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Congenital Ewing sarcoma in retroperitoneum with multiple metastases
Yusuke Saito1, Akinobu Matsuzaki, Aiko Suminoe
1Department of Pediatrics, Graduate School of Medical sciences, Kyushu University, Fukuoka, Japan.
Pediatric Blood & Cancer
|July 16, 2008
Summary
A rare pediatric cancer, Ewing sarcoma, presented in a Japanese infant with leg immobility. Despite widespread metastasis, the infant survived over two years with treatment.
Area of Science:
- Pediatric Oncology
- Molecular Diagnostics
- Cancer Metastasis
Background:
- Ewing sarcoma is a rare bone and soft tissue cancer primarily affecting children and young adults.
- Early diagnosis and understanding of metastatic patterns are crucial for effective treatment strategies.
Observation:
- A 7-day-old infant presented with absent spontaneous leg movement.
- Magnetic Resonance Imaging (MRI) revealed retroperitoneal tumors with invasion into the spinal canal, brain, and eye.
Findings:
- Histological examination showed undifferentiated small round cells, characteristic of Ewing sarcoma.
- Reverse Transcription Polymerase Chain Reaction (RT-PCR) confirmed the EWS-FLI1 fusion gene, a hallmark of Ewing sarcoma.
- The infant had widespread metastases at diagnosis.
Implications:
- This case highlights the aggressive nature of infant Ewing sarcoma and the challenges of metastatic disease.
- Despite extensive metastasis, chemo-radiotherapy offered a survival benefit of over two years.
- Early detection and molecular profiling are vital for managing pediatric sarcomas.