Multilineage involvement and erythropoietin-"independent" erythroid progenitor cells in a patient with systemic mastocytosis.
We report on a patient with systemic mastocytosis with an activating point mutation of the c-kit gene. This mutation was identical to the c-kit mutation recently described by other groups. Additionally, we found that in this patient the mutation was also present in myeloid and erythroid lineages, indicating a multilineage involvement and suggesting a clonal origin of the disease similar to that described in other myeloproliferative disorders. The erythroid involvement was further demonstrated by the presence of erythropoietin-"independent" erythroid progenitor cells.
Afonja
O
O
Department of Medicine, Kaplan Comprehensive Cancer Center, New York University Medical Center, NY 10016, USA.
Amorosi
E
E
Ashman
L
L
Takeshita
K
K
D019070:Cell Lineage; D015672:Erythroid Precursor Cells / Q000502:physiology*; D004921:Erythropoietin / Q000502:physiology*; D006801:Humans; D008297:Male; D008415:Mastocytosis / Q000097:blood / Q000235:genetics*; D008875:Middle Aged; D009154:Mutation; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*
D004921:Erythropoietin; D019009:Proto-Oncogene Proteins c-kit