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咽旁间隙SWI/SNF相关基质相关肌动蛋白依赖的染色质调节因子亚家族B成员1(SMARCB1)缺陷型肿瘤:一例报告

SWI/SNF-Related Matrix-Associated Actin-Dependent Regulator of Chromatin Subfamily B Member 1 (SMARCB1)-Deficient Tumor in the Parapharyngeal Space: A Case Report.

作者信息

Kamimura Seiichiro, Kondo Eiji, Azuma Takahiro, Sato Go, Kitamura Yoshiaki

机构信息

Otolaryngology - Head and Neck Surgery, Tokushima University, Tokushima, JPN.

出版信息

Cureus. 2024 Sep 11;16(9):e69171. doi: 10.7759/cureus.69171. eCollection 2024 Sep.

Abstract

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) is a tumor suppressor gene, and SMARCB1 deficits have been associated with numerous malignant tumors. Carcinomas with a SMARCB1 deficit generally have a poor prognosis. In the head and neck region, there have been many recent cases of SMARCB1-deficient sinonasal carcinoma, but reports of extrasinonasal sites are extremely rare. This study reports a case of SMARCB1-deficient tumor in the right parapharyngeal space. A 64-year-old woman with right neck swelling was presented to our hospital, and imaging revealed a tumor in the right parapharyngeal space. After four years of follow-up, the tumor had increased in size, and a biopsy revealed deficits in SMARCB1 in the tumor cells. No definitive histological diagnoses were made. Radiation reduced the size of the tumor, and the patient survived without progression, three years after completion of treatment.

摘要

SWI/SNF相关的基质相关肌动蛋白依赖性染色质调节因子B亚家族成员1(SMARCB1)是一种肿瘤抑制基因,SMARCB1缺陷与多种恶性肿瘤相关。存在SMARCB1缺陷的癌通常预后较差。在头颈部区域,近期有许多SMARCB1缺陷型鼻窦癌的病例报道,但鼻窦外部位的报道极为罕见。本研究报告了1例右侧咽旁间隙SMARCB1缺陷型肿瘤。一名64岁右侧颈部肿胀的女性被送至我院,影像学检查显示右侧咽旁间隙有肿瘤。经过4年随访,肿瘤体积增大,活检显示肿瘤细胞中SMARCB1缺陷。未做出明确的组织学诊断。放疗使肿瘤体积缩小,患者在治疗结束3年后存活且无病情进展。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/a6a7/11468458/ae5f8cf6c144/cureus-0016-00000069171-i01.jpg

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