Kato Taketo, Oyamatsu Hironori, Hanamatsu Yuki, Huang Heng, Okado Shoji, Imamura Yoshito, Nomata Yuji, Watanabe Hiroki, Kadomatsu Yuka, Ueno Harushi, Nakamura Shota, Mizuno Tetsuya, Hase Tetsunari, Takeuchi Tamotsu, Chen-Yoshikawa Toyofumi Fengshi
Department of Thoracic Surgery, Nagoya University Graduate School of Medicine, Nagoya, Japan.
Department of Thoracic Surgery, Okazaki City Hospital, Aichi, Japan.
Transl Lung Cancer Res. 2024 Jul 30;13(7):1756-1762. doi: 10.21037/tlcr-24-259. Epub 2024 Jul 11.
Nuclear protein in testis (NUT) carcinoma (NC) of the lung is a rare cancer that occurs mainly in young adolescents and adults. NC is genetically characterized by rearrangements, which usually take the form of fusions. The prognosis for NC is dismal, and treatment with conventional chemotherapeutic regimens is ineffective.
We herein describe the case of a 53-year-old woman with recurrent NC of the lung 14 years after surgery for nasal cavity cancer. Chest computed tomography revealed a 5.5-cm tumor in the lower lobe of the left lung. We completely resected the recurrent lung NC via thoracotomy. Immunohistochemistry (IHC) of the lung and nasal cavity cancers showed diffuse strong expression of NUT. RNA-seq of the lung NC revealed rearrangement, with a fusion of exon 10 to exon 4. This breakpoint has never been reported before. In addition, IHC revealed elevated expression of parathyroid hormone-like hormone in the lung NC but not in the nasal cavity NC, indicating that the lung and nasal cavity NCs were metachronous multiple primary cancers.
We experienced a rare recurrence of lung NC 14 years after the initial surgery. The fusion consisted of a new breakpoint. Furthermore, the expression pattern of parathyroid hormone-like hormone () suggested that the NCs in the nasal cavity and lung may be metachronous multiple lung cancers. This extremely rare case highlighted the possibility of identifying less malignant NCs in patients with poorly differentiated tumors via fusion gene analysis and the need to develop more effective treatment strategies for this malignancy.
肺睾丸核蛋白（NUT）癌（NC）是一种罕见的癌症，主要发生于青少年和成年人。NC在基因上的特征是重排，通常表现为融合形式。NC的预后很差，常规化疗方案治疗无效。
我们在此描述一名53岁女性的病例，该患者在鼻腔癌手术后14年出现复发性肺NC。胸部计算机断层扫描显示左肺下叶有一个5.5厘米的肿瘤。我们通过开胸手术完全切除了复发性肺NC。对肺癌和鼻腔癌进行免疫组织化学（IHC）检测，结果显示NUT呈弥漫性强表达。对肺NC进行RNA测序，结果显示存在重排，外显子10与外显子4融合。这个断点此前从未有过报道。此外，IHC检测显示肺NC中甲状旁腺激素样激素表达升高，而鼻腔NC中未升高，这表明肺和鼻腔NC是异时性多原发性癌症。
我们遇到了一例在初次手术后14年出现的罕见的肺NC复发病例。这种融合包含一个新的断点。此外，甲状旁腺激素样激素（）的表达模式表明鼻腔和肺部的NC可能是异时性多原发性肺癌。这一极其罕见的病例凸显了通过融合基因分析在低分化肿瘤患者中识别恶性程度较低的NC的可能性，以及为这种恶性肿瘤开发更有效治疗策略的必要性。
