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.
Pediatric Dermatology
|October 9, 2020
Summary
A childhood lipoblastoma case revealed a PIK3CA mutation, not the typical PLAG1 gene rearrangement. This finding suggests PIK3CA mutations can cause non-syndromic lipoblastoma phenotypes.
Area of Science:
- Pediatric Oncology
- Molecular Genetics
- Pathology
Background:
- Lipoblastoma, a rare pediatric soft tissue tumor, is classically linked to PLAG1 gene rearrangements.
- Understanding the genetic basis of lipoblastoma is crucial for accurate diagnosis and treatment.
Observation:
- A case presented with an isolated mass clinically, radiographically, and histologically resembling lipoblastoma.
- Genetic analysis revealed the absence of PLAG1 rearrangement.
- A somatic PIK3CA mutation (H1047R) was identified in the tumor tissue.
Findings:
- The lesion was reclassified as a PIK3CA-adipose lesion based on molecular findings.
- This case demonstrates a lipoblastoma-like phenotype driven by a PIK3CA mutation.
- The patient did not exhibit features of PIK3CA-related overgrowth spectrum (PROS).
Implications:
- PIK3CA mutations should be considered in the differential diagnosis of pediatric lipoblastoma-like lesions.
- This expands the phenotypic spectrum associated with PIK3CA mutations beyond typical PROS.
- Highlights the importance of molecular testing for precise tumor subtyping and understanding tumorigenesis.
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