A 33-year-old woman with primary pleural synovial sarcoma, confirmed via SS18:SSX1 fusion molecular testing, was treated with neoadjuvant ifosfamide-doxorubicin chemotherapy.
Case Report (n=1)
This case highlights the importance of molecular diagnostics in identifying rare thoracic malignancies such as primary pleural synovial sarcoma.
Abstract Introduction Primary pulmonary sarcomas are rare, accounting for approximately 0.5% of all primary lung malignancies. Among these, primary pulmonary synovial sarcoma (PPSS) constitutes about 16% .Diagnosis is often difficult because symptoms are nonspecific, and imaging findings can resemble more common thoracic malignancies such as mesothelioma or metastatic carcinoma . Definitive diagnosis requires histopathological evaluation supported by immunohistochemistry and molecular testing. Optimal management remains uncertain, though most cases favour complete surgical resection followed by adjuvant therapy. Case Presentation A 33-year-old Afro-Caribbean woman with no history of smoking, occupational exposure, or family malignancy presented with a two-year history of persistent left-sided pleuritic chest pain, progressive dyspnoea, and cough. Examination revealed mild tachypnoea and reduced breath sounds on the left. Chest radiography showed a left lower-zone opacity, while ultrasound demonstrated a well-circumscribed pleural density with a mild effusion. CT imaging revealed a 7 × 6 cm enhancing lesion in the left pleural space, and MRI confirmed a heterogeneous solid-cystic pleural mass measuring 98 × 69 mm. Video-assisted thoracoscopic surgery (VATS) was performed for drainage and biopsies of the pleural mass, pleural cavity, and diaphragm, with insertion of an intrapleural catheter. Histology demonstrated a high-grade epithelioid tumour negative for AE1/3, CD34, CD31, calretinin, WT1, desmin, and S100. Molecular testing via RNA fusion panel identified an SS18:SSX1 fusion, confirming synovial sarcoma (poorly differentiated epithelioid type). At the regional Sarcoma Multidisciplinary Team (MDT) meeting, resection was deferred due to tumour size and anatomical involvement. The patient commenced neoadjuvant ifosfamide-doxorubicin chemotherapy in August 2025, with ongoing imaging and clinical review to assess response. Discussion PPSS often presents with chest pain, dyspnoea, cough, or pleural effusion, leading to frequent misdiagnosis as pneumonia, mesothelioma, or metastatic carcinoma. Histological and immunohistochemical evaluation aids differentiation, but molecular confirmation via detection of the t(X;18)(p11.2;q11.2) translocation producing SS18-SSX1 or SS18-SSX2 fusion is diagnostic in over 90% of cases. Complete surgical resection with negative margins is the mainstay of treatment and the strongest predictor of survival. Adjuvant chemotherapy, typically with ifosfamide and doxorubicin, is recommended for high-grade or large tumours. Prognosis remains poor due to aggressive behaviour and high recurrence rates. Conclusion This case highlights the need to consider rare malignancies in atypical thoracic presentations. Molecular diagnostics are essential for accurate classification, and multidisciplinary management remains key to guiding treatment and improving outcomes in this aggressive, uncommon tumour. This abstract is funded by: Self
Siddiqui et al. (Fri,) conducted a case report in Primary pleural synovial sarcoma (n=1). Neoadjuvant ifosfamide-doxorubicin chemotherapy was evaluated. A 33-year-old woman with primary pleural synovial sarcoma, confirmed via SS18:SSX1 fusion molecular testing, was treated with neoadjuvant ifosfamide-doxorubicin chemotherapy.
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