松果体区促纤维组织增生性黏液样肿瘤，SMARCB1突变：病例展示
Desmoplastic myxoid tumor of the pineal region, SMARCB1 mutant: illustrative case.
作者信息
Zhou Chengbin, Zhang Benyan, Wang Baofeng, Sun Yuhao, Bian Liuguan
机构信息
Department of Neurosurgery, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
Department of Pathology, Ruijin Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, China.
出版信息
J Neurosurg Case Lessons. 2024 Nov 25;8(22). doi: 10.3171/CASE24419.
BACKGROUND
Desmoplastic myxoid tumor (DMT) of the pineal region, SMARCB1 mutant is a newly proposed tumor in the 2021 World Health Organization classification of central nervous system tumors. Based on a comprehensive literature review, only 10 cases have been reported so far.
OBSERVATIONS
Here, the authors describe a 50-year-old female who presented with sudden headache and dizziness combined with paralysis of upward gaze. Imaging studies showed a pineal region mass with obstructive hydrocephalus. The patient underwent a pineal region tumor resection, and the pathological result confirmed the diagnosis of DMT, SMARCB1 mutant.
LESSONS
This case showed a patient with DMT, SMARCB1 mutant with a relatively low Ki-67 proliferation index (less than 1%), clinically combined with typical Parinaud's syndrome. At the same time, the follow-up of this case may provide a better understanding of the prognosis of this specific kind of tumor. https://thejns.org/doi/10.3171/CASE24419.
背景
松果体区促纤维增生性黏液样肿瘤（DMT），SMARCB1突变型是2021年世界卫生组织中枢神经系统肿瘤分类中新提出的肿瘤。基于全面的文献综述，迄今为止仅报道了10例。
观察结果
在此，作者描述了一名50岁女性，她出现突发头痛、头晕并伴有向上凝视麻痹。影像学检查显示松果体区肿块伴梗阻性脑积水。患者接受了松果体区肿瘤切除术，病理结果证实为DMT，SMARCB1突变型。
经验教训
该病例显示了一名DMT、SMARCB1突变型患者，其Ki-67增殖指数相对较低（小于1%），临床上合并典型的Parinaud综合征。同时，该病例的随访可能有助于更好地了解这种特定肿瘤的预后。https://thejns.org/doi/10.3171/CASE24419 。
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