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[Pathologic diagnosis on bone and soft tissue tumors by molecular biological methods]
1Department of Pathology, Kanazawa Medical University Hospital, Ishikawa.
Rinsho Byori. the Japanese Journal of Clinical Pathology
|July 1, 1997
Summary
Molecular analysis aids in diagnosing bone and soft tissue tumors. Detecting specific gene fusions, like SYT/SSX in synovial sarcoma and EWS/Fli1 in Ewing's sarcoma, improves diagnostic accuracy.
Area of Science:
- Oncology
- Molecular Biology
- Genetics
Background:
- Bone and soft tissue tumors can exhibit characteristic chromosome aberrations.
- Specific translocations lead to chimeric fusion genes, such as t(X;18) in synovial sarcoma, t(11;22) in Ewing's sarcoma, and t(2;13) in alveolar rhabdomyosarcoma.
Observation:
- Chromosome analysis and reverse transcription-polymerase chain reaction (RT-PCR) were employed for diagnosis and follow-up.
- All 10 synovial sarcoma cases showed the SYT/SSX chimeric product.
- Eleven Ewing's sarcoma/primitive neuroectodermal tumor cases displayed six variants of EWS/Fli1 chimeric products via PCR.
Findings:
- PAX3/FKHD or PAX7/FKHD transcripts were amplified in alveolar rhabdomyosarcoma.
- MyoD1 and myogenin gene expression was observed in most rhabdomyosarcomas.
- RT-PCR successfully identified specific gene fusions characteristic of these tumors.
Implications:
- Molecular biological analysis serves as a valuable supplementary tool for the pathological diagnosis of bone and soft tissue tumors.
- Identifying specific genetic alterations can refine tumor classification and potentially guide treatment strategies.
- This approach enhances diagnostic precision beyond traditional histopathology.