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. and Cavenagh, Jamie D. (2006) A novel K509I mutation of KIT identified in familial mastocytosis-in vitro and in vivo responsiveness to imatinib therapy. Leukemia Research, 30, (4), 373-378. (doi:10.1016/j.leukres.2005.08.015).

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Description/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.

Item Type: Article
ISSNs: 0145-2126 (print)
Related URLs:
Keywords: therapy, laboratories, in-vitro, family,analysis, patients, in vitro, report, genetics, mutation
Subjects: R Medicine > RD Surgery
R Medicine
R Medicine > RM Therapeutics. Pharmacology
Divisions: University Structure - Pre August 2011 > School of Medicine > Developmental Origins of Health and Disease
University Structure - Pre August 2011 > School of Medicine > Infection, Inflammation and Repair
University Structure - Pre August 2011 > School of Medicine
ePrint ID: 60462
Date Deposited: 08 Sep 2008
Last Modified: 27 Mar 2014 18:42
URI: http://eprints.soton.ac.uk/id/eprint/60462

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