Tabor Joanna K, Lei Haoyi, Morales-Valero Saul F, O'Brien Joseph, Gopal Pallavi P, Erson-Omay E Zeynep, Fulbright Robert K, Moliterno Jennifer
Departments of1Neurosurgery.
2The Chenevert Family Brain Tumor Center, Smilow Cancer Hospital, New Haven, Connecticut.
J Neurosurg Case Lessons. 2023 Jan 23;5(4). doi: 10.3171/CASE22532.
Primary intracranial leiomyosarcomas (PILMSs) are extremely rare tumors arising from smooth muscle connective tissue. PILMSs have been shown to be associated with Epstein-Barr virus (EBV). Thus far, EBV-associated PILMS has been exclusively described in immunocompromised patients.
A 40-year-old male presented with a 2-year history of left-sided headaches, nausea, and vomiting. Magnetic resonance imaging demonstrated a large, heterogeneously enhancing, lobulated, dura-based mass arising from the left middle cranial fossa with associated edema and mass effect. The patient underwent an uncomplicated resection of suspected meningioma; neuropathology revealed the exceedingly rare diagnosis of EBV-associated PILMS. Follow-up testing for human immunodeficiency virus (HIV) and other immunodeficiencies confirmed the patient's immunocompetent status.
Primary intracranial smooth muscle tumors are often misdiagnosed as meningiomas due to their similar appearance on imaging. PILMSs have a poor prognosis and gross total resection is the mainstay of treatment in the absence of clear recommendations for management. Prompt diagnosis and resection are important; therefore, these tumors should be included in the differential of dura-based tumors, especially among immunocompromised patients. Although EBV-associated PILMSs usually occur in immunocompromised individuals, their presence cannot be ruled out in immunocompetent patients.
原发性颅内平滑肌肉瘤（PILMS）是起源于平滑肌结缔组织的极为罕见的肿瘤。已表明PILMS与爱泼斯坦-巴尔病毒（EBV）有关。迄今为止，EBV相关的PILMS仅在免疫功能低下的患者中被描述过。
一名40岁男性有2年左侧头痛、恶心和呕吐病史。磁共振成像显示一个大的、不均匀强化的、分叶状的、起源于左侧中颅窝的硬膜下肿块，并伴有水肿和占位效应。患者接受了疑似脑膜瘤的简单切除术；神经病理学检查显示为极为罕见的EBV相关PILMS诊断。对人类免疫缺陷病毒（HIV）和其他免疫缺陷的后续检测证实患者免疫功能正常。
原发性颅内平滑肌肿瘤由于在影像学上外观相似，常被误诊为脑膜瘤。PILMS预后不良，在缺乏明确治疗建议的情况下，全切除是主要治疗方法。及时诊断和切除很重要；因此，这些肿瘤应列入硬膜下肿瘤的鉴别诊断范围，尤其是在免疫功能低下的患者中。虽然EBV相关的PILMS通常发生在免疫功能低下的个体中，但在免疫功能正常的患者中也不能排除其存在。
