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Updated: Sep 25, 2026

Analyzing the Functions of Mast Cells In Vivo Using 'Mast Cell Knock-in' Mice
Published on: May 27, 2015
Flt-3 and c-kit mutation studies in a spectrum of chronic myeloid disorders including systemic mast cell disease
Animesh Pardanani1, Terra L Reeder, Teresa K Kimlinger
1Division of Hematology and Internal Medicine, Mayo Clinic, 200 First Street SW, Rochester, MN 55905, USA.
Abstract:
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.

