Kaposiform hemangioendothelioma further broadens the phenotype of PIK3CA-related overgrowth spectrum

Clin Genet. 2021 Nov;100(5):624-627. doi: 10.1111/cge.14047. Epub 2021 Aug 23.

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.

Keywords: Kaposiform hemangioendothelioma; PIK3CA; PIK3CA-related overgrowth spectrum; PROS; mixed vascular-lymphatic malformations.

Publication types

  • Case Reports

MeSH terms

  • Alleles
  • Amino Acid Substitution
  • Biopsy
  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • Genetic Association Studies
  • Genetic Predisposition to Disease
  • Genotype
  • Growth Disorders / diagnosis*
  • Growth Disorders / genetics*
  • Hemangioendothelioma / diagnosis*
  • Hemangioendothelioma / genetics*
  • Humans
  • Immunohistochemistry
  • Infant
  • Kasabach-Merritt Syndrome / diagnosis*
  • Kasabach-Merritt Syndrome / genetics*
  • Male
  • Mutation*
  • Phenotype*
  • Radiography
  • Sarcoma, Kaposi / diagnosis*
  • Sarcoma, Kaposi / genetics*

Substances

  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human

Supplementary concepts

  • Kaposiform Hemangioendothelioma