目的探讨颅内原发性恶性外周神经鞘膜肿瘤(MPNST)的临床及病理学特征,加深对这一疾病的认识。方法通过光镜及免疫组化对4例颅内恶性外周神经鞘膜肿瘤进行观察,同时复习相关文献。结果 4例MPNST中女性2例,男性2例,年龄4~61岁。临床表现包括面瘫、嗜睡、乏力伴呕吐,头晕、头痛伴单眼闭合不全,头痛伴行走不稳。巨检示肿瘤最大径4~12 cm,平均6.3 cm,边界不清;切面灰红色、鱼肉样,部分区域黏液变性,常伴出血、坏死。组织学示肿瘤主要由梭形细胞组成,呈弥漫、束状分布,疏密不一,可见黏液样背景。肿瘤细胞梭形、多形性,有明显的异型性。免疫组化示肿瘤细胞S-100(+),Ki-67呈高表达。3例随访6~24个月,患者死亡,1例肿瘤复发。结论颅内MPNST少见,预后差。确诊主要依病理学检查及免疫标记。手术切净肿瘤并辅以放疗及合理的化疗,可以延长患者的生存期。 Objective To investigate the clinical and pathological features of intracranial primary malignant peripheral nerve sheath tumor (MPNST) and to deepen the understanding of this disease. Methods Four cases of malignant peripheral nerve sheath tumor were observed by light microscope and immunohistochemistry, and the related literatures were reviewed. Results In 4 cases of MPNST, there were 2 females and 2 males, ranging in age from 4 to 61 years. Clinical manifestations include facial paralysis, lethargy, fatigue associated with vomiting, dizziness, headache with monocular closure, headache with walking instability. Giant tumor showed a maximum diameter of 4 ~ 12 cm, an average of 6.3 cm, the boundary is unclear; cut grayish red, fish-like, mucinous degeneration in some areas, often accompanied by hemorrhage and necrosis. Histology showed that the tumor mainly composed of spindle cells, diffuse, bundle-like distribution, different density, visible mucus-like background. Tumor cell spindle, pleomorphic, with obvious atypia. Immunohistochemistry showed that tumor cells S-100 (+), Ki-67 was highly expressed. Three patients were followed up for 6-24 months, the patients died and one patient had tumor recurrence. Conclusion intracranial MPNST rare, poor prognosis. Confirmed mainly by pathological examination and immune markers. Surgical removal of neoplasms combined with radiotherapy and chemotherapy, can extend the patient’s survival.