Treatment of PCM1-JAK2 fusion tyrosine kinase gene-related acute lymphoblastic leukemia with stem cell transplantation

Publication Title

Future Medicine

Authors

Henry G Kaplan, Swedish Cancer InstituteFollow
Carlo Bifulco, Earle A. Chiles Research Institute, Robert W. Franz Cancer Research Center, Providence Portland Medical Center, Portland, ORFollow
Ruyun Jin, Center for Cardiovascular Analytics, Research, and Data Science; Providence St Joseph Heart Institute, Portland, ORFollow
James M Scanlan, Swedish Center for Research and Innovation, Swedish Medical Center, Seattle, WAFollow
David Colvin, Department of Pediatric Critical Care, Swedish Medical Center, Seattle, WA.Follow

Document Type

Article

Publication Date

4-29-2021

Keywords

washington; seattle; swedish; oregon; portland; chiles

Abstract

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

Cancer

Specialty/Research Institute

Oncology