Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein α with 13 years difference at onset.
作者信息
Debeljak Maruša, Kitanovski Lidija, Pajič Tadej, Jazbec Janez
出版信息
Haematologica. 2013 Jul;98(7):e73-4. doi: 10.3324/haematol.2012.082578. Epub 2013 May 28.
Abstract
摘要
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Concordant acute myeloblastic leukemia in monozygotic twins with germline and shared somatic mutations in the gene for CCAAT-enhancer-binding protein α with 13 years difference at onset.同卵双胞胎中发生的一致性急性髓系白血病，其CCAAT增强子结合蛋白α基因存在胚系和共享体细胞突变，发病时间相差13年。
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C/EBPα dysregulation in AML and ALL.急性髓系白血病和急性淋巴细胞白血病中C/EBPα的失调
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Allogeneic stem cell transplant to eliminate germline mutations in the gene for CCAAT-enhancer-binding protein α from hematopoietic cells in a family with AML.
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3
The favorable impact of CEBPA mutations in patients with acute myeloid leukemia is only observed in the absence of associated cytogenetic abnormalities and FLT3 internal duplication.急性髓系白血病患者中CEBPA突变的有利影响仅在不存在相关细胞遗传学异常和FLT3内部重复的情况下才会观察到。
Blood. 2009 May 21;113(21):5090-3. doi: 10.1182/blood-2008-12-194704. Epub 2009 Mar 16.
4
Heterogeneity within AML with CEBPA mutations; only CEBPA double mutations, but not single CEBPA mutations are associated with favourable prognosis.伴有CEBPA突变的急性髓系白血病（AML）存在异质性；只有CEBPA双突变而非CEBPA单突变与良好预后相关。
Br J Cancer. 2009 Apr 21;100(8):1343-6. doi: 10.1038/sj.bjc.6604977. Epub 2009 Mar 10.
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Further evidence that germline CEBPA mutations cause dominant inheritance of acute myeloid leukaemia.生殖系CEBPA突变导致急性髓系白血病显性遗传的进一步证据。
Leukemia. 2005 Jul;19(7):1276-8. doi: 10.1038/sj.leu.2403788.
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Origins of chromosome translocations in childhood leukaemia.儿童白血病中染色体易位的起源
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Leukemia in twins: lessons in natural history.双胞胎中的白血病：自然史的教训
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8
Dominant-negative mutations of CEBPA, encoding CCAAT/enhancer binding protein-alpha (C/EBPalpha), in acute myeloid leukemia.急性髓系白血病中编码CCAAT/增强子结合蛋白α（C/EBPα）的CEBPA的显性负性突变
Nat Genet. 2001 Mar;27(3):263-70. doi: 10.1038/85820.
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Possible explanation of the high concoddance for acute leukaemia in monozygotic twins.
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