CBFB CBFB-MYH11

cbfb-myh11是inv(16)(p13 q22)或t(16;16)(p13;q22)的结果,并且足以根据世卫组织标准诊断急性髓性白血病(在正确的设置中),即使当爆炸数为\u003c20%(Vardiman等人,Blood 2008)。与其他AML亚型(包括细胞遗传学正常)相比,这种融合通常与良好的预后相关;然而,在这种融合的背景下,额外突变的影响尚不完全清楚。具有这种融合的AML通常与其他影响编码核心结合因子亚单位的基因重排一起分组,称为CBF AML。
CBFB-MYH11 is the result of inv(16)(p13q22) or t(16;16)(p13;q22) and is sufficient for the diagnosis of acute myeloid leukemia (in the correct setting) according to WHO criteria, even when blast counts are \u003c20% (Vardiman et al, Blood 2008). This fusion is typically associated with favorable prognosis relative to other AML subtypes (including cytogenetically normal); however, the impact of additional mutations in the context of this fusion is incompletely understood. AMLs with this fusion are often grouped with other rearrangements affecting genes encoding core binding factor subunits, referred to as CBF AMLs.

别名

INV(16)(P13.1;Q22),T(16;16)(P13.1;Q22)
Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
166706314867116211
Transcript
ENST00000412916.2
COORDINATE 2
Chr.StartStopTranscript
161579702915820911ENST00000396324.3

基因序列