Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis - PubMed (original) (raw)
Case Reports
doi: 10.1038/sj.thj.6200348.
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- PMID: 15167915
- DOI: 10.1038/sj.thj.6200348
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Case Reports
Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis
Roberto Cairoli et al. Hematol J. 2004.
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Abstract
Mutations of the c-kit gene have been reported in myeloproliferative disorders. We describe here a case of Ph+ (b2a2) chronic myelogenous leukemia that, during the course of disease, showed an unusual bone marrow mast-cell infiltration. A mutational screening for the c-kit gene, performed on DNA routinely cryopreserved during the follow-up, evidenced the D816Y-activating mutation as an additional genetic abnormality. Treatment with imatinib mesylate resulted in a substantial decrease of the BCR-ABL/ABL ratio and in the absence of c-kit mutation. It is likely that the superimposed c-kit mutation, in this case, may account for the transient bone marrow mastocytosis.
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