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。
V560位于Kit外显子11的juxtamembrane域中。在黑色素瘤中,这个区域是一个4个热点,是第三高的复发突变区域。小鼠模型已经表明,这个热点的突变导致KIT的组成磷酸化,这将诱导更强烈的PI3K途径活化,然而,如果缺失遵循相同的模型,目前还不清楚。采用v560del治疗胃肠道间质瘤的病例研究表明,伊马替尼和雷格拉芬尼治疗时具有敏感性。
V560 Resides within the Juxtamembrane domain on exon 11 of KIT. In melanoma this region is one 4 hotspots and is the 3rd highest recurrently mutated region. Mouse models have shown that mutations in this hotspot lead to constitutive phosphorylation of KIT which will induce a stronger activation of the PI3K pathway however it is currently unknown if deletions follow the same model. Case studies in Gastrointestinal Stromal Tumors with V560DEL have reported a sensitivity when treated with imatinib and regorafenib.
| Chr. | Start | Stop | Ref. s | Var. Bases |
| 4 | 55593612 | 55593614 | GTT | |
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