Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.
Clin Genet
; 100(5): 624-627, 2021 11.
Article
em En
| MEDLINE
| ID: mdl-34402524
ABSTRACT
Kaposiform hemangioendothelioma (KHE) is a rare locally aggressive mixed vascular tumor, with typical onset in early childhood and characterized by progressive angio- and lymphangiogenesis. Its etiopathogenesis and molecular bases are still unclear. Here, we report the first case of congenital KHE harboring a PIK3CA mosaic pathogenic variant (c.323G > A, p.Arg108His) in a boy with very subtle PIK3CA-related overgrowth spectrum (PROS) features. This finding provides insights into the pathophysiology of KHE, offering targeted therapeutic options by inhibition of the PI3K/Akt/mTOR pathway. We propose the inclusion of this mixed lymphatic and vascular anomaly within the PROS.
Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Fenótipo
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Sarcoma de Kaposi
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Classe I de Fosfatidilinositol 3-Quinases
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Síndrome de Kasabach-Merritt
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Transtornos do Crescimento
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Hemangioendotelioma
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Mutação
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Humans
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Infant
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Male
Idioma:
En
Revista:
Clin Genet
Ano de publicação:
2021
Tipo de documento:
Article
País de afiliação:
Itália