Sedassari Bruno Tavares, Celin Marcelo Fonseca, Pigatti Fernanda Mombrini
Nove de Julho University, Department of Medical Sciences, General Pathology, São Paulo, São Paulo, Brazil; Municipal University of São Caetano do Sul, School of Medicine, Laboratory of Pathology, São Caetano do Sul, São Paulo, Brazil.
State Emergency Hospital, Oral and Maxillofacial Surgery, Vitória, Espírito Santo, Brazil.
Oral Oncol. 2025 Aug;167:107435. doi: 10.1016/j.oraloncology.2025.107435. Epub 2025 Jun 18.
SMARCB1-deficient sinonasal carcinoma is a rare sinonasal malignancy characterized by loss if INI1 expression on immunohistochemistry due to biallelic loss of SMARCB1 gene. Oral involvement is a an exceedingly unusual event. We present a 59-year-old woman with a destructive swelling covered by an ulcerated mucosa in the left posterior hard palate and alveolar ridge. Computed tomography scan demonstrated a tumor filling the left maxillary sinus with extension to the inferior nasal turbinate, alveolar process, and adjacent soft tissues. A biopsy performed from the oral aspect of the lesion revealed a basaloid tumor with rhabdoid/plasmacytoid cells, features that overlap with salivary-type carcinomas. Immunohistochemical analysis showed neoplastic cells positive to AE1/AE3 and p63, but negative to 34βE12, p16, chromogranin, synaptophysin, NUT, CD99, myogenin, smooth muscle actin, HMB45, S100 protein, androgen receptor, and TTF1. INI1 was also negative in neoplastic cells, but its expression was retained in stromal cells. The final diagnosis of SMARCB1-deficient sinonasal carcinoma was established. In conclusion, SMARCB1-deficient sinonasal carcinoma may infiltrate the oral cavity mimicking salivary-type carcinomas. A correlation of clinical, radiological, microscopical, and immunohistochemical aspects, the latter mainly represented by INI1 negativity, is mandatory to reach the appropriate diagnosis.
SMARCB1缺陷型鼻窦癌是一种罕见的鼻窦恶性肿瘤,其特征是由于SMARCB1基因的双等位基因缺失,免疫组化显示INI1表达缺失。口腔受累是极为罕见的情况。我们报告一名59岁女性,其左侧硬腭后部和牙槽嵴有一个溃疡性黏膜覆盖的破坏性肿胀。计算机断层扫描显示肿瘤充满左侧上颌窦,并延伸至下鼻甲、牙槽突和邻近软组织。从病变的口腔面进行活检,发现一个具有横纹肌样/浆细胞样细胞的基底样肿瘤,这些特征与涎腺型癌重叠。免疫组化分析显示肿瘤细胞对AE1/AE3和p63呈阳性,但对34βE12、p16、嗜铬粒蛋白、突触素、NUT、CD99、肌生成素、平滑肌肌动蛋白、HMB45、S100蛋白、雄激素受体和TTF1呈阴性。INI1在肿瘤细胞中也呈阴性,但其表达在基质细胞中保留。最终确诊为SMARCB1缺陷型鼻窦癌。总之,SMARCB1缺陷型鼻窦癌可能浸润口腔,酷似涎腺型癌。必须综合临床、放射学、显微镜和免疫组化等方面,后者主要以INI1阴性为代表,才能做出准确诊断。