PDF(Pubmed)
Abstract：
SMARCB1 is a gene known to cause carcinogenesis in many soft tissue tumors, including malignant rhabdoid tumors and epithelioid sarcoma. Since the first report of a subtype of sinonasal carcinoma characterized by a deficiency of the SMARCB1 gene in 2014 to date, fewer than 200 cases have been reported. We report a case of SMARCB1-deficient sinonasal carcinoma with clear cell morphology. In our case, there are no evident basaloid or plasmacytoid/rhabdoid tumor cells, which are typical histopathological features of SMARCB1-deficient sinonasal carcinoma. SMARCB1-deficient sinonasal carcinoma is prone to recurrence and has a very poor prognosis. As the development of molecularly targeted agents progresses, therapeutic efficacy is expected to improve. Simultaneously, the importance of early and accurate diagnosis of SMARCB1-deficient sinonasal carcinoma will increase. With the limited information provided by biopsy specimens, it is necessary to confirm the loss of SMARCB1 expression by immunohistochemistry and investigate the presence of SMARCB1 gene deletion by molecular genetics, considering the possibility of SMARCB1-deficient sinonasal carcinoma even in atypical cases without basaloid or plasmacytoid/rhabdoid cell morphology, as in our case.
摘要：
SMARCB1是一种已知在许多软组织肿瘤中引起癌变的基因，包括恶性横纹肌样瘤和上皮样肉瘤。自从2014年首次报道以SMARCB1基因缺陷为特征的鼻窦癌亚型以来，报告的病例不到200例。我们报告了一例SMARCB1缺陷的鼻窦癌，具有透明细胞形态。在我们的案例中,没有明显的基底细胞样或浆细胞样/横纹肌样瘤细胞，这是SMARCB1缺陷型鼻腔鼻窦癌的典型组织病理学特征。缺乏SMARCB1的鼻窦癌易于复发，预后极差。随着分子靶向药物的发展，治疗效果有望提高。同时,SMARCB1缺陷型鼻窦炎早期准确诊断的重要性将增加.活检标本提供的信息有限，有必要通过免疫组织化学确认SMARCB1表达的缺失，并通过分子遗传学研究SMARCB1基因缺失的存在，考虑到SMARCB1缺陷性鼻腔鼻窦癌的可能性，即使在没有基底细胞样或浆细胞样/横纹肌样细胞形态的非典型病例中，就像我们的情况一样。
