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Multicentric osteosarcoma presenting as retrobulbar mass: a diagnostic enigma
1Department of Pathology, Queen Elizabeth Hospital, Hong Kong. kfwong@ha.org.hk
Pediatric Blood & Cancer
|June 1, 2005
Summary
Multicentric osteosarcoma, a rare bone cancer in children, presented unusually in a 9-year-old boy with a retrobulbar mass. Definitive diagnosis required examining tumoral osteoid formation in bone marrow biopsy.
Area of Science:
- Pediatric Oncology
- Skeletal Radiology
- Cytogenetics
Background:
- Osteosarcoma is the most common primary malignant bone tumor in children and adolescents.
- Multicentric osteosarcoma, with synchronous lesions at multiple skeletal sites, is exceptionally rare.
- This case highlights a rare presentation of multicentric osteosarcoma in a pediatric patient.
Observation:
- A 9-year-old boy presented with a left retrobulbar non-sclerotic mass and multiple bone lesions.
- Radiological examination revealed mostly non-sclerotic bone lesions, with one exception in the left tibia.
- Initial biopsy of the retrobulbar mass yielded an unclassifiable poorly differentiated malignant tumor.
Findings:
- Marrow aspiration smears showed large, round cells expressing NB84a.
- Trephine biopsy revealed tumoral osteoid formation by malignant cells, confirming osteosarcoma.
- Cytogenetic study identified a hypertetraploid clone with complex structural abnormalities.
Implications:
- This case underscores the diagnostic challenges of rare multicentric osteosarcoma presentations.
- The study emphasizes the importance of thorough histopathological examination, including bone marrow biopsy, for definitive diagnosis.
- Findings contribute to understanding the cytogenetic landscape of rare pediatric osteosarcoma variants.