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SMARCB1 缺陷型鼻窦癌:一例病例报告及文献综述

SMARCB1-deficient sinonasal carcinoma: a case report and literature review.

作者信息

Yanagawa Naoki, Suzuki Masamichi, Sugimoto Ryo, Osakabe Mitsumasa, Uesugi Noriyuki, Shiga Kiyoto, Sugai Tamotsu

机构信息

Departments of Molecular Diagnostic Pathology, Yahaba-cho, Shiwa-gun, Iwate, Japan.

Head and Neck Surgert, Iwate Medical University, Yahaba-cho, Shiwa-gun, Iwate, Japan.

出版信息

J Surg Case Rep. 2021 Apr 30;2021(4):rjab161. doi: 10.1093/jscr/rjab161. eCollection 2021 Apr.

Abstract

SWItch/Sucrose Non-Fermentable (SWI/SNF) -related matrix-associated actin-dependent regulator of chromatin (SMARC) subfamily B member 1 (SMARCB1) deficient sinonasal carcinoma (SdSNC) is a rare variant of sinonasal undifferentiated carcinoma (SNUC). A 72-year-old man was referred to our hospital with complaints of left facial pain and nasal obstruction. Computed tomography (CI) revealed a tumor 5.5 cm in size in the left nasal cavity. Atypical cells with eosinophilic cytoplasm proliferating as solid nests and exhibiting necrosis were observed and diagnosed as poorly differentiated carcinoma. Carbon ion radiotherapy was performed. Follow-up CI revealed multiple masses in both lungs. Partial resection of the right lung was performed. Proliferating atypical cells with clear-to-eosinophilic cytoplasm were observed and resembled those in the paranasal sinus tumor. Immunohistochemical analysis indicated a metastatic lung tumor derived from the SNUC revealed completely negative SMARCB1 expression in the nuclei of the tumor cells. SdSNC is difficult to diagnose. However, molecular targeted therapy may be useful. Thus, it is necessary and important to recognize this rare cancer accurately.

摘要

与SWItch/蔗糖非发酵(SWI/SNF)相关的基质相关肌动蛋白依赖性染色质调节因子(SMARC)亚家族B成员1(SMARCB1)缺陷型鼻窦癌(SdSNC)是鼻窦未分化癌(SNUC)的一种罕见变体。一名72岁男性因左侧面部疼痛和鼻塞前来我院就诊。计算机断层扫描(CI)显示左侧鼻腔有一个大小为5.5厘米的肿瘤。观察到具有嗜酸性细胞质的非典型细胞呈实性巢状增殖并伴有坏死,诊断为低分化癌。进行了碳离子放疗。随访CI显示双肺有多个肿块。对右肺进行了部分切除。观察到具有透明至嗜酸性细胞质的增殖性非典型细胞,与鼻窦肿瘤中的细胞相似。免疫组织化学分析表明,源自SNUC的转移性肺肿瘤在肿瘤细胞核中显示SMARCB1表达完全阴性。SdSNC难以诊断。然而,分子靶向治疗可能有用。因此,准确识别这种罕见癌症是必要且重要的。

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