鼻腔睾丸核蛋白中线癌：一例病例报告及文献综述。

文献信息

中文摘要

背景： 睾丸核蛋白（NUT）中线癌（NMC）是一种极为罕见、高度侵袭性且低分化的恶性肿瘤，主要起源于头颈部中线上皮结构。它由NUTM1基因的遗传重排驱动，最常见的异常是与19p13.1染色体上的BRD4形成融合基因的易位。由于NMC的临床和组织学特征非特异性，其诊断具有挑战性，通常需要结合NUT蛋白的免疫组化检测和分子检测来确认NUTM1基因重排。NMC的预后极差，中位总生存期不足一年。迄今为止，尚未建立标准治疗方案，文献中仅报道了个体化治疗策略。方法：本文报道一例40岁女性左侧鼻腔NMC患者，表现为鼻腔肿块、鼻塞、流涕、轻度鼻出血和嗅觉减退。结果：该患者根据病理和免疫组化结果诊断为NMC，分期为T2N0M0。她接受了多学科治疗，包括新辅助化疗、根治性手术、辅助放化疗以及随后的免疫检查点抑制剂（ICI）维持治疗。截至2026年2月最近一次随访，患者已达到完全缓解，无肿瘤复发证据。结论：我们得出结论，全面且强化的首次多学科治疗对于改善NMC患者的临床结局至关重要，该疾病本身具有高复发和进展风险以及不良的自然预后。

英文摘要

Nuclear protein in testis (NUT) midline carcinoma (NMC) is an extremely rare, highly aggressive, and poorly differentiated malignant neoplasm that predominantly arises from the midline epithelial structures of the head and neck. It is driven by genetic rearrangements of the NUTM1 gene, with the most common aberration being a translocation that forms a fusion gene with BRD4 on chromosome 19p13.1. The diagnosis of NMC is challenging due to its non-specific clinical and histological features, and it typically requires a combination of immunohistochemical detection of NUT protein and molecular assays to confirm NUTM1 gene rearrangement. The prognosis of NMC is dismal, with a median overall survival of less than one year. To date, no standard treatment regimen has been established, and only individualized therapeutic strategies have been reported in the literature. Herein, we present a case of a 40-year-old female patient with NMC of the left nasal cavity who presented with nasal mass, nasal obstruction, rhinorrhea, mild epistaxis, and hyposmia. The patient was diagnosed with NMC based on pathological and immunohistochemical findings, and was staged as T2N0M0. She received multidisciplinary treatment including neoadjuvant chemotherapy, radical surgery, adjuvant chemoradiotherapy, and subsequent immune checkpoint inhibitor (ICI) maintenance therapy. Up to the latest follow-up in February 2026, the patient had achieved complete remission with no evidence of tumor recurrence. We conclude that comprehensive and intensive first-line multidisciplinary therapy is crucial for improving clinical outcomes in patients with NMC, a disease with inherently high risks of recurrence and progression and a poor natural prognosis.