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SMARCB1(INI-1)缺陷型鼻窦癌:一例报告及文献综述

SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma: A Case Report and Literature Review.

作者信息

Yang Huiwen, Zhou Liuqing, Zhong Gang, Li Xiangxiang, Wang Yanjun

机构信息

Department of Otorhinolaryngology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

Department of Pathology, Union Hospital, Tongji Medical College, Huazhong University of Science and Technology, Wuhan, China.

出版信息

Ear Nose Throat J. 2025 Mar;104(3):NP154-NP158. doi: 10.1177/01455613221082622. Epub 2022 May 21.

Abstract

SWItch/Sucrose Non-Fermentable related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1)-deficient sinonasal carcinoma (SDSC) is a malignant tumor classified as sinonasal undifferentiated carcinoma (SNUC). Owing to the high aggressiveness and poor prognosis reported in recent literature, patients diagnosed with SNUC should consider further immunohistochemical examination to screen for SDSC. Timely diagnosis is critical and will contribute to follow-up targeted therapy and improved patient prognosis. Case report. A case of SDSC with a history of chronic sinusitis with nasal polyps (CRSwNP). We collected all the clinical data of this patient. The patient underwent planned functional endoscopic sinus surgery (FESS) and received chemotherapy combined with immunotherapy postoperatively. There was no evidence of recurrence or metastasis at the 3-month follow-up. The patient in this case presented with right intermittent epistaxis, and surgical histopathological examination confirmed a diagnosis of right SDSC and left CRSwNP. No related research has been reported.

摘要

SWItch/蔗糖非发酵相关基质相关肌动蛋白依赖性染色质调节因子亚家族B成员1(SMARCB1)缺陷型鼻窦癌(SDSC)是一种归类为鼻窦未分化癌(SNUC)的恶性肿瘤。鉴于近期文献报道其具有高度侵袭性和不良预后,被诊断为SNUC的患者应考虑进一步进行免疫组化检查以筛查SDSC。及时诊断至关重要,这将有助于后续的靶向治疗并改善患者预后。病例报告。1例有慢性鼻窦炎伴鼻息肉(CRSwNP)病史的SDSC患者。我们收集了该患者的所有临床资料。患者接受了计划性功能性鼻内镜鼻窦手术(FESS),术后接受了化疗联合免疫治疗。在3个月的随访中没有复发或转移的证据。该病例患者表现为右侧间歇性鼻出血,手术组织病理学检查确诊为右侧SDSC和左侧CRSwNP。尚无相关研究报道。

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