2011 Fiscal Year Final Research Report
Development of a new classification depend on epigenetic information in pediatric acquired bone marrow failure syndrome
| Project/Area Number |
22659193
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| Research Category |
Grant-in-Aid for Challenging Exploratory Research
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| Allocation Type | Single-year Grants |
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| Research Field |
Pediatrics
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| Research Institution | Nagoya University |
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Principal Investigator |
KOJIMA Seiji 名古屋大学, 大学院・医学系研究科, 教授 (20313992)
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| Co-Investigator(Kenkyū-buntansha) |
TAKAHASHI Yoshiyuki 名古屋大学, 大学院・医学系研究科, 準教授 (40432273)
MURAMATSU Hideki 名古屋大学, 医学部附属病院, 助教 (00572570)
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| Project Period (FY) |
2010 – 2011
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| Keywords | 内科系臨床医学・小児科学 / 再生不良性貧血 / エピジェネティクス / 骨髄異形成症候群 / パイロシークエンス |
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| Research Abstract |
The differential diagnosis between aplastic anemia(AA) and hypoplastic myelodysplastic syndrome(MDS), especially, refractory cytopenia of childhood(RCC) is still difficult. Six of 9 RCC specimens showed the TP53 gene mutation in TP53 positive stained cells cut by lazer microdissection system, however, there is no TP53 mutation in AA specimens. Furthermore, 2 of 5 RCC specimens showed the highly methylated status in the promotor region of p16 gene, but not in AA specimens. Higher expression of Evi-1, GATA-2 and AML1/RUNX1 were found than those at AA/MDS phase. We also found AML1/RUNX1 and N-RAS mutations occurred in this process.
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