KIT EXON 11 MUTATION

外显子11的c-kit突变位于并列膜域内,在胃肠道间质瘤中非常复发,通常比其他kit突变预后较差。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。有外显子11-kit突变的黑色素瘤患者的小队列已经显示了对伊马替尼和舒尼替尼的反应。
c-KIT mutations in exon 11 lie within the juxtamembrane domain, and are very recurrent in gastrointestinal stromal tumors, often bearing a poorer prognosis than other KIT mutations. 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. Small cohorts of melanoma patients harboring exon 11 KIT mutations have shown response to imatinib and sunitinib.

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