KITD816V+ systemic mastocytosis associated with KIT D816V+ acute erythroid leukaemia: First case report with molecular evidence for same progenitor cell derivation

ArticleinJournal of clinical pathology 62(12):1147-9 · October 2009with24 Reads
Impact Factor: 2.92 · DOI: 10.1136/jcp.2009.067876 · Source: PubMed


    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 KIT(D816V+) 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 KIT(D816V+) 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.