Diagnostic challenges in synovial sarcoma: a case report.

Area of Science:

• Oncology
• Pathology
• Medical Diagnostics

Background:

• Synovial sarcoma (SS) is a rare, aggressive soft-tissue neoplasm characterized by the SS18::SSX fusion oncogene.
• The monophasic subtype, composed of spindle cells, is common but often presents with subtle clinical findings, leading to diagnostic challenges.
• Delayed diagnosis of SS can result in advanced disease and poorer prognoses due to its high metastatic potential.

Purpose of the Study:

• To highlight the diagnostic complexities and clinical presentation of synovial sarcoma.
• To emphasize the importance of vigilance in identifying slow-growing soft-tissue tumors.
• To underscore the necessity of multidisciplinary care in managing SS.

Main Methods:

• A case report of a 43-year-old male with a large calf mass and pulmonary nodules.
• Diagnostic workup included CT, MRI, and histologic examination of lung biopsies.
• Immunohistochemistry revealed vimentin, BCL-2, and TLE-1 positivity, consistent with monophasic SS.

Main Results:

• Imaging revealed a 14.3 cm intramuscular mass with calcifications and suspicious pulmonary nodules.
• Histology confirmed monophasic synovial sarcoma, though molecular confirmation of SS18::SSX fusion was not obtained.
• The patient's metastatic disease progressed, leading to death from pulmonary complications approximately 6 months later.

Conclusions:

• Synovial sarcoma diagnosis can be complex due to subtle clinical features and slow progression.
• Multidisciplinary collaboration is vital for accurate diagnosis and effective treatment planning.
• Prompt identification and comprehensive management are key to improving outcomes for patients with SS.