Characteristics of the leukemia with KIT mutation
| Project/Area Number |
17590992
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Single-year Grants |
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| Section | 一般 |
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| Research Field |
Hematology
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| Research Institution | Mie University |
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Principal Investigator |
NISHII Kazuhiro Mie University, University Hospital, Hematology and Oncology, Associate professor, 医学部附属病院, 助手 (50332713)
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| Project Period (FY) |
2005 – 2006
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| Project Status |
Completed (Fiscal Year 2006)
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| Budget Amount *help |
¥3,300,000 (Direct Cost: ¥3,300,000)
Fiscal Year 2006: ¥1,300,000 (Direct Cost: ¥1,300,000)
Fiscal Year 2005: ¥2,000,000 (Direct Cost: ¥2,000,000)
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| Keywords | KIT / mutation / tyrosine kinase / acute myeloid leukemia / t(8;21) / inv(16) / 急性骨髄性白血病 / tyrosine kinase / 遺伝子異常 / 骨髄異形性症候群 / point mutation / 予後因子 / c-kit / t(8;21) AML |
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| Research Abstract |
KIT is a member of the type III receptor tyrosine kinase family and plays a crucial role in normal hematopoiesis and acute myeloid leukemia (AML). Active mutations of the KIT gene have been described in patients with AML and mastocytic leukemia, reported mutations were commonly found three area which be grouped into three region in the KIT gene; one from the extracellular membrane domain (EM) at exon 8, and two from the intracellular, exon 11 at the juxtamembrane (JM) domain and exon 17 found at the tyrosine kinase (TK) domain.
In this study, we investigated the KIT mutation in AML and MDS, and then the characteristics of the leukemic cells with KIT mutation.
RESULTS
1) Active mutations of KIT gene were found in 5% of AML. Moreover, all of the leukemic cells with KIT mutation had the abnormal Karyotype of t(8;21) or inv(16). These results strongly suggested that active mutation of KIT is closely associated with core binding factor leukemia (CBF leukemia).
2) Mutations in exon 8 was found only in inv(16)AML but mutation of exon 17 was detected only in t(8;21)AML. This results suggested that position of mutation might be associated with the Karyotype of leukemic cells.
3) Active mutation of KIT gene was found in17% of t(8;21)AML. When compared with t(8;21)AML without KIT mutation, t(8;21)AML with KIT mutation were significantly poor prognosis.
4) Tyrosine kinase inhibitor (Imatinib) did not induced apoptosis in the leukemic cells with KIT mutations.
These findings suggested that AML with KIT mutation may be the subtype of CBF leukemia.
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Report
(3 results)
Research Products
(24 results)
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[Journal Article] Molecular analysis of PDGFRα/β genes in core binding factor leukemia with eosinophilia.2006
Author(s)
Monma F, Nishii K, Lorenzo F 5th, Usui E, Ueda Y, Katayama N, Watanabe Y, Kawakami k, Oka K, Mitani H, Sekine T, Tamaki S, Mizutani M, Yagasaki F, Doki N, Miyawaki S, Shiku H
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Journal Title
Eur J Haematol 76
Pages: 18-22
Description
「研究成果報告書概要(欧文)」より
Related Report
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