Lipoblastoma Phenotype Contains A Somatic Pik3ca Mutation

Lipoblastoma typically occurs in childhood and is associated with rearrangements of thePLAG1gene. We present a patient with an isolated mass thought to be a lipoblastoma clinically, radiographically, and histologically. The lesion was diagnosed as aPIK3CA-adipose lesion after the tissue was negative forPLAG1rearrangement and contained a somaticPIK3CAmutation (H1047R). AlthoughPIK3CAvariants are associated with PROS (PIK3CA-related overgrowth spectrum), this report illustrates a non-syndromic, lipoblastoma phenotype caused by aPIK3CAmutation.