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AME case reports · 2026

SMARCA4-deficient undifferentiated thoracic tumors with rare nasal cavity and gluteal metastases: a case report and literature review.

Клинический случайСтатьяНазвание и аннотация: Перевод пока не подготовлен
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Mao Danhong, Li Jinyan, Chen Hongbo, Liu Yujie, Li Ronggang, Peng Qihua, Liu Dongying, Wang Zhihui, Xiao Lin

Аннотация

BACKGROUND: SMARCA4-deficient undifferentiated thoracic tumor (SMARCA4-UT) is an extremely aggressive malignancy that primarily affects the lung and mediastinum. It predominantly occurs in males with a heavy smoking history, and the associated survival typically does not exceed 1 year. Currently, no standard treatment regimen has been established for this disease, and a limited response to conventional chemotherapy has been noted in SMARCA4-UT. Some studies have suggested that multimodal management combining immunotherapy with chemotherapy and local consolidation therapy may offer a certain survival benefit for this disease.

CASE DESCRIPTION: Here, we report the case of a 73-year-old male with a long history of heavy smoking who was diagnosed with SMARCA4-UT with brain metastasis. The patient exhibited a negative driver gene status and a programmed death ligand-1 (PD-L1) tumor proportion score (TPS) of <1%. During disease progression, he developed rare nasal cavity and gluteal metastases. A multimodal treatment strategy was employed for this patient. Initially, systemic therapy comprising sintilimab plus chemotherapy, along with stereotactic radiosurgery (SRS) for brain metastasis, was administered. This combined approach was followed by consolidation radical radiotherapy for pulmonary lesions, and a partial response (PR) was achieved. Upon disease progression, newly emerging brain, nasal cavity, and gluteal metastases were managed with SRS, surgical resection, and palliative radiotherapy, respectively. The patient ultimately achieved an overall survival (OS) of 27 months.

CONCLUSIONS: In this case, a comprehensive treatment strategy was implemented, consisting primarily of chemotherapy combined with immunotherapy, along with dynamic and real-time local interventions, such as surgical resection and radiotherapy for residual or oligometastatic lesions. The results indicate that this approach may confer significant survival benefit in patients with SMARCA4-UT with rare nasal cavity and gluteal metastases, irrespective of PD-L1 expression levels.