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

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 lig...

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Bibliographic Details
Published in:American journal of hematology 2000-12, Vol.65 (4), p.307-309
Main Authors: Pullarkat, Vinod A., Pullarkat, Sheeja T., Calverley, David C., Brynes, Russell K.
Format: Article
Language:English
Subjects:
Acute Disease
acute myeloid leukemia
Adult
Biological and medical sciences
c‐kit
mutation
Hematologic and hematopoietic diseases
Humans
Leukemia, Myeloid - complications
Leukemia, Myeloid - genetics
Leukemia, Myeloid - pathology
Leukemias. Malignant lymphomas. Malignant reticulosis. Myelofibrosis
Male
mast cell disease
Mastocytosis - etiology
Mastocytosis - genetics
Mastocytosis - pathology
Medical sciences
Mutation
Proto-Oncogene Proteins c-kit - genetics
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Description
Summary: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. Am. J. Hematol. 65:307–309, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:0361-8609
1096-8652
DOI:10.1002/1096-8652(200012)65:4<307::AID-AJH10>3.0.CO;2-F