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Occult pulmonary synovial sarcoma confirmed by molecular techniques
P Argani1, F B Askin, P Colombani
1Department of Pathology, The Johns Hopkins Hospital, 600 North Wolfe Street, Baltimore, MD 21287, USA.
Summary
A rare lung synovial sarcoma was found during surgery for pneumothorax in a teen. Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed the SYT/SSX gene fusion, aiding diagnosis.
Area of Science:
- Pulmonology
- Oncology
- Molecular Pathology
Background:
- Synovial sarcoma is a rare soft tissue tumor.
- Lung involvement is uncommon, especially in adolescents.
- Occult primary tumors pose diagnostic challenges.
Observation:
- A minute, occult synovial sarcoma of the lung was incidentally discovered during intraoperative repair of pneumothorax in a 17-year-old male.
- Extensive imaging and physical examinations ruled out other primary tumor sites.
- The tumor was surgically resected during the pneumothorax procedure.
Findings:
- Histopathological examination of the lung biopsy revealed synovial sarcoma.
- Reverse transcriptase polymerase chain reaction (RT-PCR) confirmed the pathognomonic SYT/SSX gene fusion in RNA extracted from the paraffin-embedded biopsy.
- The genetic fusion provided definitive molecular confirmation of the diagnosis.
Implications:
- This case highlights the importance of considering rare diagnoses even in unexpected settings.
- Intraoperative detection of unexpected malignancies can occur during thoracic surgery.
- RT-PCR for SYT/SSX fusion is a valuable tool for confirming synovial sarcoma diagnosis in challenging cases.
- Early detection and accurate molecular diagnosis are crucial for patient management and prognosis.