Cao Jie, Liu Yuanjun, Lu Cheng
Department of Otorhinolaryngology, Head and Neck Surgery, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
Department of Otorhinolaryngology, Head and Neck Surgery, Beijing Anzhen Hospital, Capital Medical University, Beijing, China.
Gland Surg. 2024 Jun 30;13(6):1116-1125. doi: 10.21037/gs-24-77. Epub 2024 Jun 24.
Nuclear protein in testis (NUT) carcinoma (NC) is a rare, highly aggressive neoplasm, usually accompanying with (NUT midline carcinoma family member 1) gene fusions. Primary thyroid NC is clinically rare and to date there is no established treatment guideline available for NC. We report a case of histopathologically confirmed thyroid NC and provide reference for diagnosis and treatment.
We presented a 32-year-old female admitted to hospital with "painful neck swelling and progressive dysphagia". Preoperative ultrasound-guided core needle aspiration biopsy suggested a poorly differentiated tumor. Considering the tumor was totally unresected on computed tomography (CT) scan, a partial thyroidectomy was performed to obtain sufficient tissue for a clear diagnosis. Histopathological specimens showed features of sudden keratosis. Strong immunoreactivity with NUT was detected by immunohistochemistry (IHC) and thus confirmed the diagnosis of NC. CK5/6, P40 and P63 were partially positive exclusively in keratosis area. Next-generation sequencing (NGS) and RNA sequencing results revealed a fusion. The patient was treated with a combined regimen of radiotherapy of 70 Gy, chemotherapy with paclitaxel (albumin-bound), immunotherapy with nivolumab, targeted therapy with anlotinib and BET inhibitor NHWD-870, but the patient died 7 months after diagnosis.
Thyroid NC is a rare and distinct pathological subset of NUT carcinoma with a higher rate of fusion. In the clinical diagnosis process, we recommended performing NUT IHC for poorly differentiated thyroid tumors. Gene rearrangement detection is also helpful for diagnosis and treatment. At present, surgery and radiation are still first choices for NC, and advances in targeted immunotherapy such as bromodomain and end motif inhibitors (BETi) may bring better treatment options to patients.
睾丸核蛋白（NUT）癌（NC）是一种罕见的、侵袭性很强的肿瘤，通常伴有（NUT中线癌家族成员1）基因融合。原发性甲状腺NC在临床上很罕见，迄今为止尚无针对NC的既定治疗指南。我们报告一例经组织病理学确诊的甲状腺NC病例，为诊断和治疗提供参考。
我们介绍了一名32岁女性，因“颈部疼痛性肿胀和进行性吞咽困难”入院。术前超声引导下的粗针穿刺活检提示为低分化肿瘤。考虑到肿瘤在计算机断层扫描（CT）上完全无法切除，遂行甲状腺部分切除术以获取足够组织进行明确诊断。组织病理学标本显示有突然角化的特征。免疫组织化学（IHC）检测到与NUT有强免疫反应，从而确诊为NC。CK5/6、P40和P63仅在角化区域部分呈阳性。二代测序（NGS）和RNA测序结果显示一种融合。该患者接受了70 Gy的放疗、白蛋白结合型紫杉醇化疗、纳武单抗免疫治疗、安罗替尼靶向治疗和BET抑制剂NHWD-870联合治疗，但患者在诊断后7个月死亡。
甲状腺NC是NUT癌中一种罕见且独特的病理亚型，融合率较高。在临床诊断过程中，我们建议对低分化甲状腺肿瘤进行NUT IHC检测。基因重排检测对诊断和治疗也有帮助。目前，手术和放疗仍是NC的首选，靶向免疫治疗如溴结构域和末端基序抑制剂（BETi）的进展可能为患者带来更好的治疗选择。
