RT Journal Article
SR Electronic
T1 KIT<sup>D816V+</sup> systemic mastocytosis associated with KIT<sup>D816V+</sup> acute erythroid leukaemia: first case report with molecular evidence for same progenitor cell derivation
JF Journal of Clinical Pathology
JO J Clin Pathol
FD BMJ Publishing Group Ltd and Association of Clinical Pathologists
SP 1147
OP 1149
DO 10.1136/jcp.2009.067876
VO 62
IS 12
A1 McClintock-Treep, S A
A1 Horny, H-P
A1 Sotlar, K
A1 Foucar, M K
A1 Reichard, K K
YR 2009
UL http://jcp.bmj.com/content/62/12/1147.abstract
AB 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.