Novel, activating KIT-N822I mutation in familial cutaneous mastocytosis

We provided evidence that KIT p.N822I mutation has transforming potential and can cause a constitutive activation of KIT. In addition, we demonstrated that KIT-N822I is resistant to imatinib and sensitive to dasatinib. Finally, our findings support the hypothesis that not only KIT mutations but other additional genetic abnormalities are contributing to more advanced forms of the disease.