Dincer Alper, Kim Miri, Hüseyinoglu Zeynep, Millares Chavez Miguel, McGuone Declan, Moliterno Jennifer
Department of Neurosurgery, Tufts Medical Center, Boston, Massachusetts.
Department of Neurosurgery, Yale School of Medicine, New Haven, Connecticut.
J Neurosurg Case Lessons. 2025 May 5;9(18). doi: 10.3171/CASE24778.
The recent WHO 2021 CNS classification system defines new tumor types and subtypes based on molecular features. Among them, high-grade astrocytoma with piloid features (HGAP) is a glioma subtype whose classification depends on its DNA methylation profiling signature. These tumors can have a varied histological appearance and are often misclassified.
A 41-year-old male presented with right-sided weakness and headache. MRI detected a heterogeneously enhancing mass in the pineal region. The patient underwent an endoscopic third ventriculostomy, and a biopsy sample was obtained. The pathology was initially consistent with a high-grade neuroepithelial tumor. Repeat imaging 3 weeks postoperatively demonstrated an interval increase in tumor size. He underwent a suboccipital craniectomy for gross-total resection. DNA methylation profiling was performed and was consistent with the diagnosis of HGAP. The patient was given chemoradiotherapy due to the high-grade pathology.
Integration of molecular pathology has led to crucial and clinically relevant changes in CNS tumor classification. Utilizing these advanced diagnostic techniques to classify tumors could lead to changes in management, targeted therapeutics, and enrollment in clinical trials. https://thejns.org/doi/10.3171/CASE24778.
世界卫生组织2021年中枢神经系统分类系统基于分子特征定义了新的肿瘤类型和亚型。其中，具有毛细胞样特征的高级别星形细胞瘤（HGAP）是一种胶质瘤亚型，其分类取决于其DNA甲基化谱特征。这些肿瘤的组织学表现可能各不相同，且常被误诊。
一名41岁男性出现右侧肢体无力和头痛。MRI检测到松果体区有一个不均匀强化的肿块。患者接受了内镜下第三脑室造瘘术，并获取了活检样本。病理检查最初结果符合高级别神经上皮肿瘤。术后3周的复查影像显示肿瘤大小有间隔性增大。他接受了枕下开颅手术以进行全切。进行了DNA甲基化谱分析，结果与HGAP的诊断相符。由于病理级别高，患者接受了放化疗。
分子病理学的整合已导致中枢神经系统肿瘤分类发生关键且与临床相关的变化。利用这些先进的诊断技术对肿瘤进行分类可能会导致治疗管理、靶向治疗以及临床试验入组情况的改变。https://thejns.org/doi/10.3171/CASE24778 。
