[PIK3CA-related overgrowth syndrome (PROS)]

Nephrol Ther. 2017 Apr:13 Suppl 1:S155-S156. doi: 10.1016/j.nephro.2017.02.004.
[Article in French]


This review presents an overview of a recently characterized spectrum of overgrowth syndrome: phosphoinositide-3 kinase (PI3K)-related overgrowth spectrum (PROS). This spectrum encompasses overgrowth syndromes associated with somatic mosaic activating PIK3CA mutations such as megalencephaly-capillary malformation (MCAP) syndrome, dysplatic megalencephaly (DMEG), congenital lipomatous asymmetric overgrowth of the trunk, lymphatic, capillary, venous, and combined-type vascular malformations, epidermal nevi, skeletal and spinal anomalies (CLOVES) syndrome, hemihyperplasia-multiple lipomatosis (HHML), fibroadipose overgrowth and Klippel-Trenaunay syndrome. Mosaic gain of function mutation in PIK3CA gene leads to abnormal AKT-mTOR pathway activation and is responsible of the clinical manifestations. Here, we summarize the current knowledge on this disorder.

Keywords: Diagnosis and therapeutics; Diagnostic; Hypertophy; Hypertrophie; PIK3CA; Traitement.

Publication types

  • Review

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Biomarkers / blood
  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Humans
  • Lipomatosis / genetics
  • Musculoskeletal Abnormalities / genetics
  • Mutation*
  • Phenotype
  • Syndrome
  • Vascular Malformations / genetics


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