Comparison of lesional skin c ‐KIT mutations with clinical phenotype in patients with mastocytosis

ConclusionsActivating c‐KIT mutations exist in a significant portion of patients with mastocytosis, but not all patients showed expression of these mutations. Except for V560G, the presence or absence of activating c‐KIT mutations did not predict the extent of disease. These observations suggest that although activating c‐KIT mutations are associated with mast cell growth, other genes probably play a role in the cause of mastocytosis.

Source: Clinical And Experimental Dermatology - January 1, 2018 Category: Dermatology Authors: I J. Chan, M. D. Tharp Tags: Original Article Source Type: research