PIK3CA-Related Overgrowth Spectrum

  • PIK3CA somatic mutations cause a spectrum of disease including:
    • Klippel-Trenaunay Syndrome
    • CLOVES
  • Clinical Features:
    • Overgrowth
    • Vascular anomalies
    • Lipomatous lesions
    • Epidermal Nevi
    • Skeletal anomalies (Scoliosis)
    • Hemihyperplasia
    • Developmental disability (some)
  • Tratamento
    • Genotyping provides targets for novel therapies
    • Mutation in PIK3CA leads to AKT-mTOR activation. Sirolimus bloqueia mTOR.
    • Direct PIK3CA inhibitors: Alpelisib