ABL1 BCR-ABL T315I

虽然伊马替尼的疗效已经彻底改变了慢性粒细胞白血病(CML)的治疗,但它仍然不是一个治愈所有。在CML患者的一小部分患者中,既有最初的耐药性,也有因选择而获得的耐药性。ABL激酶域突变t315i(又名t334i)是一种对伊马替尼产生耐药性的突变。针对BCR-ABL的第二代TKI(达沙替尼和波那替尼)已显示出治疗耐药病例的疗效。
While the efficacy of imatinib has revolutionized chronic myelogenous leukemia (CML) treatment, it is still not a cure-all. Both initial resistance and acquired resistance as a result of selection have been seen in a small subset of CML patients. The ABL kinase domain mutation T315I (aka T334I) has been shown to be one such mutation that confers resistance to imatinib. Second generation TKI's (dasatinib and ponatinib) specific to BCR-ABL have shown efficacy in treating resistant cases.

别名

THR334ILE,RS121913459,BCR-ABL THR315ILE
Allele Registry ID:CA122575
ClinVar ID:12624

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
9133748283133748283CT
Transcript
ENST00000318560.5

基因序列

NM_007313.2:c.1001C>003eT
NP_005148.2:p.Thr315Ile
ENST00000372348.2:c.1001C>003eT
NC_000009.11:g.133748283C>003eT