Goethe Eric A, Alfattal Rasha, Srinivasan Subhiksha, Dasgupta Pushan, Puduvalli Vinay, Weathers Shiao-Pei, Ballester Leomar Y, Weinberg Jeffrey S, Prabhu Sujit, Ferguson Sherise D, Gubbiotti Maria A
Department of Neurosurgery, The University of Texas MD Anderson Cancer Center, Houston, TX, 77030, USA.
Department of Neurosurgery, Baylor College of Medicine, Houston, TX, 77030, USA.
Acta Neuropathol Commun. 2025 Aug 18;13(1):176. doi: 10.1186/s40478-025-02097-7.
Modern molecular diagnostic techniques such as DNA methylation profiling are leading to the reclassification of several central nervous system malignancies and discovery of novel diagnostic entities, such as high-grade glioma with pleomorphic and pseudopapillary features (HPAP).
We performed a retrospective chart review of all patients with HPAP confirmed with methylation profiling at a single institution between 2023 and 2025. Demographic, radiographic, surgical, and outcome data were collected.
Three patients were identified: two females and one male with a mean age of 49.7 years (range 25-62). No patients had a prior cancer history. One patient had an incidentally discovered tumor, while the other two patients underwent imaging for symptoms of headache, vision changes and extremity weakness. Mean tumor size was 4.0 cm (range 2.8-6) with a wide variation in imaging characteristics. All patients underwent surgical resection and radiographic gross total resection was achieved in all cases. All patients underwent radiation therapy without concurrent chemotherapy. After a median 20 months follow up (range 4.5 to 108.9), two patients experienced tumor progression at 2.7 months and 86.5 months respectively. All patients were alive at last follow up.
HPAP is a novel clinical entity demonstrating variable molecular signatures sharing a common DNA methylation profile which demonstrates a relatively favorable clinical course when compared with other high grade gliomas. Further study is needed to determine the optimal treatment and factors that influence survival.
现代分子诊断技术，如DNA甲基化分析，正导致几种中枢神经系统恶性肿瘤的重新分类，并发现新的诊断实体，如具有多形性和假乳头状特征的高级别胶质瘤（HPAP）。
我们对2023年至2025年在单一机构通过甲基化分析确诊为HPAP的所有患者进行了回顾性病历审查。收集了人口统计学、影像学、手术和预后数据。
共识别出3例患者：2例女性和1例男性，平均年龄49.7岁（范围25 - 62岁）。所有患者既往均无癌症病史。1例患者肿瘤为偶然发现，另外2例患者因头痛、视力改变和肢体无力症状接受影像学检查。平均肿瘤大小为4.0厘米（范围2.8 - 6厘米），影像学特征差异较大。所有患者均接受了手术切除，所有病例均实现了影像学上的大体全切。所有患者均接受了放疗，未同时进行化疗。中位随访20个月（范围4.5至108.9个月）后，2例患者分别在2.7个月和86.5个月出现肿瘤进展。最后一次随访时所有患者均存活。
HPAP是一种新的临床实体，具有可变的分子特征，共享共同的DNA甲基化谱，与其他高级别胶质瘤相比，其临床病程相对较好。需要进一步研究以确定最佳治疗方法和影响生存的因素。
