Premium
Lipoblastoma phenotype contains a somatic PIK3CA mutation
Author(s) -
Sudduth Christopher L.,
Konczyk Dennis J.,
AlIbraheemi Alyaa,
Smits Patrick J.,
Greene Arin K.
Publication year - 2020
Publication title -
pediatric dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.542
H-Index - 73
eISSN - 1525-1470
pISSN - 0736-8046
DOI - 10.1111/pde.14406
Subject(s) - lipoblastoma , phenotype , medicine , mutation , lesion , somatic cell , pathology , lipoma , gene , genetics , biology
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.