Flt-3 and c-kit mutation studies in a spectrum of chronic myeloid disorders including systemic mast cell disease

Animesh Pardanani, Terra L. Reeder, Teresa K. Kimlinger, Jin Y. Baek, Chin Y. Li, Joseph H. Butterfield, Ayalew Tefferi

Research output: Contribution to journalArticle

36 Scopus citations


We screened 115 patients with chronic myeloid disorders (CMD) for known flt-3 and c-kit mutations in both the juxtamembrane (JM) and the activation loop (AL) domains. None of the patients displayed flt-3 (JM or AL) or c-kit JM mutations. However, the c-kit AL (D816V) mutation was detected in 5 of 16 patients with systemic mast cell disease (SMCD) but in none of the remaining 99 patients with other CMD. In SMCD, the presence of D816V mutation was significantly associated with advanced age, an aggressive clinical course, increased bone marrow mast cell content, and chronic myelomonocytic leukemia.

Original languageEnglish (US)
Pages (from-to)739-742
Number of pages4
JournalLeukemia Research
Issue number8
StatePublished - Aug 1 2003



  • Hematologic clonal malignancies
  • Leukemia
  • Receptor tyrosine kinase
  • Stem cells
  • c-kit mutation

ASJC Scopus subject areas

  • Hematology
  • Oncology
  • Cancer Research

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