原发蝶窦的SMARCB1/INI-1缺失癌一例

SMARCB1/INI-1-deficient carcinoma primarily arising in the sphenoid sinus: a case report

摘要:

本文回顾性分析1例原发于蝶窦的SDSC患者的临床资料,探讨原发于蝶窦SMARCB1/INI-1缺失性鼻腔鼻窦癌(SMARCB1-deficient sinonasal carcinoma, SDSC)的临床特征、诊断要点及治疗策略。本例患者女性,68岁,因“头晕伴右侧头痛1周”入院,近3年有性格改变及记忆力下降。头颅CT及MRI示蝶窦占位伴周围骨质破坏及斜坡侵犯。行鼻内镜下蝶窦病损根治性切除术,术后病理示肿瘤细胞呈低分化/未分化形态,免疫组化示INI-1核表达完全缺失,Ki-67约60%,确诊为SDSC。术后转肿瘤科行辅助放疗,短期随访未见复发及转移。原发于蝶窦的SDSC较为罕见,临床表现缺乏特异性,影像学结合免疫组化INI-1检测是确诊关键。根治性手术切除联合术后放疗是当前主要治疗手段,患者需长期严密随访。

Abstract:

This study retrospectively analyzed the clinical data of a patient with SMARCB1/INI-1-deficient sinonasal carcinoma (SDSC) primarily arising in the sphenoid sinus, and explored its clinical characteristics, diagnostic essentials, and treatment strategies. The patient was a 68-year-old female who presented with a one-week history of dizziness and right-sided headache, with a three-year history of progressive personality changes and memory decline. Head computed tomography and magnetic resonance imaging revealed a soft-tissue mass in the sphenoid sinus with adjacent bone destruction and clivus invasion. Endoscopic sphenoidotomy with radical tumor resection was performed. Histopathological examination demonstrated poorly differentiated/undifferentiated carcinoma with complete loss of INI-1 nuclear expression on immunohistochemistry and a Ki-67 proliferation index of approximately 60%, confirming the diagnosis of SDSC. The patient was subsequently referred for adjuvant intensity-modulated radiotherapy. Short-term follow-up showed no evidence of recurrence or distant metastasis. Primary SDSC of the sphenoid sinus is rare and lacks specific clinical manifestations. Imaging combined with INI-1 immunohistochemistry is essential for definitive diagnosis. Radical surgical resection combined with adjuvant radiotherapy remains the cornerstone of treatment, and long-term close surveillance is warranted.