title: Novel R634W c-kit mutation identified in familial mastocytosis.
abstract: Familial mastocytosis is a well-documented but rare entity, with fewer than 100 cases reported in the literature. The etiology has most commonly been linked to activating c-kit mutations, with several mutations reported to date. We present a novel familial mastocytosis-associated c-kit mutation (R634W) in three siblings with urticaria pigmentosa. This mutation has been previously described in mucosal melanoma, chronic myelomonocytic leukemia, and acute myeloid leukemia. Because this is a rare mutation, it is unclear whether screening for other disease states associated with the mutation would be of benefit.
authors.affiliation: San Antonio Military Medical Center, Ft. Sam Houston, Texas.
authors.forename: Whitney L
authors.initials: WL
authors.lastname: Pollard
authors.forename: Thomas M
authors.initials: TM
authors.lastname: Beachkofsky
authors.forename: Todd T
authors.initials: TT
authors.lastname: Kobayashi
mesh_terms: D001707:Biopsy, Needle; D002648:Child; D002675:Child, Preschool; D005260:Female; D020022:Genetic Predisposition to Disease; D006801:Humans; D007150:Immunohistochemistry; D008297:Male; D034701:Mastocytosis, Cutaneous / Q000175:diagnosis / Q000235:genetics*; D008991:Monitoring, Physiologic; D009154:Mutation; D010375:Pedigree; D011379:Prognosis; D019009:Proto-Oncogene Proteins c-kit / Q000235:genetics*; D018570:Risk Assessment; D035781:Siblings; D014582:Urticaria Pigmentosa / Q000175:diagnosis*
chemical_list: D019009:Proto-Oncogene Proteins c-kit