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Updated: Jul 9, 2025
07:42
Chromosome Preparation From Cultured Cells
Published on: January 28, 2014
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Chromothripsis in lipoblastoma: second reported case with complex PLAG1 rearrangement
Joel Lanceta1, Joseph Tripodi2, Lynne Karp3,4
1Department of Pathology and Laboratory Medicine, Northwell Health/Donald and Barbara Zucker School of Medicine at Hofstra, Manhasset, New York, USA. jlanceta@gmail.com.
Molecular Cytogenetics
|November 28, 2023
Summary
Lipoblastomas, rare childhood tumors, often show chromosome 8 changes involving the PLAG1 gene. This study reports a rare case of lipoblastoma with chromothripsis, a complex genomic rearrangement.
Area of Science:
- Pediatric Oncology
- Cancer Genomics
- Rare Tumors
Background:
- Lipoblastomas (LPBs) are rare benign neoplasms originating from embryonal adipose tissue, primarily affecting children.
- Genetic alterations, particularly rearrangements of chromosome 8 involving the PLAG1 proto-oncogene, are characteristic of LPBs.
Purpose of the Study:
- To report a case of lipoblastoma exhibiting chromothripsis.
- To contribute to the understanding of the genomic landscape of lipoblastomas.
Main Methods:
- Case report of a pediatric lipoblastoma.
- Cytogenetic and molecular analysis to identify chromosomal abnormalities.
Main Results:
- The lipoblastoma case demonstrated evidence of chromothripsis, a complex chromosomal shattering event.
- This represents the second documented instance of chromothripsis in lipoblastoma.
Conclusions:
- Chromothripsis is a rare but observed genomic event in lipoblastomas.
- Further research is needed to elucidate the role of chromothripsis in the pathogenesis of lipoblastomas.
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