Lipoblastoma phenotype contains a somatic PIK3CA mutation | Zendy

Sudduth Christopher L. | Zendy; Konczyk Dennis J. | Zendy; AlIbraheemi Alyaa | Zendy; Smits Patrick J. | Zendy; Greene Arin K. | Zendy

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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.

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