Cytogenetics And Molecular Biology

The most important cytokine in mast cell development from CD34+ progenitors is stem cell factor, or KIT ligand. In a high proportion of cases of systemic mastocytosis, a mutation Asp-816-Val is often detectable in c-kit, which is the receptor for stem cell factor and is a valuable diagnostic marker.71-73 This mutation is not always confined to mast cells but is sometimes demonstrable in other hematopoietic cells, including CD34+ cells. Cytogenetic abnormalities are variable and include +8, +9, del (5)(q), del (7)(q), monosomy 7, and del(20)(q).74

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