Somatic PIK3CA mutations are present in multiple tissues of facial infiltrating lipomatosis

Pediatr Res. 2017 Nov;82(5):850-854. doi: 10.1038/pr.2017.155. Epub 2017 Aug 2.


BackgroundFacial infiltrating lipomatosis (FIL) is a congenital disorder that causes overgrowth of one side of the face. The purpose of this study was to determine whether PIK3CA mutations are present in tissues outside of the subcutaneous adipose.MethodsFIL tissues from three patients were dissected to enrich for cells from skin, subcutaneous tissue, orbicularis oris muscle, buccal fat, zygomatic bone, and mucosal neuroma. Endothelial cells within the affected tissue also were enriched using CD31 microbeads. Laser capture microdissection on formalin-fixed paraffin-embedded histologic sections was performed to collect specific cell types. DNA was extracted from each tissue and cell type, and measured for the abundance of mutant PIK3CA alleles using droplet digital PCR.ResultsWe detected mutant PIK3CA alleles in every tissue and cell type tested from each overgrown face; frequencies ranged from 1.5 to 53%. There were fewer mutant endothelial cells compared with nonendothelial cells, and the stromal cell compartment had the highest frequency of mutant cells in each tissue.ConclusionsPIK3CA mutations are not restricted to a single tissue or cell type in FIL. Overgrowth in this condition is likely due to the mutation arising in a cell that contributes to several different facial structures during embryogenesis.

Publication types

  • Case Reports

MeSH terms

  • Adipocytes / enzymology
  • Adipocytes / pathology
  • Adiposity / genetics*
  • Adolescent
  • Biopsy
  • Child
  • Child, Preschool
  • Class I Phosphatidylinositol 3-Kinases / genetics*
  • DNA Mutational Analysis
  • Endothelial Cells / enzymology
  • Endothelial Cells / pathology
  • Face
  • Female
  • Genetic Predisposition to Disease
  • Humans
  • Hypertrophy
  • Lipomatosis / diagnosis
  • Lipomatosis / enzymology
  • Lipomatosis / genetics*
  • Lipomatosis / pathology
  • Magnetic Resonance Imaging
  • Male
  • Mutation Rate
  • Mutation*
  • Phenotype
  • Stromal Cells / enzymology
  • Stromal Cells / pathology
  • Subcutaneous Fat / enzymology
  • Subcutaneous Fat / pathology*


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