a Department of Thoracic Surgery , Affiliated Tumor Hospital of Guangxi Medical University , Nanning , China.
b Origimed , Shanghai , China.
Cancer Biol Ther. 2019;20(2):150-156. doi: 10.1080/15384047.2018.1523852. Epub 2018 Oct 11.
NUT carcinoma (NC) is an aggressive squamous tumor characterized by NUT gene rearrangement, and the most common fusion form is BRD4-NUT. However, NC diagnosis is difficult for its rareness and often being confused with a variety of poorly differentiated tumors. A 21-year-old Chinese woman was referred to our hospital for cough and intermittent fever. Chest computed tomography (CT) imaging revealed a left lobe hilar mass. Fiberoptic bronchoscopy results showed that tumor cells were poorly differentiated. In combination with immunohistochemistry staining, she was misdiagnosed with Ewing's sarcoma/primitive neuroectodermal tumor. Next-generation sequencing (NGS) revealing BRD4-NUT fusion, and NUT immunohistochemistry confirmed the diagnosis of NC. Subsequently, left pneumonectomy and lymph node dissection were performed, and the patient received pemetrexed and lobaplatin treatment. NGS technology played an important role in NC diagnosis in this case, and it may have clinical use for rare cancer diagnosis and guidance of potential targeted therapies.
神经内分泌肿瘤（NC）是一种侵袭性的鳞状肿瘤，其特征是 NUT 基因重排，最常见的融合形式是 BRD4-NUT。然而，由于其罕见性，NC 的诊断较为困难，常与多种低分化肿瘤相混淆。一名 21 岁的中国女性因咳嗽和间歇性发热被转至我院。胸部计算机断层扫描（CT）成像显示左肺门肿块。纤维支气管镜检查结果显示肿瘤细胞分化不良。结合免疫组织化学染色，她被误诊为尤文氏肉瘤/原始神经外胚层肿瘤。下一代测序（NGS）显示 BRD4-NUT 融合，NUT 免疫组织化学证实了 NC 的诊断。随后，进行了左全肺切除术和淋巴结清扫术，患者接受培美曲塞和洛铂治疗。在本例中，NGS 技术在 NC 诊断中发挥了重要作用，它可能对罕见癌症的诊断和潜在靶向治疗的指导具有临床应用价值。
