Tian Lei, Sun Wei, Lou Lei, Wang Wenyan, Li Yanan, Zhou Huandi, Xiao Zhiqing, Xue Xiaoying
Department of Radiotherapy, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Department of Pathology, The Second Hospital of Hebei Medical University, Shijiazhuang, Hebei, China.
Front Surg. 2025 Jun 4;12:1595199. doi: 10.3389/fsurg.2025.1595199. eCollection 2025.
Pleomorphic xanthoastrocytoma (PXA) is a rare benign WHO grade II astrocytoma predominantly observed in pediatric and adolescent populations, with a higher incidence in superficial brain regions. Histologically, PXA is distinguished by pleomorphic cells, lipidized cells, and eosinophilic granular bodies, frequently associated with BRAF V600E mutation and homozygous deletion of CDKN2A/B. While the overall prognosis for PXA patients is favorable, a subset of cases may progress to anaplastic PXA (WHO grade III astrocytoma) or undergo malignant transformation into epithelioid glioblastoma (E-GBM, WHO grade IV astrocytoma). The latter condition is characterized by BRAF V600E mutation, TERT promoter mutation, and aggressive clinical behavior, although distant metastasis remains uncommon. This case report describes a rare and complex malignant transformation and systemic metastasis of PXA. A 14-year-old male was diagnosed with right frontal-parietal PXA (WHO grade II astrocytoma) in 2011. After surgery, there was no recurrence for nine years. In 2020, the tumor recurred as high-grade glioblastoma, with primitive neuroectodermal and spindle cell sarcoma components. Molecular analysis revealed BRAF V600E mutation and CDKN2A homozygous deletion. Despite multiple treatments including surgery, radiotherapy, and targeted therapy, the tumor continued to progress. By 2024, the disease had spread to the spinal cord and bones, leading to the patient's death. The complex molecular mechanisms of PXA's malignant transformation require an optimized targeted therapy approach based on molecular profiling and long-term vigilance for distant metastasis, guiding the management of similar cases.
多形性黄色星形细胞瘤（PXA）是一种罕见的WHO二级良性星形细胞瘤，主要见于儿童和青少年人群，在脑浅表区域发病率较高。组织学上，PXA的特征为多形性细胞、脂质化细胞和嗜酸性颗粒体，常与BRAF V600E突变及CDKN2A/B纯合缺失相关。虽然PXA患者的总体预后良好，但一部分病例可能进展为间变性PXA（WHO三级星形细胞瘤）或恶变为上皮样胶质母细胞瘤（E-GBM，WHO四级星形细胞瘤）。后一种情况的特征是BRAF V600E突变、TERT启动子突变及侵袭性临床行为，不过远处转移仍然少见。本病例报告描述了一例罕见且复杂的PXA恶变及全身转移情况。一名14岁男性于2011年被诊断为右额顶叶PXA（WHO二级星形细胞瘤）。手术后，9年未复发。2020年，肿瘤复发为高级别胶质母细胞瘤，伴有原始神经外胚层和梭形细胞肉瘤成分。分子分析显示BRAF V600E突变和CDKN2A纯合缺失。尽管接受了包括手术、放疗和靶向治疗在内的多种治疗，肿瘤仍持续进展。到2024年，疾病已扩散至脊髓和骨骼，导致患者死亡。PXA恶变的复杂分子机制需要基于分子谱分析的优化靶向治疗方法以及对远处转移的长期监测，以指导类似病例的管理。
