Article
A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy.
Leukemia research - 1 Apr 2006
Zhang Ling Yan, Smith Matthew L, Schultheis Beate, Fitzgibbon Jude, Lister T Andrew, Melo Junia V, Cross Nicholas C P, Cavenagh Jamie D
Abstract excerpt
KIT mutation has been implicated in sporadic mastocytosis, yet clusters in only a few sites in the molecule. For those malignancies associated with KIT mutation or over-expression, imatinib offers a specific therapeutic option, yet it has no effect on D816V mutation commonly seen in sporadic mastocytosis. The majority of cases of familial mastocytosis seem to lack KIT mutation. We report a kindred with...
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