counts and specific outcomes in polycythemia vera, essential thrombocythemia, and myelofibrosis.

Area of Science:

  • Hematology
  • Oncology
  • Genetics

Background:

  • Myeloproliferative Neoplasms (MPN) are clonal hematopoietic stem cell disorders.
  • The JAK2V617F mutation is a key genetic driver in MPN.
  • JAK2V617F zygosity's impact on MPN phenotype requires further elucidation.

Purpose of the Study:

  • To investigate the frequency of JAK2V617F zygosity in MPN patients.
  • To determine the correlation between JAK2V617F zygosity and clinical outcomes.
  • To assess the utility of ARMS-PCR for zygosity determination.

Main Methods:

  • Cross-sectional study of 162 MPN patients (PV, ET, MF) with JAK2V617F mutation.
  • DNA extraction from peripheral blood samples.
  • JAK2V617F zygosity determined using Amplification Refractory Mutation System-Polymerase Chain Reaction (ARMS-PCR).

Main Results:

  • 131 patients (80.86%) were heterozygous, and 31 (19.14%) were homozygous for JAK2V617F.
  • Homozygous patients exhibited higher age and white blood cell (WBC) counts.
  • WBC counts were significantly higher in homozygous patients across PV, ET, and MF groups; ET homozygotes showed reduced hemoglobin and increased platelets.

Conclusions:

  • JAK2V617F zygosity is a valuable marker for MPN disease severity and prognosis.
  • ARMS-PCR is a simple, accessible method for determining JAK2V617F zygosity.
  • Routine inclusion of zygosity status in JAK2V617F mutation reports is recommended.
Keywords:
ARMS-PCRJAK2V617FMPNallele burdenzygosity

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