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Molecular Analyses

  1. JAK2V617F
  2. JAK2 Exon 12
  3. MPL/TPO Receptor
  4. CALR
  5. Other MPN mutations
  6. EPO Receptor
  7. O2-sensing pathway genes
  8. THPO/Thrombopoietin

Other genes mutated in MPN

Recent studies have found several genes mutated in MPNs, with low to medium frequency. These mutated genes are not specific for MPNs, and their importance in the diagnosis and prognostic evaluation of MPNs has yet to be determined. However mutations in these genes found with significant frequency in MPNs can be sequenced to affirm the clonality of a disorder.
The most common mutations are presented below, followed by a list of laboratories that offer screening for these mutations.

  • TET2

    TET2 has been found mutated in various myeloid disorders with frequencies varying from 5 to 20% depending on the MPN subtype.
  • ASXL1

    This gene plays a role in the epigenetic regulation. ASXL1
  • EZH2

    This gene plays a role in the epigenetic regulation. EZH2
  • CBL1

    CBL encodes for an ubiquitin ligase able to target cytokine receptors for proteasome degradation. Its mutation has been described in MPN and mixed MDS-MPN. CBL1
  • IDH1/2

    IDH1/2
  • DNMT3A

    DNMT3A
  • LNK

    LNK
  • TP53

    TP53
  • Spliceosome

    Spliceosome

Click here to get a table of the labs involved in these genes mutated in MPN (details about the labs in the second table).