Chronic mast cell leukemia (MCL) with KIT S476I: a rare entity defined by leukemic expansion of mature mast cells and absence of organ damage

Ann Hematol. 2015 Feb;94(2):223-31. doi: 10.1007/s00277-014-2207-9. Epub 2014 Sep 11.


Mast cell leukemia (MCL) is a rare, life-threatening malignancy defined by a substantial increase in neoplastic mast cells (MCs) in bone marrow (BM) smears, drug-resistance, and a poor prognosis. In most patients, the survival time is less than 1 year. However, exceptional cases may present with a less malignant course. We report on a 49-year-old female patient with MCL diagnosed in 2013. In February 2013, first symptoms, including flushing, headache, and diarrhea, were recorded. In addition, mild anemia was detected. The disease was characterized by a massive increase in well-granulated, mature, and often spindle-shaped MCs (80 %) in BM smears. The serum tryptase level amounted to 332 ng/mL. Like in most other MCL patients, no skin lesions were detected. However, unlike in other patients, tryptase levels remained stable, and no other signs or symptoms of MCL-induced organ damage were found. Sequencing studies revealed an isolated S476I point mutation in KIT but no mutation in codon 816. The patient received histamine receptor blockers but refused cytoreductive therapy. After 9 months, still no progression or organ damage was detected. However, progression with transformation to acute MCL occurred after 12 months. We propose that the chronic type of MCL with stable conditions, absence of organ damage, and a mature MC morphology is recognized as a distinct entity that should be distinguished from the acute variant of MCL.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Bone Marrow Examination
  • Cell Proliferation / drug effects
  • Chronic Disease
  • Female
  • Humans
  • Leukemia, Mast-Cell / genetics*
  • Leukemia, Mast-Cell / pathology
  • Mast Cells / drug effects
  • Mast Cells / metabolism*
  • Mast Cells / pathology
  • Middle Aged
  • Mutation, Missense*
  • Protein Kinase Inhibitors / pharmacology
  • Proto-Oncogene Proteins c-kit / genetics*


  • Protein Kinase Inhibitors
  • Proto-Oncogene Proteins c-kit