In:
Clinical Genetics, Wiley, Vol. 100, No. 5 ( 2021-11), p. 624-627
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.
Type of Medium:
Online Resource
ISSN:
0009-9163
,
1399-0004
Language:
English
Publisher:
Wiley
Publication Date:
2021
detail.hit.zdb_id:
2004581-5
