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KITD816V+ Systemic Mastocytosis Associated with KITD816V+ Acute Erythroid Leukemia (SM-AHNMD): first case report with molecular evidence for same stem cell derivation
  1. Sara A McClintock-Treep
  1. University of New Mexico, United States
    1. Hans-Peter Horny
    1. Institut für Pathologie, Klinikum Ansbach, Germany
      1. Karl Sotlar
      1. Institute of Pathology, University of Munich, Germany
        1. Kathryn Foucar
        1. University of New Mexico, United States
          1. Kaaren K Reichard (kreichard{at}
          1. University of New Mexico, United States


            We report a case of systemic mastocytosis associated with a clonal hematological non-mast-cell lineage disease (SM-AHNMD) where the associated disease is acute erythroid leukemia (erythroid/myeloid type). Interestingly, molecular studies showed the KITD816V+ mutation not only in the mast cells, but also, in the myeloid blast population and the leukemic erythroid cells. As is the case with most erythroid leukemias, the patient had a very aggressive clinical course and died shortly after diagnosis. To the best of our knowledge, this is the first reported case of systemic mastocytosis with erythroid leukemia where the KITD816V+ mutation was detected in all three cell types. Our molecular findings provide evidence for derivation of these seemingly morphologically distinct lesions from the same clonal precursor cell. From a practice standpoint, this case illustrates the importance of definitively diagnosing the associated non mast-cell-lineage disease due to its prognostic implications.

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