Abstract
We describe the case of a 69-year-old man with systemic mastocytosis and severe osteopetrosis who carries a somatic activating mutation in the c-kit proto-oncogene. The patient initially presented with urticaria pigmentosa, progressing to systemic mast cell disease with severe anemia due to bone marrow involvement, chronic diarrhea, and hepatosplenomegaly. Direct sequencing using amplimers from reverse transcriptase-polymerase chain reactions (RT-PCR) from skin mast cell-derived RNA revealed a point mutation in the c-kit proto-oncogene at position 2468, introducing a new recognition site for the restriction endonuclease HinfI. Treatment with interferon-alpha 2a, prednisone, and erythropoietin was initiated. Subsequently, clinical sysmptoms improved significantly and hemoglobin levels are now stable at 13 g/dl.
Similar content being viewed by others
Author information
Authors and Affiliations
Additional information
Received: February 26, 1998 / Accepted: June 2, 1998
Rights and permissions
About this article
Cite this article
Reinacher-Schick, A., Petrasch, S., Longley, B. et al. c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic mast cell disease. Ann Hematol 77, 131–134 (1998). https://doi.org/10.1007/s002770050428
Issue Date:
DOI: https://doi.org/10.1007/s002770050428