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

Abstract:

: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.

journal_name

Am J Hematol

authors

Pullarkat VA,Pullarkat ST,Calverley DC,Brynes RK

doi

10.1002/1096-8652(200012)65:4<307::aid-ajh10>3.0.c

keywords:

subject

Has Abstract

pub_date

2000-12-01 00:00:00

pages

307-9

issue

4

eissn

0361-8609

issn

1096-8652

pii

10.1002/1096-8652(200012)65:4<307::AID-AJH10>3.0.C

journal_volume

65

pub_type

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