Screening and monitoring of MPL W515L mutation with real-time PCR in patients with myelofibrosis undergoing allogeneic-SCT

Bone Marrow Transplant. 2010 Sep;45(9):1404-7. doi: 10.1038/bmt.2009.367. Epub 2010 Jan 11.

Abstract

Monitoring of minimal residual disease (MRD) after allogeneic (allo)-SCT for myelofibrosis (MF) allows recognizing the depth of remission and thus guides application of appropriate therapeutic interventions. MPL W515L/K mutations, which are detected in 5-10% of JAK2V617F-negative patients, may be useful for this purpose. Using a highly sensitive quantitative PCR method, we tested 90 patients with MF who underwent allo-SCT for the presence of MPL W515L/K mutations. Two patients with primary MF were found to harbor MPLW515L while no patient was positive for MPLW515K mutation. Both patients were JAK2V617F negative and cleared the mutation rapidly after allo-SCT and remained negative for a median follow-up of 19 months. The results of molecular monitoring correlated well with other remission parameters such as normalization of peripheral blood counts and morphology and complete donor chimerism. We conclude that MPLW515L can be cleared after allo-SCT and hence may be used as an MRD marker in a proportion of JAK2V617F-negative MF patients.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Aged
  • Female
  • Follow-Up Studies
  • Genetic Markers / genetics
  • Genetic Testing / methods*
  • Genetic Testing / standards
  • Hematopoietic Stem Cell Transplantation*
  • Humans
  • Janus Kinase 2 / genetics
  • Neoplasm, Residual / genetics
  • Neoplasm, Residual / therapy
  • Primary Myelofibrosis / genetics*
  • Primary Myelofibrosis / therapy*
  • Receptors, Thrombopoietin / genetics*
  • Reproducibility of Results
  • Retrospective Studies
  • Reverse Transcriptase Polymerase Chain Reaction
  • Transplantation, Homologous

Substances

  • Genetic Markers
  • Receptors, Thrombopoietin
  • MPL protein, human
  • JAK2 protein, human
  • Janus Kinase 2