Transformed essential thrombocytosis with a JAK2 V617F mutation relapsing as JAK2 mutation-negative leukaemia after allogeneic stem cell transplantation.

摘要

The finding of a single mutation in the JH2 auto-inhibitory domain of the JAK2 kinase (V617F) in a wide variety of myeloproliferative diseases (MPD) has revolutionized their definition.1 The mutation is present in erythroblasts, granulocytes, platelets and multipotent haematopoietic progenitors.2 The JAK2 mutation has a potential role for the monitoring of residual disease after haematopoietic stem cell transplantation (HSCT) for MPD.