Article
Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum.
Clinical genetics - 1 Nov 2021
Carli Diana, Kalantari Silvia, Manicone Rosaria, Coppo Paola, Francia di Celle Paola, La Selva Roberta, Santoro Federica, Ranieri Carlotta, Cardaropoli Simona, Fagioli Franca, Ferrero Giovanni Battista, Resta Nicoletta, Mussa Alessandro
Abstract excerpt
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...
Topics
- Alleles
- Amino Acid Substitution
- Biopsy
- Class I Phosphatidylinositol 3-Kinases
- Genetic Association Studies
- Genetic Predisposition to Disease
- Genotype
- Growth Disorders
- Hemangioendothelioma