Diagnosis of NUT carcinoma of lung origin by next-generation sequencing: case report and review of the literature.

摘要: NUT carcinoma (NC) is an aggressive squamous tumor characterized by gene rearrangement, and the most common fusion form BRD4-NUT. However, NC diagnosis difficult for its rareness often being confused with a variety of poorly differentiated tumors. A 21-year-old Chinese woman was referred to our hospital cough intermittent fever. Chest computed tomography (CT) imaging revealed left lobe hilar mass. Fiberoptic bronchoscopy results showed that cells were differentiated. In combination immunohistochemistry staining, she misdiagnosed Ewing's sarcoma/primitive neuroectodermal tumor. Next-generation sequencing (NGS) revealing BRD4-NUT fusion, confirmed NC. Subsequently, pneumonectomy lymph node dissection performed, patient received pemetrexed lobaplatin treatment. NGS technology played important role in this case, it may have clinical use rare cancer guidance potential targeted therapies.