KIT V560DEL

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.