目的:睾丸(NUT)癌中的核蛋白在15号染色体上以NUT基因重排为特征。这项研究的目的是探讨临床特征,免疫组织化学,治疗,鼻窦NUT癌的诊断和预后。
方法:回顾性分析10例经病理证实的NUT癌的临床资料。并对相关文献进行了综述。
结果:在10例患者中,6个是男性,还有4个是女性。中位年龄为34岁(15-69岁)。9例患者出现局部晚期cT4a期。最常见的治疗方法是完全切除联合放疗,化疗,和靶向治疗。10例患者病理均为低分化或未分化癌。此外,免疫组化染色显示NUT蛋白在所有10例患者中呈阳性,大多数病例表达p63、p40和CK。8例患者的Ki-67阳性指数为40-80%,中位数为50%,其余病例均通过FISH检测到NUTM1基因破坏。截至4月,2023年,所有患者随访1-51个月,中位随访时间为14个月。三名患者死于广泛的全身转移,3复发,4例无复发或转移。
结论:鼻窦NC(NUT癌)是一种罕见且高度侵袭性的恶性肿瘤,进展迅速,预后不良。正确的组织病理学诊断是确定适当治疗的首要前提。目前尚无有效的治疗方案。靶向治疗可能成为治疗NCs的有效方法。
OBJECTIVE: Nuclear protein in testis (NUT) carcinoma is characterized by NUT gene rearrangement on chromosome 15. The objective of this study was to investigate the clinical features, immunohistochemistry, treatment, diagnosis and prognosis of sinonasal NUT carcinoma specifically.
METHODS: Clinical data for 10 cases of NUT cancer confirmed by pathology were retrospectively analyzed, and the relevant literature was reviewed.
RESULTS: Among the 10 patients, 6 were males, and 4 were females. The median age was 34 years (15-69 years). Nine patients presented with locally advanced cT4a stage. The most common treatment was complete resection combined with radiotherapy, chemotherapy, and targeted therapy. All 10 patients had pathologically poorly differentiated or undifferentiated carcinoma. Furthermore, immunohistochemical staining showed that NUT protein was positive in all 10 patients, and most cases expressed p63, p40 and CK. The Ki-67 positive index of 8 patients ranged from 40 to 80%, with a median of 50%, and NUTM1 gene disruption was detected in both of the remaining cases by FISH. As of April, 2023, all patients were followed up with for 1-51 months, with a median follow-up time of 14 months. Three patients died due to widespread systemic metastasis, 3 relapsed, and 4 had no recurrence or metastasis.
CONCLUSIONS: Sinonasal NCs (NUT carcinomas) is a rare and highly aggressive malignant tumor with rapid progression and a poor prognosis. Correct histopathological diagnosis is the primary prerequisite for determining appropriate treatment. There are currently no effective treatment options for NCs. Targeted therapy may become an effective method to treat NCs.