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

✍ Scribed by Vinod A. Pullarkat; Sheeja T. Pullarkat; David C. Calverley; Russell K. Brynes

Publisher
John Wiley and Sons
Year
2000
Tongue
English
Weight
68 KB
Volume
65
Category
Article
ISSN
0361-8609

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✦ Synopsis

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.

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Systemic mastocytosis with associated cl
Systemic mastocytosis with associated clonal hematological non-mast-cell lineage disease: Analysis of clinicopathologic features and activating c-kit mutations
✍ Vinod A. Pullarkat; Carlos Bueso-Ramos; Raymond Lai; Steven Kroft; Carla S. Wils 📂 Article 📅 2003 🏛 John Wiley and Sons 🌐 English ⚖ 228 KB

## Abstract The majority of patients with systemic mastocytosis with associated clonal, hematological non‐mast cell lineage disease (SM‐AHNMD) have a myeloid stem cell malignancy including myelodysplastic syndromes (MDS), myelodysplastic/myeloproliferative disorders, acute myeloid leukemia (AML), o