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A novel K509I mutation of KIT identified in familial mastocytosis‐in vitro and in vivo responsiveness to imatinib therapy

Zhang, Ling Yan, Smith, Matthew L., Schultheis, Beate, Fitzgibbon, Jude, Lister, T. Andrew, Melo, Junia V., Cross, Nicholas C.P., Cavenagh, Jamie D.·2006·Leukemia Research
DOI 10.1016/j.leukres.2005.08.015
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Abstract

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 mastocytosis in whom in vitro and in vivo sensitivity to imatinib was demonstrated. Mutation analysis of the KIT coding region in this family identified a novel A>T mutation at nucleotide 1547 [K509I] in exon 9 in both of the affected patients.

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Crossref · 10.1016/j.leukres.2005.08.015

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Research works printed but not linked: 25

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Metadata

Authors
Zhang, L. Y., Smith, M. L., Schultheis, B., Fitzgibbon, J., Lister, T. A., Melo, J. V., Cross, N. C. P., & Cavenagh, J. D.
Venue
Leukemia Research
Publisher
Elsevier BV
Published
2006-04
Volume
30
Issue
4
Pages
373-378
ISSN
0145-2126
DOI
10.1016/j.leukres.2005.08.015
Cited by
129
References
0
Language
en
Licence
www.elsevier.com/tdm/userlicense/1.0/ (tdm)

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