PDF(Pubmed)
Abstract：
BACKGROUND SMARCB1-deficient sinonasal carcinoma is a rare neoplasm with inactivation of the SWI/SNF complex, with an aggressive clinical course as most of the lesions present as advanced in pT3/T4 stages with frequent recurrence, and many patients succumb to the disease. Reported initially in 2014, the lesion has male predominance, with an age range of 19 to 89 years and predilection for the ethmoid sinus and nasal cavity. Histopathological findings show a proliferation of small- to medium-sized monomorphic basaloid cells with indistinctive cytoplasmic borders and round variably prominent nuclei with scattered cells that show rhabdoid morphology. Cytoplasmic vacuoles are common. It has similar morphological findings to a wide array of neoplasms in the sinonasal area. CASE REPORT We report a case of SMARCB1-deficient sinonasal carcinoma in a 30-year-old man referred to our hospital with a preliminary diagnosis of sinonasal adenocarcinoma, intestinal type. Computed tomography showed a huge destructive soft tissue mass in the left maxillary sinus, extended to involve the left nasal cavity with extension to the skull base and perineural spread along the foramen rotundum. Histological examination revealed a malignant basaloid neoplasm embedded in a myxoid stroma that showed loss of SMARCB1 stain. The patient was treated with induction chemotherapy using etoposide and cisplatin for disease control. CONCLUSIONS SMARCB1-deficient sinonasal carcinoma is a rare neoplasm with an aggressive clinical course and high-grade behavior despite having uniform cytological features. This poses complex diagnoses, especially in small biopsies. Incorporating morphological findings with ancillary tests is required to identify this high-grade malignancy.
摘要：
背景SMARCB1缺陷型鼻腔鼻窦癌是一种罕见的肿瘤，具有SWI/SNF复合物失活，具有侵袭性的临床过程，因为大多数病变存在于pT3/T4期晚期并经常复发，许多病人死于这种疾病。最初于2014年报道，病变以男性为主，年龄在19至89岁之间，适合筛窦和鼻腔。组织病理学发现显示，中小型单形基底细胞增殖，具有不明显的细胞质边界和圆形可变突出的细胞核，分散的细胞显示横纹肌形态。细胞质液泡是常见的。它与鼻窦区域的各种肿瘤具有相似的形态学发现。病例报告我们报告了一例SMARCB1缺乏的鼻窦癌，一名30岁的男子转诊至我们医院，初步诊断为鼻窦腺癌，肠型。计算机断层扫描显示左侧上颌窦有一个巨大的破坏性软组织肿块，延伸到左侧鼻腔，并延伸到颅底，并沿圆孔周围扩散。组织学检查显示，恶性基底细胞样肿瘤嵌入粘液样基质中，显示SMARCB1染色丧失。患者使用依托泊苷和顺铂进行诱导化疗以控制疾病。结论SMARCB1缺陷型鼻腔鼻窦癌是一种罕见的肿瘤，尽管具有统一的细胞学特征，但具有侵袭性的临床病程和高级别行为。这会带来复杂的诊断，尤其是小活检。需要将形态学发现与辅助测试相结合来识别这种高级恶性肿瘤。
