WOFAPS 2025 8th World Congress of Pediatric Surgery

Arije Zouaoui, Asma Guitouni, Sondes Sahli, Yosra Kerkeni, Riadh Jouini

Pediatric Surgery Department, Children's Hospital Bechir Hamza, Tunis, Tunisia

Introduction:
Synovial sarcoma (SS) of the lungs and pleura is an exceptionally rare entity, especially in young children, posing significant diagnostic challenges. Given its rarity and atypical presentation, SS is often misdiagnosed, particularly when located in unusual thoracic sites. We report a rare case of pleuropulmonary SS initially suspected to be a diaphragmatic tumor.

Case Presentation:
A 3-year-old boy presented with acute respiratory distress requiring intensive care unit admission. Chest imaging revealed multiple (>10) pleura-based masses occupying the right hemithorax. Based on the clinical and radiological findings, a diagnosis of diaphragmatic rhabdomyosarcoma was initially suggested. A transthoracic biopsy was performed. Histopathological examination, supported by immunohistochemistry and FISH analysis, confirmed the diagnosis of synovial sarcoma, characterized by the chromosomal translocation t(X;18)(p11.1;q11.2). Neoadjuvant chemotherapy resulted in a 90% reduction in tumor burden. Surgical management included wedge resection of the lower pulmonary lobe, excision of 40 mm of diaphragm, and resection of multiple pleural nodules. Pathological examination revealed minimal residual viable tumor cells. Postoperative management consisted of adjuvant radiotherapy combined with chemotherapy. The patient remains in complete remission at two-year follow-up.

Conclusion:
Primary pleuropulmonary synovial sarcoma in children is extremely rare and can mimic more common thoracic malignancies such as rhabdomyosarcoma. Diagnosis relies on histopathological evaluation and molecular confirmation of the characteristic t(X;18) translocation. Early recognition and multimodal treatment, including surgery and radio-chemotherapy, are essential for improving outcomes in these unusual presentations.