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适应性治疗策略:辅助放化疗用于治疗伴有颅内侵犯的复杂SMARCB1(INI-1)缺陷型鼻窦癌。

Adaptive Treatment Strategy: Adjuvant Chemoradiotherapy for a Complex SMARCB1 (INI-1)-Deficient Sinonasal Carcinoma With Intracranial Extension.

作者信息

Qayoumi Mansoor, Mushtaq Ayesha, Jansen Michael, O'Reilly Seamus, Jamaluddin Muhammad

机构信息

Internal Medicine, Cork University Hospital, Cork, IRL.

Radiation Oncology, Cork University Hospital, Cork, IRL.

出版信息

Cureus. 2025 Jan 10;17(1):e77217. doi: 10.7759/cureus.77217. eCollection 2025 Jan.

Abstract

SWI/SNF-related matrix-associated actin-dependent regulator of chromatin subfamily B member 1 (SMARCB1) (integrase interactor 1)-deficient sinonasal carcinoma (SDSNC) is a rare and aggressive malignancy of the head and neck. It is characterised by the absence of nuclear SMARCB1 expression and typically presents at advanced stages due to non-specific symptoms resembling benign conditions such as nasal polyps or sinusitis. This report describes a 64-year-old male who presented with a sphenoidal sinus mass causing bony erosion and intracranial extension, associated with headaches and diplopia. Initial management included endoscopic debulking surgery, followed by chemoradiotherapy to address residual disease in proximity to the optic chiasm and brainstem. Urgent radiotherapy was delivered using volumetric-modulated arc therapy, with a total dose of 66 Gy, requiring precise sparing of critical structures. Immunohistochemical analysis confirmed SMARCB1 deficiency. Post-treatment imaging revealed significant tumour volume reduction, and immune checkpoint inhibitor therapy was initiated for disease control. At five months post-treatment, the tumour remained stable. This case highlights the diagnostic and therapeutic challenges of SDSNC, particularly in cases involving critical anatomic structures. It demonstrates the importance of multidisciplinary treatment strategies, advanced radiotherapy planning, and immunotherapy in optimising outcomes for this rare malignancy.

摘要

与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)(整合酶相互作用因子1)缺陷型鼻窦癌(SDSNC)是一种罕见的头颈部侵袭性恶性肿瘤。其特征是缺乏核SMARCB1表达,由于类似鼻息肉或鼻窦炎等良性疾病的非特异性症状,通常在晚期出现。本报告描述了一名64岁男性,他出现蝶窦肿块,导致骨质侵蚀和颅内扩展,伴有头痛和复视。初始治疗包括内镜下减瘤手术,随后进行放化疗以处理视交叉和脑干附近的残留病灶。使用容积调强弧形放疗进行紧急放疗,总剂量为66 Gy,需要精确保护关键结构。免疫组织化学分析证实存在SMARCB1缺陷。治疗后影像学检查显示肿瘤体积显著缩小,并开始使用免疫检查点抑制剂治疗以控制疾病。治疗后五个月,肿瘤保持稳定。该病例突出了SDSNC的诊断和治疗挑战,特别是在涉及关键解剖结构的病例中。它证明了多学科治疗策略、先进的放疗计划和免疫疗法在优化这种罕见恶性肿瘤治疗结果方面的重要性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/269b/11807289/7061038d925f/cureus-0017-00000077217-i01.jpg

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