Chronic myelogenous leukemia with acquired c-kit activating mutation and transient bone marrow mastocytosis

Roberto Cairoli, Giovanni Grillo, Alessandro Beghini, Giorgia Cornacchini, Lidia Larizza, Enrica Morra

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)273-275
Number of pages3
JournalHematology Journal
Volume5
Issue number3
DOIs
Publication statusPublished - 2004

Keywords

  • c-kit
  • CML
  • Mastocytosis

ASJC Scopus subject areas

  • Hematology

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