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

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