SMARCB1（INI-1）缺陷型鼻窦癌：两例报告

SMARCB1 (INI-1) - Deficient sinonasal carcinoma: Report of two cases.

作者信息

Vasudevan Geetha, Srinivas Srilatha Parampalli, Nayal Bhavna, Jayaprakash Padmapriya, Ramaswamy Balakrishnan

机构信息

Department of Pathology, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

Department of Otorhinolaryngology, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India.

出版信息

Indian J Pathol Microbiol. 2023 Apr-Jun;66(2):352-355. doi: 10.4103/ijpm.ijpm_313_21.

DOI:10.4103/ijpm.ijpm_313_21

PMID:37077082

Abstract

SMARCB1 (INI-1)-deficient sinonasal carcinoma is a rare, poorly differentiated carcinoma defined by complete loss of tumor suppressor gene SMARCB1 (INI-1) within the neoplastic cell nuclei demonstrated by the immunohistochemical stain. SMARCB1 (INI-1) gene inactivation has been implicated in the pathogenesis of a diverse group of malignant neoplasms that tend to share "rhabdoid" morphology. SMARCB1 (INI-1)-deficient sinonasal carcinoma was first reported by Agaimy et al. in 2014. These tumors are often basaloid with focal rhabdoid differentiation, prominent necrosis, increased mitotic activity, and aggressive behavior. Other than being INI-1 and NUT negative, they are positive for pancytokeratin and express variable immunoreactivity for squamous markers like p63 and neuroendocrine markers like synaptophysin. Most patients present with locally advanced disease and hence a combination of chemotherapy, radiotherapy, and surgery is usually recommended.

摘要

SMARCB1（INI-1）缺陷型鼻窦癌是一种罕见的低分化癌，其定义为免疫组化染色显示肿瘤细胞核内肿瘤抑制基因SMARCB1（INI-1）完全缺失。SMARCB1（INI-1）基因失活与多种具有“横纹肌样”形态的恶性肿瘤的发病机制有关。SMARCB1（INI-1）缺陷型鼻窦癌最早由阿盖米等人于2014年报道。这些肿瘤通常呈基底样，伴有局灶性横纹肌样分化、显著坏死、有丝分裂活性增加及侵袭性行为。除INI-1和NUT阴性外，它们对全细胞角蛋白呈阳性，对鳞状标记物如p63和神经内分泌标记物如突触素表达可变的免疫反应性。大多数患者就诊时已处于局部晚期疾病状态，因此通常建议采用化疗、放疗和手术相结合的治疗方法。