伴有口腔病变的smarcb1缺陷鼻窦癌:一种潜在的唾液型癌模仿者

IF 4 2区 医学 Q1 DENTISTRY, ORAL SURGERY & MEDICINE
Bruno Tavares Sedassari , Marcelo Fonseca Celin , Fernanda Mombrini Pigatti
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引用次数: 0

摘要

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基因双等位基因缺失而导致免疫组织化学上INI1表达缺失。口腔介入是一种非常罕见的事件。我们报告一位59岁的女性,她的左后硬腭和牙槽嵴有破坏性的肿胀,并被溃疡粘膜覆盖。计算机断层扫描显示肿瘤填充左侧上颌窦并延伸至下鼻甲、牙槽突和邻近软组织。口腔活检显示基底样肿瘤伴横纹肌样/浆细胞样细胞,特征与唾液型癌重叠。免疫组化分析显示,肿瘤细胞对AE1/AE3和p63表达阳性,而对34βE12、p16、嗜铬粒蛋白、突触素、NUT、CD99、肌原素、平滑肌肌动蛋白、HMB45、S100蛋白、雄激素受体和TTF1表达阴性。INI1在肿瘤细胞中也呈阴性,但在基质细胞中仍有表达。最终确定smarcb1缺陷鼻窦癌的诊断。综上所述,smarcb1缺失型鼻窦癌可能会像唾液型癌一样浸润口腔。临床、放射学、显微镜和免疫组织化学方面的相关性,后者主要以INI1阴性为代表,是达到适当诊断的必要条件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
SMARCB1-deficient sinonasal carcinoma with oral involvement: A potential mimicker of salivary-type carcinomas
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.
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来源期刊
Oral oncology
Oral oncology 医学-牙科与口腔外科
CiteScore
8.70
自引率
10.40%
发文量
505
审稿时长
20 days
期刊介绍: Oral Oncology is an international interdisciplinary journal which publishes high quality original research, clinical trials and review articles, editorials, and commentaries relating to the etiopathogenesis, epidemiology, prevention, clinical features, diagnosis, treatment and management of patients with neoplasms in the head and neck. Oral Oncology is of interest to head and neck surgeons, radiation and medical oncologists, maxillo-facial surgeons, oto-rhino-laryngologists, plastic surgeons, pathologists, scientists, oral medical specialists, special care dentists, dental care professionals, general dental practitioners, public health physicians, palliative care physicians, nurses, radiologists, radiographers, dieticians, occupational therapists, speech and language therapists, nutritionists, clinical and health psychologists and counselors, professionals in end of life care, as well as others interested in these fields.
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