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Updated: Jan 20, 2026

Author Spotlight: Advancing the Detection of Low-Frequency Mutations in Cancer Tissues
Published on: August 23, 2024
Tufted angioma with associated Kasabach-Merritt phenomenon caused by somatic mutation in GNA14
Young H Lim1,2,3, Carmen Fraile1,4, Richard J Antaya1,4
1Department of Dermatology, Yale University School of Medicine, New Haven, CT, USA.
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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