2016 Fiscal Year Final Research Report
Next generation sequencing analysis of transient abnormal myelopoiesis and acute megakaryoblastic leukemia in Down syndrome
| Project/Area Number |
26461598
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| Research Category |
Grant-in-Aid for Scientific Research (C)
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| Allocation Type | Multi-year Fund |
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| Section | 一般 |
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| Research Field |
Pediatrics
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| Research Institution | Gunma Institute of Public Health and Environmental Sciences |
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Principal Investigator |
PARK Myoung-ja 群馬県衛生環境研究所, 研究企画係, 研究員 (50450375)
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| Project Period (FY) |
2014-04-01 – 2017-03-31
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| Keywords | 遺伝子 / ゲノム / マイクロアレイ / 癌 / ダウン症候群 / 一過性骨髄異常増殖症 / 急性巨核芽球性白血病 |
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| Outline of Final Research Achievements |
Cytokine analyses of 27 serum cytokines in 126 patients with transient abnormal myelopoiesis (TAM) in Down syndrome (DS), revealed high value of IL-1β, IL-2, and IL-17, but specific cytokine for TAM was not found. Eight patients having GATA1 mutation were found in 250 patients with acute myeloid leukemia (AML) and association of the 8 patients with clinical features was examined.
Cohesin complex, EZH2, and JAK2, which were frequently found by whole-exome sequencing in DS-acute megakaryoblastic leukemia (AMKL) were not found in any patients with non-DS AMKL. No CBFA2T3-GLIS2 or OTT-MAL chimeric RNAs were found in TAM and DS-AMKL, suggesting that DS-AMKL was biologically different disease entity from non-DS-AMKL.
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| Free Research Field |
小児血液腫瘍学
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