PDF(Pubmed)
Abstract：
NUT carcinoma is an aggressive, poorly differentiated squamous cell carcinoma, defined by rearrangement of the NUTM1 (Nuclear Protein in Testis) gene. Diagnosis is challenging due to histologic similarities with other poorly differentiated tumors requiring advanced diagnostic techniques. There is no established treatment, and prognosis remains extremely poor. A 27-year-old woman without known medical history presented with a rapidly enlarging neck mass and compressive symptoms. Chemotherapy for presumed squamous cell carcinoma with a component of anaplastic thyroid cancer based on pathology was initiated. Next-generation sequencing revealed thyroid NUT carcinoma with high PD-L1 expression, prompting PD-1 targeted therapy. The patient expired shortly afterwards from progressive disease. NUT carcinoma of thyroid origin is an extremely rare disease. This case brings awareness to the disease, highlights the importance of advanced diagnostic techniques and complexities in managing patients with NUT carcinoma.
摘要：
NUT癌是一种侵袭性的，低分化鳞状细胞癌，由NUTM1（睾丸中的核蛋白）基因的重排定义。由于与需要先进诊断技术的其他低分化肿瘤的组织学相似性，诊断具有挑战性。没有既定的治疗方法，预后仍然极差。一名没有已知病史的27岁女性，表现为颈部肿块迅速扩大和压迫症状。开始对基于病理学的假定的鳞状细胞癌进行化疗，其中包括甲状腺未分化癌。下一代测序显示甲状腺NUT癌PD-L1高表达，提示PD-1靶向治疗。此后不久，患者因进行性疾病而死亡。甲状腺起源的NUT癌是一种极其罕见的疾病。这种情况带来了对这种疾病的认识，强调了先进的诊断技术和复杂性在NUT癌患者管理中的重要性。
