KIT基因编码的蛋白是干细胞因子受体SCFR,也被称为原癌基因c-kit或酪氨酸蛋白激酶kit或CD117,是一种受体酪氨酸激酶,这个基因突变与胃肠道间质瘤,肥大细胞病,急性髓性白血病有关。
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.
| Chr. | Start | Stop | Ref. s | Var. Bases |
| 4 | 55593582 | 55593708 | T | C |
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