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  • Title: Tufted angioma with associated Kasabach-Merritt phenomenon caused by somatic mutation in GNA14.
    Author: Lim YH, Fraile C, Antaya RJ, Choate KA.
    Journal: Pediatr Dermatol; 2019 Nov; 36(6):963-964. PubMed ID: 31423605.
    Abstract:
    Tufted angioma (TA) is a rare vascular tumor characterized by histologic tufts of proliferating capillaries that occurs in infancy or early childhood, with a poorly understood pathogenesis. Though benign, TA can be associated with the Kasabach-Merritt phenomenon (KMP), a life-threatening consumptive coagulopathy and thrombocytopenia. Here, we explored the genetic mechanism underlying a case of TA associated with KMP via targeted sequencing of laser capture micro-dissected lesion and blood DNA, and identified a somatic, activating GNA14 mutation specific to the tumor. Our findings support aberrant GNA14 activation underlies the pathogenesis of TA associated with KMP.
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