Hanna Joshua A, Mathkour Mansour, Gouveia Edna E, Lane JonMark, Boehm Lauren, Keen Joseph R, Biro Erin E, Sulaiman Olawale A, Bui Cuong J
Department of Neurosurgery, Ochsner Clinic Foundation, New Orleans, LA.
Department of Neurosurgery, Tulane Medical Center, New Orleans, LA.
Ochsner J. 2020 Summer;20(2):226-231. doi: 10.31486/toj.18.0156.
Pleomorphic xanthoastrocytoma (PXA) is a rare and often focal glioma that most commonly affects children and young adults. Lesions are preferentially supratentorial and superficial, although infratentorial masses have been described, along with occasional involvement of the leptomeninges. The World Health Organization (WHO) categorizes these tumors as grade II, with surgical resection carrying a favorable prognosis. However, these tumors may undergo malignant degeneration and must be identified for appropriate treatment and prognosis. PXA has been associated with neurofibromatosis type 1 (NF1), although it is not the classic phenotype of NF1. We present a novel report of PXA, atypically located in the pineal region of a patient with a history of NF1. A 17-year-old male with a history of NF1 presented with 1 month of bifrontal headaches. Magnetic resonance imaging was significant for a heterogeneous tectal mass, suspicious for a glioma extending to the fourth ventricle and causing displacement of the cerebral aqueduct without obstructive hydrocephalus. Following an infratentorial-supracerebellar approach for tumor resection, histopathology confirmed a low-grade variable neoplasm consistent with PXA. Postoperative imaging confirmed gross total resection with no evidence of recurrence at 9 months postoperatively. To our knowledge, this case is the fifth report of pineal PXA and the first associated with NF1. Because PXA presents similarly to other NF1-related intracranial tumors, careful diagnosis via immunohistochemistry is imperative. Gross tumor resection is usually curative; however, PXA has the propensity to undergo malignant degeneration and may require adjuvant treatment.
多形性黄色星形细胞瘤（PXA）是一种罕见的、通常为局限性的胶质瘤，最常见于儿童和年轻人。病变多位于幕上且表浅，尽管也有幕下肿块的描述，偶尔还会累及软脑膜。世界卫生组织（WHO）将这些肿瘤归类为二级，手术切除后预后良好。然而，这些肿瘤可能会发生恶性变，必须明确诊断以便进行适当的治疗和判断预后。PXA与1型神经纤维瘤病（NF1）有关，尽管它不是NF1的典型表型。我们报告一例罕见的PXA病例，其非典型地位于一名有NF1病史患者的松果体区。一名有NF1病史的17岁男性出现了1个月的双侧额叶头痛。磁共振成像显示中脑顶盖有一个不均匀肿块，怀疑是胶质瘤，延伸至第四脑室并导致大脑导水管移位，但无梗阻性脑积水。采用幕下小脑上入路进行肿瘤切除后，组织病理学证实为与PXA一致的低级别异质性肿瘤。术后影像学检查证实肿瘤全切，术后9个月无复发迹象。据我们所知，并与NF1相关。由于PXA的表现与其他NF1相关的颅内肿瘤相似，因此必须通过免疫组化进行仔细诊断。肿瘤全切通常可治愈；然而，PXA有发生恶性变的倾向，可能需要辅助治疗。
