Aljendi Ruba, Knifaty Mohammed Amr, Amin Mohammed, Diab Souliman, Ali Muhammad Saleh, Alshehabi Zuheir
Faculty of Medicine, Cancer Research Center, Tishreen University, Lattakia, Syria.
Tishreen University Hospital, Cancer Research Center, Tishreen University, Lattakia, Syria.
Case Rep Neurol. 2023 Feb 17;15(1):54-62. doi: 10.1159/000529741. eCollection 2023 Jan-Dec.
Pleomorphic xanthoastrocytoma (PXA) is a rare glioma. It accounts for less than 1% of all astrocytomas. About 98% of PXAs originate supratentorially with the temporal lobe being the most common location. Cases of infratentorial PXAs are rarely reported in the medical literature. The tumor presents with a wide variation of symptoms based on the neuroanatomy involved with the location and size of the tumor, with seizures being the most reported symptom. The diagnosis depends on histological and clinical features along with radiologic features. We searched the keywords "Pleomorphic xanthastrocytoma, PXA, cerebellum, infratentorium, astrocytoma, gliomas" in the PubMed database; from 1979 to the current date, 28 cases were found in the medical literature featuring PXA in the infratentorium. We present the 29th case in the literature and the first in Syria. Our patient had a lesion in the right cerebellum and presented with a history of intermittent headache for 5 months followed by progressive gait disturbances and blurry vision and was misdiagnosed at the time of presentation with a high-grade glioma which is a common confusion because of the histological and clinical similarities. The patient underwent a suboccipital craniotomy, and adjuvant therapy with a combination of radiotherapy and chemotherapy with temozolomide was initiated at first. Then, the patient presented with a relapse of symptoms and went through another surgery where frozen sections suggested the diagnosis of PXA; further histopathological and immunohistochemical studies confirmed the diagnosis. Alongside highlighting the diagnostic challenge of this rare tumor, we did a brief review of the literature.
多形性黄色星形细胞瘤(PXA)是一种罕见的胶质瘤。它在所有星形细胞瘤中占比不到1%。约98%的PXA起源于幕上,其中颞叶是最常见的发病部位。幕下PXA病例在医学文献中鲜有报道。该肿瘤根据肿瘤的位置和大小所涉及的神经解剖结构不同,症状表现差异很大,癫痫发作是最常报道的症状。诊断依赖于组织学、临床特征以及影像学特征。我们在PubMed数据库中搜索了关键词“多形性黄色星形细胞瘤、PXA、小脑、幕下、星形细胞瘤、胶质瘤”;从1979年至今,医学文献中发现28例幕下PXA病例。我们报告了文献中的第29例病例,也是叙利亚的首例。我们的患者右侧小脑有病变,有5个月间歇性头痛病史,随后出现进行性步态障碍和视力模糊,初诊时被误诊为高级别胶质瘤,由于组织学和临床特征相似,这是一种常见的误诊情况。患者接受了枕下开颅手术,起初开始采用放疗和替莫唑胺化疗联合的辅助治疗。然后,患者症状复发,再次接受手术,术中冰冻切片提示PXA诊断;进一步的组织病理学和免疫组化研究证实了诊断。除了强调这种罕见肿瘤的诊断挑战外,我们还对文献进行了简要回顾。