Passman Justin N, Bellow Emily, Singh Heshwin, Kleyner Robert S, Seidman Roberta, Chesler David A
Departments of Neurosurgery, Renaissance School of Medicine at Stony Brook University, Stony Brook, New York.
Pathology, Renaissance School of Medicine at Stony Brook University, Stony Brook, New York.
J Neurosurg Case Lessons. 2025 Jun 23;9(25). doi: 10.3171/CASE25146.
Supratentorial ependymoma, ZFTA fusion-positive, CNS WHO grade 3, is a rare pediatric brain tumor characterized by brisk mitotic activity and sometimes microvascular proliferation and/or necrosis. Typical treatment includes a combination of resection, chemotherapy, and radiation therapy. These tumors often present at age 3 or 4 years and have a poor prognosis.
The authors present the case of a 4-year-old girl who presented asymptomatically with recurrence of a supratentorial ependymoma, ZFTA fusion-positive, CNS WHO grade 3, of the right parietal lobe with a homozygous CDKN2A deletion through chemotherapy after an initial gross-total resection. Tumor recurrence presented with a traditional intraparenchymal cystic component that initially appeared to invade through the dura mater, diploë, and outer table of the skull. On closer examination of the calvaria and dura in the operating room, a trabeculated and soft tissue mixed with invasion into the outer table contiguous with calcifications on the native dura was observed. Histopathological analysis confirmed that the recurrent tumor was confined intradurally with treatment effect, and the dural and calvarial findings represented a reactive inflammatory process likely related to prior surgery, chemotherapy, and possibly the neoplasm itself.
This case illustrates an atypical presentation of a recurrent supratentorial ependymoma, ZFTA fusion-positive, CNS WHO grade 3, where reactive inflammatory changes of the dura and calvaria mimicked dural and calvarial invasion. These findings demonstrate the importance of histopathological evaluation in distinguishing true tumor recurrence from atypical inflammatory responses to prior surgery, chemotherapy, or the neoplasm itself and close postoperative follow-up. https://thejns.org/doi/10.3171/CASE25146.
幕上室管膜瘤，ZFTA融合阳性，中枢神经系统WHO 3级，是一种罕见的儿童脑肿瘤，其特征为有活跃的有丝分裂活性，有时伴有微血管增生和/或坏死。典型的治疗方法包括手术切除、化疗和放疗联合应用。这些肿瘤通常在3或4岁时出现，预后较差。
作者报告了一例4岁女孩的病例，该女孩在初次大体全切术后通过化疗出现幕上室管膜瘤复发，ZFTA融合阳性，中枢神经系统WHO 3级，位于右顶叶，伴有纯合子CDKN2A缺失。肿瘤复发表现为传统的脑实质内囊性成分，最初似乎侵犯硬脑膜、板障和颅骨外板。在手术室对颅骨和硬脑膜进行仔细检查时，观察到一种小梁状软组织，伴有对与硬脑膜上钙化相邻的外板的侵犯。组织病理学分析证实，复发性肿瘤在硬膜内局限于治疗效果，硬脑膜和颅骨的表现代表一种可能与既往手术、化疗以及可能与肿瘤本身相关的反应性炎症过程。
本病例说明了幕上室管膜瘤复发的非典型表现，ZFTA融合阳性，中枢神经系统WHO 3级，其中硬脑膜和颅骨的反应性炎症变化模拟了硬脑膜和颅骨侵犯。这些发现表明了组织病理学评估在区分真正的肿瘤复发与对既往手术、化疗或肿瘤本身的非典型炎症反应以及术后密切随访中的重要性。https://thejns.org/doi/10.3171/CASE25146
