Lipoblastoma phenotype contains a somatic PIK3CA mutation.

Autor: Sudduth CL; Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Konczyk DJ; Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Al-Ibraheemi A; Department of Pathology, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Smits PJ; Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA., Greene AK; Department of Plastic and Oral Surgery, Harvard Medical School, Boston Children's Hospital, Boston, MA, USA.
Jazyk: angličtina
Zdroj: Pediatric dermatology [Pediatr Dermatol] 2021 Jan; Vol. 38 (1), pp. 299-300. Date of Electronic Publication: 2020 Oct 09.
DOI: 10.1111/pde.14406
Abstrakt: 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.)
Databáze: MEDLINE
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