Mast cell disease associated with acute myeloid leukemia: detection of a new c-kit mutation Asp816His

Am J Hematol. 2000 Dec;65(4):307-9. doi: 10.1002/1096-8652(200012)65:4<307::aid-ajh10>;2-f.


Mast cell disease (MCD), a proliferation of mast cells (MC), is occasionally associated with hematologic malignancies. Neoplastic MC have activating c-kit mutations. c-kit is a receptor tyrosine kinase required for the development, proliferation, and survival of MC. Interaction of c-kit with its ligand stem cell factor induces dimerization, receptor phosphorylation, and signal transduction. The most common c-kit mutation detected in neoplastic MCD is Asp816Val, which results in ligand-independent autophosphorylation of the receptor leading to MC proliferation. We describe the rare occurrence of MCD associated with acute myeloid leukemia, report a novel c-kit mutation Asp816 His, and discuss the pathogenesis of MCD associated with hematologic malignancies.

Publication types

  • Case Reports

MeSH terms

  • Acute Disease
  • Adult
  • Humans
  • Leukemia, Myeloid / complications
  • Leukemia, Myeloid / genetics*
  • Leukemia, Myeloid / pathology
  • Male
  • Mastocytosis / etiology
  • Mastocytosis / genetics*
  • Mastocytosis / pathology
  • Mutation
  • Proto-Oncogene Proteins c-kit / genetics*


  • Proto-Oncogene Proteins c-kit