DNMT3A R882

dnmt3a r882突变与细胞遗传学正常的急性髓系白血病(cn-aml)有关,其中r882h是最常见的形式。dnmt3a的突变在很大程度上与较差的预后有关,但这在所有研究中并不一致。这可能是患者年龄的结果,或者在分析过程中结合了R882和非R882突变,因为研究表明这些突变类型具有独立的作用机制和不同的预后意义。一项独立分析R882和非R882突变的研究表明,R882突变与预后差于野生型和非R882突变患者,但仅与AML老年患者相关。
DNMT3A R882 mutations are associated with cytogenetically normal acute myeloid leukemia (CN-AML) with R882H as the most common form. Mutations in DNMT3A have largely been associated with poorer prognosis, however this is not consistent across all studies. This may be a result of patient age or combining R882 and non-R882 mutations during analysis as studies have indicated independent mechanisms of action and differential prognostic implications for these mutation types. One study that independently analyzed R882 and non-R882 mutations showed R882 mutations were associated with poorer prognosis than patients with wildtype and non-R882 mutations, but only in older patients with AML.

别名

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
22545724125457243
Transcript
ENST00000264709.3

基因序列