| Project/Area Number |
18K16128
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| Research Category |
Grant-in-Aid for Early-Career Scientists
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| Allocation Type | Multi-year Fund |
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| Review Section |
Basic Section 54010:Hematology and medical oncology-related
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| Research Institution | Hokkaido University (2019-2022)
St. Luke's International University (2018) |
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Principal Investigator |
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| Project Period (FY) |
2018-04-01 – 2023-03-31
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| Project Status |
Completed (Fiscal Year 2022)
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| Budget Amount *help |
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2020: ¥1,430,000 (Direct Cost: ¥1,100,000、Indirect Cost: ¥330,000)
Fiscal Year 2019: ¥1,040,000 (Direct Cost: ¥800,000、Indirect Cost: ¥240,000)
Fiscal Year 2018: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 先天性素因 / 骨髄異形成症候群 / MDS / Cancer predisposition |
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| Outline of Final Research Achievements |
The purpose of this study is to identify the germline predisposition and to elucidate the clinical features of myelodysplastic syndrome (MDS) in children and young adults in Japan. Pearson syndrome is important as a differential disease of inherited bone marrow failure syndrome in infants. It is a rare disease, and it was known that cytopenia spontaneously recovers. Although GATA2 abnormalities are important as a germline predisposition to MDS, synonymous substitution mutations that were classified as no significance have been shown to affect RNA dysfunction and have pathogenic significance. As an international research, we cooperated analysis on GATA2 and SAMD9/9L abnormalities in pediatric MDS.
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| Academic Significance and Societal Importance of the Research Achievements |
一般集団、希少症候群それぞれの造血器腫瘍の発生機序を解明することは、それぞれの知見を用いて、相互に新たな解析、治療選択への応用が可能となる。本研究の成果により、Pearson症候群やGATA2異常症において、先天的な原因遺伝子異常を背景に、既知の造血器腫瘍特異的な遺伝子異常が加わることが確認された。今後、がん素因に配慮しつつ、それぞれの腫瘍に合わせた治療選択が可能となる。
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