背景:睾丸核蛋白(NUT)癌是一种罕见的侵袭性恶性上皮细胞肿瘤,以前称为NUT中线癌(NMC),其特征在于染色体15q14上编码NUT的基因的获得性重排。由于缺乏特征性的病理特征,它经常被低估和误诊。可以使用多种方法来诊断NMC,包括免疫组织化学,核型分析,荧光原位杂交,逆转录聚合酶链反应,和下一代测序。到目前为止,NMC无标准治疗方案,预后较差,与它的快速发展有关,容易复发,和不满意的治疗结果。
方法:1名58岁女性因眼睛肿痛主诉8d来我院就诊,经术后病理及基因检测证实诊断为NMC。病人出现恶心和呕吐,头痛,手术后双眼失明。术后1.5mo后进行磁共振成像(MRI)和正电子发射断层扫描/计算机断层扫描(PET/CT)提示肿瘤复发。患者在接受一定程度的放射治疗后以及使用抗血管生成药物和声动力治疗(SDT)的初始治疗后获得缓解,但不能实现长期稳定并最终发展为远处转移,总生存期只有17个月.
结论:对于快速进展的鼻窦肿瘤和对初始治疗反应差的患者,应考虑NMC的可能性,并应尽快进行抗NUT的免疫组织化学染色,如有必要,结合基因检测。CT,MRI,PET/CT成像对分期至关重要,管理,治疗反应评估和NMC监测。该病例是首次尝试在NMC的治疗中应用热疗和SDT,不幸的是,预后仍然较差。
BACKGROUND: Nuclear protein in testis (NUT) carcinoma is a rare aggressive malignant epithelial cell tumor, previously known as NUT midline carcinoma (NMC), characterized by an acquired rearrangement of the gene encoding NUT on chromosome 15q14. Due to the lack of characteristic pathological features, it is often underdiagnosed and misdiagnosed. A variety of methods can be used to diagnose NMC, including immunohistochemistry, karyotyping, fluorescence in situ hybridization, reverse transcription-polymerase chain reaction, and next-generation sequencing. So far, there is no standard treatment plan for NMC and the prognosis is poor, related to its rapid progression, easy recurrence, and unsatisfactory treatment outcome.
METHODS: A 58-year-old female came to our hospital with a complaint of eye swelling and pain for 8 d. The diagnosis of NMC was confirmed after postoperative pathology and genetic testing. The patient developed nausea and vomiting, headache, and loss of vision in both eyes to blindness after surgery. Magnetic resonance imaging (MRI) and positron emission tomography/computed tomography (PET/CT) performed after 1.5 mo postoperatively suggested tumor recurrence. The patient obtained remission after radiation therapy to some extent and after initial treatment with anti-angiogenic drugs and sonodynamic therapy (SDT), but cannot achieve long-term stability and eventually developed distant metastases, with an overall survival of only 17 mo.
CONCLUSIONS: For patients with rapidly progressing sinus tumors and poor response to initial treatment, the possibility of NMC should be considered and immunohistochemical staining with anti-NUT should be performed as soon as possible, combined with genetic testing if necessary. CT, MRI, and PET/CT imaging are essential for the staging, management, treatment response assessment and monitoring of NMC. This
case is the first attempt to apply heat therapy and SDT in the treatment of NMC, unfortunately, the prognosis remained poor.