Elkhatib Safwan K, Neilsen Beth K, Sleightholm Richard L, Baine Michael J, Zhen Weining
Department of Radiation Oncology, 986861 Nebraska Medical Center, University of Nebraska Medical Center, Omaha, NE, 68198-686, USA.
J Med Case Rep. 2019 Mar 11;13(1):57. doi: 10.1186/s13256-019-2015-x.
Nuclear protein in testis midline carcinoma is a rare, highly metastatic undifferentiated carcinoma that typically arises in midline structures and is characterized by having a fusion involving the nuclear protein in testis, NUT, gene. Nuclear protein in testis midline carcinoma has been identified in patients of all ages and is often initially misdiagnosed due to the rapid timeline of symptom onset.
Here we report the case of a 47-year-old Caucasian woman with a nuclear protein in testis midline carcinoma that was initially mistaken for a sinus infection. After symptom progression while on an aggressive antibiotic regimen, the source of her symptoms was correctly identified as a sella mass. Comprehensive analysis of the tumor was performed, and standard cytogenetic analysis identified a translocation of 15q and 19p. Further testing identified a NUT-BRD4 fusion and confirmed the diagnosis of nuclear protein in testis midline carcinoma. Despite definitive diagnosis and surgical, radiation, and, ultimately, systemic therapy, she progressed rapidly, developing widespread metastases, and ultimately died from the disease 5 months after diagnosis.
Based on this and other previous reports, aggressive therapy should be initiated once nuclear protein in testis midline carcinoma is diagnosed and close surveillance employed in an attempt to prevent and/or recognize metastases as early as possible. Aggressive therapy has shown little efficacy such that the average overall survival for patients with nuclear protein in testis midline carcinoma is very short, often less than 6 months. Thus, early enrollment into clinical trials testing novel therapies for the treatment of nuclear protein in testis midline carcinoma should be considered. Finally, additional reports of nuclear protein in testis midline carcinoma are needed to fully characterize this rare and highly aggressive cancer.
睾丸中线核蛋白癌是一种罕见的、具有高度转移性的未分化癌，通常发生于中线结构，其特征是存在涉及睾丸核蛋白（NUT）基因的融合。睾丸中线核蛋白癌在各年龄段患者中均有发现，且由于症状出现迅速，常常在初始阶段被误诊。
在此，我们报告一例47岁的白种女性，患有睾丸中线核蛋白癌，最初被误诊为鼻窦感染。在积极使用抗生素治疗期间症状仍进展，其症状来源被正确诊断为蝶鞍区肿块。对肿瘤进行了全面分析，标准细胞遗传学分析发现15号染色体长臂（15q）和19号染色体短臂（19p）发生易位。进一步检测发现NUT - BRD4融合，从而确诊为睾丸中线核蛋白癌。尽管确诊后接受了手术、放疗，最终还进行了全身治疗，但她病情迅速进展，出现广泛转移，最终在诊断后5个月死于该疾病。
基于本病例及其他既往报告，一旦诊断为睾丸中线核蛋白癌，应立即开始积极治疗，并进行密切监测，以尽早预防和/或识别转移。积极治疗显示疗效甚微，睾丸中线核蛋白癌患者的平均总生存期很短，通常不足6个月。因此，应考虑尽早让患者参加针对睾丸中线核蛋白癌新型治疗方法的临床试验。最后，需要更多睾丸中线核蛋白癌的报告来全面描述这种罕见且侵袭性强的癌症。
