Osato Motomi, Ito Yoshiaki
Institute of Molecular and Cell Biology, Oncology Research Institute, National University of Singapore.
Crit Rev Eukaryot Gene Expr. 2005;15(3):217-28. doi: 10.1615/critreveukargeneexpr.v15.i3.40.
RUNX1/AML1, located on chromosome 21, is a key factor in the generation and maintenance of hematopoietic stem cells and the gene most frequently implicated in human leukemias. Chromosome translocations and point mutations are well-documented genetic alterations in RUNX leukemia (also known as CBF leukemia). In addition, overdosage or overexpression of RUNX1 is suspected to be a third mode of RUNX1 involvement in leukemogenesis. The possibility that this mode might underlie Down syndrome-related leukemias caused by trisomy of chromosome 21 is discussed.
RUNX1/AML1位于21号染色体上，是造血干细胞生成和维持过程中的关键因子，也是人类白血病中最常涉及的基因。染色体易位和点突变是RUNX白血病（也称为CBF白血病）中充分记录的基因改变。此外，RUNX1剂量过多或过表达被怀疑是RUNX1参与白血病发生的第三种模式。本文讨论了这种模式可能是21号染色体三体导致的唐氏综合征相关白血病基础的可能性。
