A novel K5091 mutation of KIT identified in familial mastocytosis -: in vitro and in vivo responsiveness to imatinib therapy

被引：117

作者：

Zhang, LY

Smith, ML

Schultheis, B

Fitzgibbon, J

Lister, TA

Melo, JV

Cross, NCP

Cavenagh, JD ^{[1
]}

机构：

[1] St Bartholomews Hosp, Dept Haematol, London EC1A 7BE, England

[2] Wessex Reg Genet Lab, Salisbury, Wilts, England

[3] St Bartholomews Hosp, Canc Res UK Med Oncol Unit, London EC1A 7BE, England

[4] Univ London Imperial Coll Sci Technol & Med, Dept Haematol, London, England

[5] Hammersmith Hosp, London, England

来源：

LEUKEMIA RESEARCH | 2006年 / 30卷 / 04期

关键词：

KIT; familial mastocytosis; imatinib; K509I;

D O I：

10.1016/j.leukres.2005.08.015

中图分类号：

R73 [肿瘤学];

学科分类号：

100214 ;

摘要：

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, imatimb 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 imatimb 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. (C) 2005 Elsevier Ltd. All rights reserved.

引用

页码：373 / 378

页数：6

共 26 条

[1] A novel form of mastocytosis associated with a transmembrane c-kit mutation and response to imatinib [J].