In up to 40% of systemic mastocytosis (SM) cases, an associated clonal hematological non-mast cell lineage disease such as AML is diagnosed before, simultaneously with, or after the diagnosis of SM. A 40-yr-old man was diagnosed with AML with t(8;21)(q22;q22). Mast cells were not noted at diagnosis, but appeared as immature forms at relapse. After allogeneic hematopoietic stem cell transplantation (HSCT), leukemic myeloblasts were not observed; however, neoplastic metachromatic blasts strikingly proliferated during the state of bone marrow aplasia, and finally, aleukemic mast cell leukemia developed. As the disease progressed, we observed serial morphologic changes from immature mast cells with myeloblasts to only metachromatic blasts and atypical mast cells as mast cell leukemia; FISH analysis showed that the neoplastic mast cells originated from the same clone as the leukemic myeloblasts of AML.
Adult ; Bone Marrow Cells/pathology ; Chromosomes, Human, Pair 21 ; Chromosomes, Human, Pair 8 ; *Hematopoietic Stem Cell Transplantation ; Humans ; In Situ Hybridization, Fluorescence ; Leukemia, Mast-Cell/diagnosis/etiology ; Leukemia, Myeloid, Acute/complications/*diagnosis/therapy ; Leukocytes, Mononuclear/pathology ; Male ; Mastocytosis, Systemic/*diagnosis/etiology ; Recurrence ; Translocation, Genetic ; Transplantation, Homologous