SMARCA4-deficient undifferentiated thoracic tumor: A case report

BACKGROUND: SMARCA4-deficient undifferentiated tumors (SMARCA4-DUTs) present with diverse clinical manifestations and progress to metastasis and even cause death within a few months. This novel subset of undifferentiated tumors occurs in the middle-aged population and is strongly associated with a smoking history. Distinguishing it from other malignancies is challenging. CASE SUMMARY: A 62-year-old man presented with chest pain for 7 d. The patient had no respiratory symptoms and normal pulmonary function test results. The patient had been a smoker for 8 years and quit smoking 2 years ago. Chest computed tomography revealed a huge mass involving the left upper and lower lung lobes with pericardial invasion and multiple metastases. Tumor samples were obtained using open frozen biopsy, after several unsuccessful attempts. The tumor was composed of sheets of undifferentiated disclosive cells with vesicular nuclei and prominent nucleoli. The differential diagnosis included high-grade lymphoma, germ cell tumor, NUT carcinoma, undifferentiated carcinoma, and sarcoma. The tumor cells were large, arranged in sheets, and did not exhibit glandular or squamous differentiation. Frequent foci of necrosis were noted. There was no evidence of epithelial differentiation on immunohistochemical staining. The SMARCA4 stain showed complete loss of expression of SMARCA4, which is diagnostic. CONCLUSION: In the present case, thoracic SMARCA4-DUT was diagnosed based on clinical features, absence of epithelial differentiation, and negative SMARCA4 expression.