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Treatment of PCM1-JAK2 fusion tyrosine kinase gene-related acute lymphoblastic leukemia with stem cell transplantation
Future Medicine
  • Henry G Kaplan, Swedish Cancer Institute
  • Carlo Bifulco, Earle A. Chiles Research Institute, Robert W. Franz Cancer Research Center, Providence Portland Medical Center, Portland, OR
  • Ruyun Jin, Center for Cardiovascular Analytics, Research, and Data Science; Providence St Joseph Heart Institute, Portland, OR
  • James M Scanlan, Swedish Center for Research and Innovation, Swedish Medical Center, Seattle, WA
  • David Colvin, Department of Pediatric Critical Care, Swedish Medical Center, Seattle, WA.
Document Type
Publication Date
  • washington,
  • seattle,
  • swedish,
  • oregon,
  • portland,
  • chiles

PCM1-JAK2 fusion mutations are rare variants that activate a tyrosine kinase leading to a variety of neoplasms that can involve any hematologic cell line. They most often present as myelodysplasia (MPD) and can demonstrate prominent eosinophilia and/or erythrodysplasia. Transformation to acute leukemia is often seen, as is de novo leukemia. Lymphomas have also been reported. The diagnosis can often be made with routine cytogenetic analysis but specific probes and detailed next generation sequencing may be necessary. JAK2 inhibitors are active in MPD as is stem cell transplantation. Transplantation has occasionally been successful in leukemic phase as well. The current case highlights both the difficulties in diagnosis as well as the second successful treatment of MPD, transformed into acute lymphoblastic leukemia.

Clinical Institute
Citation Information
Henry G Kaplan, Carlo Bifulco, Ruyun Jin, James M Scanlan, et al.. "Treatment of PCM1-JAK2 fusion tyrosine kinase gene-related acute lymphoblastic leukemia with stem cell transplantation" Future Medicine (2021)
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