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

Vinod A. Pullarkat, Sheeja T. Pullarkat, David Calverley, Russell K. Brynes

Research output: Contribution to journalArticle

45 Scopus citations


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. (C) 2000 Wiley-Liss, Inc.

Original languageEnglish (US)
Pages (from-to)307-309
Number of pages3
JournalAmerican Journal of Hematology
Issue number4
Publication statusPublished - 2000
Externally publishedYes



  • Acute myeloid leukemia
  • c-kit
  • Mast cell disease
  • Mutation

ASJC Scopus subject areas

  • Hematology

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