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Tufted angioma with associated Kasabach‐Merritt phenomenon caused by somatic mutation in GNA 14
Author(s) -
Lim Young H.,
Fraile Carmen,
Antaya Richard J.,
Choate Keith A.
Publication year - 2019
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.13979
Subject(s) - pathogenesis , consumptive coagulopathy , lesion , medicine , angioma , somatic cell , pathology , mutation , germline mutation , biology , vascular disease , genetics , gene , surgery , disseminated intravascular coagulation
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 GNA 14 mutation specific to the tumor. Our findings support aberrant GNA 14 activation underlies the pathogenesis of TA associated with KMP .