Am J Hematol  2000 Dec;65(4):307-9 

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

Pullarkat VA, Pullarkat ST, Calverley DC, Brynes RK.

Division of Hematology, University of Southern California School of Medicine,
Los Angeles, California 90033-0804, USA. vinodpullarkat@pol.net

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. Copyright 2000 Wiley-Liss, Inc.

PMID: 11074560 [PubMed - indexed for MEDLINE]