Trieu Vanessa, Aulet Ricardo Mario, Ciolino Allison, Rimash Tamara
1 Larner College of Medicine at the University of Vermont, Burlington, VT, USA.
2 Division of Otolaryngology, University of Vermont Medical Center, Burlington, VT, USA.
Ann Otol Rhinol Laryngol. 2019 Jul;128(7):676-680. doi: 10.1177/0003489419836668. Epub 2019 Mar 15.
SMARCB1-deficient sinonasal tract carcinomas are an emerging subset of rare tumors recently described in the literature, with less than 100 reported cases. Given the aggressive nature of this tumor, timely diagnosis is especially important. We present a case report of a SMARCB1-deficient carcinoma of the sinonasal tract.
Case report with review of the literature.
The patient was a 53-year-old male with computed tomography (CT)-proven mass of the right ethmoid and sphenoid sinuses. Rigid nasal endoscopy revealed a purple mass completely obstructing the right nasal cavity that extended inferiorly from the posterior ethmoids and sphenoid sinuses. Initial biopsy in the emergency room was nondiagnostic due to extensive tumor necrosis. Magnetic resonance imaging (MRI) revealed T2 hypointense enhancing mass centered in the right posterior ethmoids with invasion into the right orbital apex, classifying it as a T4b tumor. The patient underwent repeat biopsy with frozen section and tumor debulking. Immunohistochemical analysis of subsequent biopsy revealed complete loss of INI-1 and negative staining for other pertinent markers, alluding to the diagnosis of SMARCB1-deficient sinonasal tract carcinoma.
Tumor necrosis may be problematic in obtaining a diagnosis for SMARCB1-deficient sinonasal carcinomas. Thus, sampling various regions of the tumor during initial biopsy can prevent delays in diagnosis and treatment.
SMARCB1 缺陷型鼻窦癌是文献中最近描述的一种罕见肿瘤的新兴亚型，报告病例少于 100 例。鉴于该肿瘤的侵袭性，及时诊断尤为重要。我们报告一例 SMARCB1 缺陷型鼻窦癌病例。
病例报告并复习文献。
患者为 53 岁男性，计算机断层扫描（CT）证实右侧筛窦和蝶窦有肿物。硬性鼻内镜检查发现一个紫色肿物完全阻塞右侧鼻腔，该肿物从后筛窦和蝶窦向下延伸。由于肿瘤广泛坏死，急诊室的初次活检未能明确诊断。磁共振成像（MRI）显示 T2 低信号强化肿物，位于右侧后筛窦，侵犯右侧眶尖，将其分类为 T4b 期肿瘤。患者接受了冰冻切片重复活检及肿瘤减瘤手术。后续活检的免疫组织化学分析显示 INI-1 完全缺失，其他相关标志物染色阴性，提示诊断为 SMARCB1 缺陷型鼻窦癌。
肿瘤坏死可能会给 SMARCB1 缺陷型鼻窦癌的诊断带来问题。因此，初次活检时对肿瘤的不同区域进行取材可避免诊断和治疗的延误。
