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Novel R634W c‐kit Mutation Identified in Familial Mastocytosis
Author(s) -
Pollard Whitney L.,
Beachkofsky Thomas M.,
Kobayashi Todd T.
Publication year - 2014
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.12381
Subject(s) - medicine , mutation , systemic mastocytosis , urticaria pigmentosa , etiology , leukemia , disease , cutaneous mastocytosis , myeloid leukemia , immunology , dermatology , genetics , pathology , biology , gene
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.