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Complex/cryptic EWSR1::FLI1/ERG Gene Fusions and 1q Jumping Translocation in Pediatric Ewing Sarcomas
Ying S Zou1,2,3, Laura Morsberger1,2,3, Melanie Hardy1,2,3
1Johns Hopkins Genomics, Baltimore, MD 21205, USA.
Genes
|June 28, 2023
Summary
Ewing sarcomas (ES) in children often involve EWSR1 gene fusions. This study identified novel complex EWSR1 rearrangements and common aneuploidies, crucial for accurate pediatric ES diagnosis and treatment.
Area of Science:
- Pediatric Oncology
- Cancer Genetics
- Molecular Pathology
Background:
- Ewing sarcoma (ES) is a rare pediatric cancer characterized by specific gene fusions, primarily involving EWSR1.
- Accurate detection of EWSR1 rearrangements is vital for diagnosis and treatment of ES.
- Complex and cryptic genetic alterations in ES can pose diagnostic challenges.
Purpose of the Study:
- To investigate novel complex and cryptic EWSR1 rearrangements in pediatric Ewing sarcoma.
- To analyze chromosomal abnormalities, including aneuploidies and translocations, in pediatric ES cases.
- To highlight the importance of comprehensive genetic analysis for diagnosing and managing pediatric ES.
Main Methods:
- Retrospective review of 218 pediatric ES cases at diagnosis.
- Analysis of genetic data from chromosome analysis, FISH/microarray, and gene-fusion assays for eight selected patients.
- Detailed characterization of EWSR1 rearrangements, translocations, and aneuploidies.
Main Results:
- Identified three cases with novel complex/cryptic EWSR1 rearrangements/fusions.
- Described a unique three-way translocation involving EWSR1::FLI1 fusion and a 1q jumping translocation.
- Observed frequent aneuploidies, including gain of chromosomes 8, 20, and 4, in all studied patients.
Conclusions:
- Complex and cryptic EWSR1 rearrangements and other chromosomal abnormalities are present in pediatric ES.
- A combination of genetic methods is essential for accurate diagnosis of intricate ES genetic alterations.
- Understanding these genetic findings aids in improving prognosis and treatment strategies for pediatric ES.
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