Niwa Hirotaka, Kato Takenori, Hasegawa Toshinori, Kuwabara Kyoko, Ohka Fumiharu, Hirato Junko, Sasaki Shoh, Ichimura Koichi, Yoshioka Takako, Naito Takehiro, Mizuno Akihiro, Kageyama Akinori, Oishi Hiroyuki, Saito Ryuta
Departments of Neurosurgery, Komaki City Hospital, Komaki, Aichi, Japan.
Departments of Pathology, Komaki City Hospital, Komaki, Aichi, Japan.
J Neurosurg Case Lessons. 2024 Oct 7;8(15). doi: 10.3171/CASE24395.
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.
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.
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.
具有毛细胞样特征的高级别星形细胞瘤（HGAP）是2021年世界卫生组织分类中引入的一种新疾病。鉴于其最近才被分类，目前缺乏阐明其临床特征或诊断标准的报告，尤其是在非典型表现的病例中。在此，作者报告了一例罕见的HGAP病例，该病例反复出现症状性出血。
一名20多岁的女性出现急性头痛和眩晕。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厘米的出血性肿块，并伴有钙化。在症状稍有改善后，她再次出血，18天后肿瘤大小增加（3.0×3.6×4.0厘米），需要进行切除。病理和分子分析证实诊断为HGAP，伴有FGFR1-TACC1融合、MTAP/CDKN2A/B缺失和SETD2重排。在影像学上，钙化和囊性成分的存在以及瘤周水肿的缺失是先前报道的HGAP的非典型特征。
虽然HGAP中反复出现症状性颅内出血很少见，但磁共振成像上增强的病变提示需要切除以获取组织进行分子诊断并指导辅助治疗策略。https://thejns.org/doi/10.3171/CASE24395 。
