title: KIT(D816V+) systemic mastocytosis associated with KIT(D816V+) acute erythroid leukaemia: first case report with molecular evidence for same progenitor cell derivation.
abstract: 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.
authors.affiliation: Department of Pathology, University of New Mexico, Albuquerque, New Mexico, USA.
authors.forename: S A
authors.initials: SA
authors.lastname: McClintock-Treep
authors.forename: H-P
authors.initials: HP
authors.lastname: Horny
authors.forename: K
authors.initials: K
authors.lastname: Sotlar
authors.forename: M K
authors.initials: MK
authors.lastname: Foucar
authors.forename: K K
authors.initials: KK
authors.lastname: Reichard
mesh_terms: D017809:Fatal Outcome; D006801:Humans; D004915:Leukemia, Erythroblastic, Acute / Q000150:complications / Q000235:genetics* / Q000473:pathology; D034721:Mastocytosis, Systemic / Q000150:complications / Q000235:genetics* / Q000473:pathology; D008875:Middle Aged; D009154:Mutation; D014411:Neoplastic Stem Cells / Q000473:pathology; D011379:Prognosis; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
chemical_list: D019009:Proto-Oncogene Proteins c-kit