Lipoblastoma phenotype contains a somatic PIK3CA mutation
Christopher L Sudduth1, Dennis J Konczyk1, Alyaa Al-Ibraheemi2
1Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.
Abstract:
Lipoblastoma typically occurs in childhood and is associated with rearrangements of the PLAG1 gene. We present a patient with an isolated mass thought to be a lipoblastoma clinically, radiographically, and histologically. The lesion was diagnosed as a PIK3CA-adipose lesion after the tissue was negative for PLAG1 rearrangement and contained a somatic PIK3CA mutation (H1047R). Although PIK3CA variants are associated with PROS (PIK3CA-related overgrowth spectrum), this report illustrates a non-syndromic, lipoblastoma phenotype caused by a PIK3CA mutation.
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