Key result
Surgical resection and VAI chemotherapy treat a rare ZC3H7B-BCOR fusion lung sarcoma.
Case Report (n=1)
This case highlights an extremely rare presentation of a BCOR-altered sarcoma originating in a visceral organ (the lung) with unexpected left atrial involvement.
Reports rare pulmonary ZC3H7B::BCOR sarcoma favoring malignant OFMT; extends fusion tumor spectrum and leaves optimal therapy open.
Introduction BCOR is a tumor suppressor gene that plays a vital role during embryogenesis and hematopoiesis. It can undergo several types of mutations. We are presenting a rare case of high-grade spindle cell sarcoma of the lung, ZC3H7B: BCOR fusion sarcoma, favoring malignant ossifying fibromyxoid tumor (OFMT), with metastasis to the lymph nodes and pancreas. Case Presentation A 43-year-old female presented with lower abdominal and hip pain. She reported an intermittent dry cough with minimal weight loss. The CT of the chest showed large left lower lobe (LLL) heterogenous branching opacity up to 6.5 cm with compression of the bronchi of the lobe (the CT chest image is attached). Endobronchial ultrasound-guided fine-needle aspiration (EBUS-FNA) was done, which showed spindled cell neoplasm (Ki67 40%), pathology attached. Immunohistochemistry was indicative of mesenchymal neoplasm. Synovial sarcoma, malignant peripheral nerve sheath tumor, and Ewing sarcoma were in differential diagnoses. Subsequently, a PET scan was performed, which showed increased fluorodeoxyglucose (FDG) uptake in the LLL mass, along with incidental findings of pancreatic and cervical lesions with uptake. The patient underwent a left lower lobectomy with a cuff of the left atrium due to tumor involvement (an unexpected intraoperative finding) and mediastinal lymph node dissection. Pathology review showed foci of bone, which raised the possibility of malignant OFMT, measuring up to 13.0 cm, invading into the bronchus, and 8/11 involved nodes. The repeat staging scans showed pleural effusion and a persistent pancreatic body lesion with soft tissue/superior mesenteric vein invasion. Pancreatic biopsy showed malignant spindle and round cell neoplasm, consistent with involvement by the patient’s known high-grade sarcoma. NeoGenomics (NGS) showed ZC3H7B: BCOR fusion. The patient has a BCOR fusion sarcoma, favoring malignant OFMT, without a significant round-cell (and thus not Ewing-like) component. She was treated for high-grade soft tissue sarcoma with the vincristine, doxorubicin, and ifosfamide (VAI) regimen. Discussion BCOR is the cornerstone for controlling lymphoid development and mesenchymal stem cell functions. The occurrence of BCOR-altered sarcoma is extremely rare, specifically in visceral organs as the primary site of origin. There is a documented case report of BCOR (B-cell Line 6 Corepressor)-altered sarcomas (BAS) in the pediatric population diagnosed with Ewing sarcoma. Lymphoid follicles are the main site where BCL6 is expressed predominantly; BCOR mutations manifest in the form of mesenchymal tumors, hematologic malignancies, and OFCD. This abstract is funded by: None
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Mushtaq et al. (2026) conducted a case report in ZC3H7B: BCOR fusion sarcoma of the lung (n=1). Left lower lobectomy, mediastinal lymph node dissection, and VAI regimen (vincristine, doxorubicin, and ifosfamide) was evaluated. A 43-year-old female with a rare ZC3H7B: BCOR fusion sarcoma of the lung was diagnosed and treated with surgical resection and the VAI chemotherapy regimen.
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