Recurrent symptomatic intracranial hemorrhage in high-grade astrocytoma with piloid features: illustrative case.

Hirotaka Niwa, Takenori Kato, Toshinori Hasegawa, Kyoko Kuwabara, Fumiharu Ohka, Junko Hirato, Shoh Sasaki, Koichi Ichimura, Takako Yoshioka, Takehiro Naito, Akihiro Mizuno, Akinori Kageyama, Hiroyuki Oishi, Ryuta Saito
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Abstract

Background: High-grade astrocytoma with piloid features (HGAP) is a novel condition introduced in the 2021 World Health Organization classification. Given that it has been recently classified, reports clarifying its clinical features or diagnostic criteria are lacking, especially in cases of atypical presentation. Herein, the authors present a rare case of HGAP with repeated symptomatic hemorrhages.

Observations: A woman in her 20s presented with an acute headache and vertigo. Computed tomography and magnetic resonance imaging revealed a 2.5 × 2.8 × 2.3-cm hemorrhagic cerebellar mass with calcifications. After moderate improvement of her symptoms, she developed recurrent hemorrhage, and the tumor size increased (3.0 × 3.6 × 4.0 cm) 18 days later, necessitating resection. Pathological and molecular analyses confirmed the diagnosis of HGAP with an FGFR1-TACC1 fusion, MTAP/CDKN2A/B deletion, and SETD2 rearrangement. Radiologically, the presence of calcification and cystic components and the absence of perilesional edema were atypical features of previously reported HGAP.

Lessons: Although recurrent symptomatic intracranial hemorrhages are rare in HGAP, enhancing lesions on magnetic resonance imaging suggest the need for resection to obtain tissue for molecular diagnosis and guide adjuvant treatment strategies. https://thejns.org/doi/10.3171/CASE24395.

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具有梭形细胞特征的高级别星形细胞瘤复发性症状性颅内出血:示例病例。
背景:具有类皮质特征的高级别星形细胞瘤(HGAP)是世界卫生组织 2021 年分类中引入的一种新病症。鉴于它是最近才被分类的,目前还缺乏明确其临床特征或诊断标准的报告,尤其是在表现不典型的病例中。在此,作者介绍了一例罕见的伴有反复症状性出血的 HGAP 病例:一名 20 多岁的女性因急性头痛和眩晕就诊。计算机断层扫描和磁共振成像显示,小脑有一个 2.5 × 2.8 × 2.3 厘米的出血肿块,并伴有钙化。症状略有改善后,她又出现了复发性出血,18 天后肿瘤体积增大(3.0 × 3.6 × 4.0 厘米),不得不进行切除手术。病理和分子分析证实了 HGAP 的诊断,并伴有 FGFR1-TACC1 融合、MTAP/CDKN2A/B 缺失和 SETD2 重排。从放射学角度看,钙化和囊性成分的存在以及周围水肿的缺失是之前报道的HGAP的非典型特征:https://thejns.org/doi/10.3171/CASE24395。
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