Lipoblastoma phenotype contains a somatic PIK3CA mutation.

Christopher L Sudduth, Dennis J Konczyk, Alyaa Al-Ibraheemi, Patrick J Smits, Arin K Greene

Pediatric dermatology 2021 Jan

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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. © 2020 Wiley Periodicals LLC.

Citation

Christopher L Sudduth, Dennis J Konczyk, Alyaa Al-Ibraheemi, Patrick J Smits, Arin K Greene. Lipoblastoma phenotype contains a somatic PIK3CA mutation. Pediatric dermatology. 2021 Jan;38(1):299-300