■睾丸(NUT)癌(NC)中的核蛋白是一种罕见的,高度侵袭性肿瘤,通常伴有NUTM1(NUT中线癌家族成员1)基因融合。原发性甲状腺NC在临床上是罕见的,并且迄今为止还没有可用于NC的既定治疗指南。我们报告1例经组织病理学证实的甲状腺NC,为诊断和治疗提供参考。
我们介绍了一名32岁的女性,她因“颈部疼痛肿胀和进行性吞咽困难”入院。术前超声引导芯针穿刺活检提示肿瘤分化差。考虑到计算机断层扫描(CT)扫描时肿瘤完全未切除,我们进行了甲状腺部分切除术,以获得足够的组织以明确诊断.组织病理学标本显示突发性角化病的特征。通过免疫组织化学(IHC)检测到与NUT的强免疫反应性,从而证实了NC的诊断。CK5/6、P40和P63仅在角化病区部分呈阳性。下一代测序(NGS)和RNA测序结果揭示了NSD3-NUTM1融合。患者接受了70Gy的联合放疗方案治疗,紫杉醇化疗(白蛋白结合),nivolumab免疫疗法,使用安洛替尼和BET抑制剂NHWD-870进行靶向治疗,但患者在诊断后7个月死亡。
■甲状腺NC是NUT癌的一种罕见且独特的病理子集,具有较高的NSD3-NUTM1融合率。在临床诊断过程中,我们建议对低分化甲状腺肿瘤进行NUTIHC.基因重排检测也有助于诊断和治疗。目前,手术和放疗仍然是NC的首选,和靶向免疫治疗的进展,如布罗莫结构域和末端基序抑制剂(BETi)可能会给患者带来更好的治疗选择。
UNASSIGNED: Nuclear protein in testis (NUT) carcinoma (NC) is a rare, highly aggressive neoplasm, usually accompanying with NUTM1 (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.
UNASSIGNED: 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 NSD3-NUTM1 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.
UNASSIGNED: Thyroid NC is a rare and distinct pathological subset of NUT carcinoma with a higher rate of NSD3-NUTM1 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.