A new MALDI-TOF-based assay for monitoring JAK2 V617F mutation level in patients undergoing allogeneic stem cell transplantation (allo SCT) for classic myeloproliferative disorders (MPD)

Leuk Res. 2008 Mar;32(3):421-7. doi: 10.1016/j.leukres.2007.07.003. Epub 2007 Aug 14.


JAK2 V617F mutation is found in a high proportion of MPD patients. We developed a quantitative assay for the detection of the JAK2 mutation and demonstrated its clinical utility in MPD patients who underwent SCT. Sixty percent of the patients were JAK2 V617F positive prior to the SCT (mean mutation levels 74%, range 16-98%). After the procedure, the mutation levels progressively decreased and were in correlation with the donor-recipient chimerism status (r=0.97, p<0.001). At a median follow up of 16 months (range 2-58), 9/15 patients are alive and in CR. The levels of the JAK2 V617F mutation reached 0% in all surviving patients.

MeSH terms

  • Adult
  • Aged
  • DNA Mutational Analysis / methods*
  • Female
  • Humans
  • Janus Kinase 2 / genetics*
  • Male
  • Middle Aged
  • Mutation
  • Myeloproliferative Disorders / genetics*
  • Myeloproliferative Disorders / therapy
  • Polymerase Chain Reaction
  • Sensitivity and Specificity
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
  • Stem Cell Transplantation*


  • Janus Kinase 2