| Project/Area Number |
26860794
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| Research Category |
Grant-in-Aid for Young Scientists (B)
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| Allocation Type | Multi-year Fund |
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| Research Field |
Pediatrics
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| Research Institution | Nagoya University |
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Principal Investigator |
Okuno Yusuke 名古屋大学, 医学部附属病院, 特任講師 (00725533)
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| Research Collaborator |
MURAMATSU Hideki 名古屋大学, 医学部附属病院・小児科, 助教
KOJIMA Seiji 名古屋大学, 大学院医学系研究科, 教授
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| Project Period (FY) |
2014-04-01 – 2016-03-31
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| Project Status |
Completed (Fiscal Year 2015)
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| Budget Amount *help |
¥3,380,000 (Direct Cost: ¥2,600,000、Indirect Cost: ¥780,000)
Fiscal Year 2015: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
Fiscal Year 2014: ¥1,690,000 (Direct Cost: ¥1,300,000、Indirect Cost: ¥390,000)
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| Keywords | 若年性骨髄単球性白血病 / 次世代シーケンサー / 全エクソーム解析 / 急性転化 / 遺伝子 |
|---|
| Outline of Final Research Achievements |
Juvenile myelomonocytic leukemia (JMML) is an intractable hematological disease of childhodd. Despite the treatment with hematopoietic stem cell transplantation, the prognosis is poor. Among the cause of death is a blast criris, of which molecular pathogenesis still remains to be elucidated. In this study, we performed a comprehensive genetic analysis including whole-exome sequencing in three patients with JMML. In a patient whose JMML progressed to a sarcoma, we identified a uniparental disomy event in NRAS, resulting in homozygous activating mutataion. In another patient who developed a mature B-cell leukemia, we identified an acquisition of pathogenic IGH-MYC gene fusion. In the other patient who developed B-cell precursor acute lymphoblastic leukemia, however, we did not identify any acquired genetic lesions.
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