High-grade astrocytoma with piloid features: A case report and review of literature.

Surgical neurology international Pub Date : 2025-02-28 eCollection Date: 2025-01-01 DOI:10.25259/SNI_889_2024
Zainab Haider Ejaz, Aisha Hassan Memon, Shayan Sirat Maheen Anwar, Shahzad M Shamim
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Abstract

Background: High-grade astrocytoma with piloid features (HGAP) is a rare, newly recognized brain tumor, typically seen in middle aged to elderly patients, often associated with neurofibromatosis type 1.

Case description: We report the first documented case of HGAP in Pakistan in a 57-year-old woman with tremors, vertigo, and cerebellar signs. Magnetic resonance imaging showed a cerebellar lesion, and after resection, initial pathology suggested a pilocytic astrocytoma. Molecular testing confirmed HGAP with a CDKN2A/B deletion. Despite treatment, including a second surgery, the disease progressed.

Conclusion: This case highlights the diagnostic challenges of HGAP and underscores the importance of advanced molecular testing for accurate diagnosis. Given the poor prognosis and limited treatment options, further research is needed to understand this rare tumor entity better and improve patient outcomes.

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高级别星形细胞瘤伴核样特征:1例报告及文献复习。
背景:高级别星形细胞瘤伴核样特征(HGAP)是一种罕见的新发现的脑肿瘤,多见于中老年患者,常伴有1型神经纤维瘤病。病例描述:我们报告巴基斯坦第一例HGAP病例,患者为一名57岁女性,伴有震颤、眩晕和小脑症状。磁共振成像显示小脑病变,切除后,初步病理提示毛细胞星形细胞瘤。分子检测证实HGAP存在CDKN2A/B缺失。尽管接受了治疗,包括第二次手术,病情仍在恶化。结论:本病例突出了HGAP的诊断挑战,强调了先进分子检测对准确诊断的重要性。鉴于预后不良和治疗选择有限,需要进一步的研究来更好地了解这种罕见的肿瘤实体并改善患者的预后。
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