Abstract: Nuclear protein in testis (NUT) carcinoma (NC) is a poorly differentiated malignant tumor with a poor prognosis, which is caused by the NUTM1 gene rearrangement. Positive staining of NUT using immunohistochemistry (IHC) or gene rearrangement of NUTM1 revealed by genetic analysis, such as fluorescence in situ hybridization (FISH) or next-generation sequencing (NGS), are important strategies used for accurate diagnosis. In the current study, we present a case of NC in an 18-year-old man who had a chief complaint of nasal congestion, nasal bleeding, and anosmia. Magnetic resonance imaging revealed a mass in the nasal cavity and nasal septum. The initial pathological diagnosis was basaloid squamous cell carcinoma. Based on the tumor location and abrupt keratinization, further genetic tests were performed, and NC was diagnosed using FISH, which was further verified by IHC. However, neither DNA-based NGS nor RNA-based NGS revealed the NUTM1 gene rearrangement. Using this case as a basis, we have reviewed the related literature, compared the common diagnostic methods of NC, and discussed the advantages and limitations of current tools employed for molecular analysis of the gene fusion.

Keywords: NUTM1, NUT midline carcinoma, FISH, next-generation sequencing, gene rearrangement


中文翻译：

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尽管下一代测序结果为假阴性，但仍能诊断出 NUT 癌：病例报告和文献综述

【摘要】：睾丸核蛋白(NUT)癌(NC)是由NUTM1基因重排引起的低分化恶性肿瘤,预后较差。使用免疫组织化学 (IHC) 或NUTM1基因重排对 NUT 进行阳性染色通过遗传分析揭示的基因，例如荧光原位杂交 (FISH) 或下一代测序 (NGS)，是用于准确诊断的重要策略。在目前的研究中，我们介绍了一名 18 岁男性的 NC 病例，他的主诉是鼻塞、鼻出血和嗅觉丧失。磁共振成像显示鼻腔和鼻中隔中有肿块。初步病理诊断为基底样鳞状细胞癌。根据肿瘤位置和突然角化，进行进一步的基因检测，使用FISH诊断NC，并通过IHC进一步验证。然而，无论是基于 DNA 的 NGS 还是基于 RNA 的 NGS 都没有揭示NUTM1基因重排。以此案例为基础，我们回顾了相关文献，比较了NC的常用诊断方法，并讨论了当前用于基因融合分子分析的工具的优点和局限性。

关键词： NUTM1，NUT 中线癌，FISH，二代测序，基因重排