KIT INTERNAL DUPLICATION

c-kit在外显子11中观察到,在并置膜域内。在一个包含此事件的肛门黑色素瘤患者的案例研究中,伊马替尼给予了显著的反应。此外,含有外显子11突变的细胞对酪氨酸激酶抑制剂伊马替尼具有敏感性,为第一年接受药物治疗的患者提供了更好的预后。
c-KIT internal duplications have been observed in exon 11, within the juxtamembrane domain. In a case study of an anal melanoma patient harboring this event, imatinib confered marked response. Also, cells harboring exon 11 mutations have shown sensitivity to the tyrosine kinase inhibitor imatinib, offering a better prognosis to patients treated with the drug in the first year.

别名


Allele Registry ID:
ClinVar ID:

突变位点

Ref. Build: GRCh37   Ensembl Version: 75
Chr.StartStopRef. sVar. Bases
45559358255593708TC
Transcript
ENST00000288135.5

基因序列