A novel K509I mutation of KIT identified in familial mastocytosis—in vitro and in vivo responsiveness to imatinib therapy
A novel K509I mutation of KIT identified in familial mastocytosis—in vitro and in vivo responsiveness to imatinib therapy
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.
therapy, laboratories, in-vitro, family, analysis, patients, in vitro, report, genetics, mutation
373-378
Zhang, Ling Yan
9128e0ff-c6bc-46fc-9bd9-0688781c3b04
Smith, Matthew L.
ab677a95-93ec-4f36-81f9-e1ea7e6c2127
Schultheis, Beate
81cee7d3-02b3-4a0d-9743-782e3654a3f4
Fitzgibbon, Jude
6afae538-ec1c-41a0-af2a-21b98dfbb356
Lister, T. Andrew
6b42a014-ee50-4017-bbb8-16aa71b74018
Melo, Junia V.
0e816e85-ca9f-4a79-9c6f-91ce2279694c
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Cavenagh, Jamie D.
426e18d2-fd8d-4e29-9431-675f2c6e37e4
2006
Zhang, Ling Yan
9128e0ff-c6bc-46fc-9bd9-0688781c3b04
Smith, Matthew L.
ab677a95-93ec-4f36-81f9-e1ea7e6c2127
Schultheis, Beate
81cee7d3-02b3-4a0d-9743-782e3654a3f4
Fitzgibbon, Jude
6afae538-ec1c-41a0-af2a-21b98dfbb356
Lister, T. Andrew
6b42a014-ee50-4017-bbb8-16aa71b74018
Melo, Junia V.
0e816e85-ca9f-4a79-9c6f-91ce2279694c
Cross, Nicholas C.P.
f87650da-b908-4a34-b31b-d62c5f186fe4
Cavenagh, Jamie D.
426e18d2-fd8d-4e29-9431-675f2c6e37e4
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), .
(doi:10.1016/j.leukres.2005.08.015).
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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Published date: 2006
Keywords:
therapy, laboratories, in-vitro, family, analysis, patients, in vitro, report, genetics, mutation
Organisations:
Human Genetics
Identifiers
Local EPrints ID: 25060
URI: http://eprints.soton.ac.uk/id/eprint/25060
ISSN: 0145-2126
PURE UUID: e3ce7c41-46e8-45cf-bc72-45c44e8530a9
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Date deposited: 31 Mar 2006
Last modified: 16 Mar 2024 03:23
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Contributors
Author:
Ling Yan Zhang
Author:
Matthew L. Smith
Author:
Beate Schultheis
Author:
Jude Fitzgibbon
Author:
T. Andrew Lister
Author:
Junia V. Melo
Author:
Jamie D. Cavenagh
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