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Mandibular Ewing sarcoma with chromosomal translocation t(21;22)(q22;q12)
Maiko Shibasaki1, Toshinori Iwai, Jiro Maegawa
1Department of Oral and Maxillofacial Surgery, Yokohama City University Hospital, Yokohama, Kanagawa, Japan.
The Journal of Craniofacial Surgery
|July 16, 2013
Summary
This study reports a rare case of mandibular Ewing sarcoma (ES) in a child. Unlike typical cases, this patient had a unique chromosomal translocation involving the EWS and ERG genes.
Area of Science:
- Oncology
- Genetics
- Pediatric Malignancy
Background:
- Ewing sarcoma (ES) is a rare bone cancer affecting children and adolescents, typically occurring in long bones or the pelvis.
- Most ES cases involve a specific chromosomal translocation, t(11;22), fusing the EWS and FLI-1 genes.
- Mandibular ES is exceptionally rare, presenting unique diagnostic and therapeutic challenges.
Observation:
- A 10-year-old child presented with mandibular Ewing sarcoma.
- Genetic analysis revealed a novel chromosomal translocation, t(21;22)(q22;q12).
- This translocation resulted in the fusion of the EWS gene with the ERG gene, differing from the common EWS-FLI-1 fusion.
Findings:
- The identified EWS-ERG fusion in mandibular ES represents a rare genetic subtype.
- This case expands the known spectrum of chromosomal abnormalities associated with Ewing sarcoma.
- The findings highlight the genetic heterogeneity of pediatric bone malignancies.
Implications:
- Understanding rare genetic fusions in ES is crucial for accurate diagnosis and targeted therapies.
- This case underscores the importance of comprehensive genetic profiling in pediatric oncology.
- Further research into EWS-ERG fusion may reveal specific therapeutic vulnerabilities in this rare subtype of Ewing sarcoma.
