title: c-kit mutation and osteopetrosis-like osteopathy in a patient with systemic mast cell disease.
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 symptoms improved significantly and hemoglobin levels are now stable at 13 g/dl.
authors.affiliation: Department of Medicine, Knappschaftskrankenhaus, Ruhr University, Bochum, Germany. Anke.C.Reinacher@ruhr-uni-bochum.de
authors.forename: A
authors.initials: A
authors.lastname: Reinacher-Schick
authors.forename: S
authors.initials: S
authors.lastname: Petrasch
authors.forename: B J
authors.initials: BJ
authors.lastname: Longley
authors.forename: C
authors.initials: C
authors.lastname: Teschendorf
authors.forename: U
authors.initials: U
authors.lastname: Graeven
authors.forename: W
authors.initials: W
authors.lastname: Schmiegel
mesh_terms: D000368:Aged; D006801:Humans; D008297:Male; D008415:Mastocytosis / Q000000981:diagnostic imaging / Q000235:genetics*; D009154:Mutation; D010022:Osteopetrosis / Q000000981:diagnostic imaging / Q000235:genetics*; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D014057:Tomography, X-Ray Computed
chemical_list: C000715470:MAS1 protein, human; D000090063:Proto-Oncogene Mas; D019009:Proto-Oncogene Proteins c-kit