Tufted angioma with associated Kasabach-Merritt phenomenon caused by somatic mutation in GNA14.
Pediatr Dermatol
; 36(6): 963-964, 2019 Nov.
Article
em En
| MEDLINE
| ID: mdl-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.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Neoplasias Cutâneas
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Subunidades alfa Gq-G11 de Proteínas de Ligação ao GTP
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Síndrome de Kasabach-Merritt
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Hemangioma
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Mutação
Tipo de estudo:
Prognostic_studies
/
Risk_factors_studies
Limite:
Humans
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Male
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Newborn
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article