2007 Fiscal Year Final Research Report Summary
Clinical and biological significance of granulocyte colony stimulating factor receptor gene abnormalities those found in severe congenital neutropenia
| Project/Area Number |
17591069
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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 |
Pediatrics
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| Research Institution | Yamagata University |
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Principal Investigator |
MITSUI Tetuo Yamagata University, Faculty of Medicine, Assistant Professor (30270846)
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| Co-Investigator(Kenkyū-buntansha) |
KAWAKAMI Takako Yamagata University, Faculty of Medicine, Assistant (90312743)
HAYASAKA Kiyosi Yamagata University, Faculty of Medicine, Professor (20142961)
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| Project Period (FY) |
2005 – 2007
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| Keywords | Severe congenital neutropenia / Granulocyte colony stimulating factor receptor / Truncation mutation / Shwachman-Diamond syndrome / SBDS |
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| Research Abstract |
Severe congenital neutropenia (SCN) is a hematopoietic disorder characterized by neutropenia in peripheral blood. Patients with SCN may evolve to have myelodysplastic syndrome or acute myelocytic leukemia. In approximately 20% of SCN cases, a truncation mutation is found in the cytoplasmic region of the granulocyte colonystimulating factor receptor (G-CSFR). We then generated mice carrying murine wildtype G-CSFR and its mutants equivalent to truncations at amino acids 718 and 731 in human G-CSFR, those were reported to be related to leukemic transformation of SCN. We administered G-CSF for 250 days to these mouse, but no leukemic transformation was found. From this result, other genetic events may be need to leukemic transformation.
We then analyzed genetic abnormalities of SBDS gene those reported as the cause of Shwachman-Diamond syndrome which shows also congenital neutropenia and have frequent evolution to MDS/leukemia. As a results, most patients are found to be compound heterozygotes of SBDS gene mutations. We found that clinical phenotype was various even among same gene mutations. Further analysis are required to define the role for leukemic transformation of these gene abnormalities.
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[Journal Article] A review of 331 rhabdomyosarcomacases in patients treated between 1991 and 2002 in Japan2007
Author(s)
Hosoi H, Teramukai S, Matsumoto Y, Tsuchida K, Iehara T, Hara J, Mitsui T, Kaneko M, Hatae Y, Hayashi Y, Mabuchi O, Adachi N, Morikawa Y, Nishimura S, Kumagai M, Takematsu H, Sawada T, Sugimoto
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Journal Title
Int J Clin Oncol 12
Pages: 137-145
Description
「研究成果報告書概要(欧文)」より
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[Journal Article] Genetic analysis of Shwachman-Diamond syndrome : phenotypic heterogeneity in patients carrying identical SBDS mutations2005
Author(s)
Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, Noro M, Endoh M, Hama A, Tono C, Ito E, Tsuchiya S, Igarashi Y, Abukawa D, Hayasaka K
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Journal Title
Tohoku J Exp Med. 206
Pages: 253-259
Description
「研究成果報告書概要(欧文)」より
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