Targeted therapy in patients with PIK3CA-related overgrowth syndrome

Nature. 2018 Jun;558(7711):540-546. doi: 10.1038/s41586-018-0217-9. Epub 2018 Jun 13.

Abstract

CLOVES syndrome (congenital lipomatous overgrowth, vascular malformations, epidermal naevi, scoliosis/skeletal and spinal syndrome) is a genetic disorder that results from somatic, mosaic gain-of-function mutations of the PIK3CA gene, and belongs to the spectrum of PIK3CA-related overgrowth syndromes (PROS). This rare condition has no specific treatment and a poor survival rate. Here, we describe a postnatal mouse model of PROS/CLOVES that partially recapitulates the human disease, and demonstrate the efficacy of BYL719, an inhibitor of PIK3CA, in preventing and improving organ dysfunction. On the basis of these results, we used BYL719 to treat nineteen patients with PROS. The drug improved the disease symptoms in all patients. Previously intractable vascular tumours became smaller, congestive heart failure was improved, hemihypertrophy was reduced, and scoliosis was attenuated. The treatment was not associated with any substantial side effects. In conclusion, this study provides the first direct evidence supporting PIK3CA inhibition as a promising therapeutic strategy in patients with PROS.

Publication types

  • Case Reports
  • Clinical Trial
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Animals
  • Child
  • Class I Phosphatidylinositol 3-Kinases / antagonists & inhibitors*
  • Class I Phosphatidylinositol 3-Kinases / metabolism*
  • Disease Models, Animal
  • Female
  • HeLa Cells
  • Heart Failure / complications
  • Heart Failure / drug therapy
  • Humans
  • Lipoma / drug therapy*
  • Lipoma / enzymology*
  • Male
  • Mice
  • Molecular Targeted Therapy*
  • Musculoskeletal Abnormalities / drug therapy*
  • Musculoskeletal Abnormalities / enzymology*
  • Nevus / drug therapy*
  • Nevus / enzymology*
  • Phenotype
  • Scoliosis / complications
  • Scoliosis / drug therapy
  • Sirolimus / therapeutic use
  • Syndrome
  • Thiazoles / therapeutic use*
  • Vascular Malformations / drug therapy*
  • Vascular Malformations / enzymology*
  • Vascular Neoplasms / complications
  • Vascular Neoplasms / drug therapy

Substances

  • Thiazoles
  • Alpelisib
  • Class I Phosphatidylinositol 3-Kinases
  • PIK3CA protein, human
  • Sirolimus

Supplementary concepts

  • Congenital Lipomatous Overgrowth, Vascular Malformations, and Epidermal Nevi