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KITD816V+ systemic mastocytosis associated with KITD816V+ acute erythroid leukaemia: first case report with molecular evidence for same progenitor cell derivation
  1. S A McClintock-Treep1,
  2. H-P Horny2,
  3. K Sotlar3,
  4. M K Foucar1,
  5. K K Reichard1
  1. 1
    Department of Pathology, University of New Mexico, Albuquerque, New Mexico, USA
  2. 2
    Institut für Pathologie, Klinikum Ansbach, Escherichstrasse 6DE-91522 Ansbach, Germany
  3. 3
    Institute of Pathology, University of Munich, Munich, Germany
  1. Correspondence to Dr K K Reichard, Tricore Reference Laboratories, 1001 Woodward Place NE, Albuquerque, New Mexico, USA; kreichard{at}


A case of systemic mastocytosis associated with a clonal haematological non-mast cell lineage disease (SM-AHNMD), where the associated disease is acute erythroid leukaemia (erythroid/myeloid type), is reported. Interestingly, molecular studies showed the KITD816V+ mutation not only in the mast cells, but also in the myeloid blast population and the leukaemic erythroid cells. As is the case with most erythroid leukaemias, the patient had a very aggressive clinical course and died shortly after diagnosis. It is believed that this is the first reported case of systemic mastocytosis with erythroid leukaemia where the KITD816V+ mutation was detected in all three cell types. 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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  • Competing interests None.

  • Patient consent Patient data have been anonymised as patient is deceased and no relatives are listed.

  • Provenance and peer review Not commissioned; externally peer reviewed.