Molecular Characterization of a Rare Glioblastoma Case With Atypical Histopathologic Features.

IF 1.8 4区医学 Q3 ONCOLOGY

Oncology-New York Pub Date : 2025-09-15 DOI:10.46883/2025.25921050

Nanuli Gvazava, Tolga Tuncer, Wei Zhang, Anup Kasi, Uma Bhoot

引用次数: 0

Abstract

A 76-year-old man presented with a subtle, non-mass-like right insular and temporal opercular T2 FLAIR hyperintensity that remained stable for over 2 years before showing interval progression. Resection revealed mildly hypercellular atypical glial cells with a Ki-67 index of approximately 1% and no necrosis or microvascular proliferation. Immunohistochemistry was negative for IDH1 R132H. Next-generation sequencing identified a TERT promoter mutation, EGFR amplification, and CDKN2A deletion. Methylation profiling confirmed glioblastoma, IDH wild-type, World Health Organization grade 4. Despite lacking classic histologic features, the integrated molecular findings established the diagnosis. The patient underwent near-total resection, followed by hypofractionated radiotherapy with concurrent temozolomide, maintenance temozolomide, and tumor treating fields therapy. This case highlights the essential role of molecular diagnostics in accurately classifying diffuse gliomas with atypical histology.

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一例具有非典型组织病理特征的罕见胶质母细胞瘤的分子特征。

一位76岁男性患者表现为微妙的，非肿块样的右岛和颞眼T2 FLAIR高信号，在出现间隔性进展之前保持稳定超过2年。切除显示轻度高细胞非典型胶质细胞，Ki-67指数约为1%，无坏死或微血管增生。免疫组化检测IDH1 R132H为阴性。下一代测序鉴定出TERT启动子突变、EGFR扩增和CDKN2A缺失。甲基化分析证实为胶质母细胞瘤，IDH野生型，世界卫生组织4级。尽管缺乏典型的组织学特征，但综合分子检查结果确定了诊断。患者接受了近全切除，随后进行了低分割放疗，同时使用替莫唑胺、维持替莫唑胺和肿瘤治疗野治疗。本病例强调了分子诊断在准确分类具有非典型组织学的弥漫性胶质瘤中的重要作用。

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Oncology-New York 肿瘤学-肿瘤学

CiteScore

1.60

自引率

0.00%

发文量

审稿时长

6-12 weeks

期刊介绍： Although laboratory and clinical cancer research need to be closely linked, observations at the basic level often remain removed from medical applications. This journal works to accelerate the translation of experimental results into the clinic, and back again into the laboratory for further investigation. The fundamental purpose of this effort is to advance clinically-relevant knowledge of cancer, and improve the outcome of prevention, diagnosis and treatment of malignant disease. The journal publishes significant clinical studies from cancer programs around the world, along with important translational laboratory findings, mini-reviews (invited and submitted) and in-depth discussions of evolving and controversial topics in the oncology arena. A unique feature of the journal is a new section which focuses on rapid peer-review and subsequent publication of short reports of phase 1 and phase 2 clinical cancer trials, with a goal of insuring that high-quality clinical cancer research quickly enters the public domain, regardless of the trial’s ultimate conclusions regarding efficacy or toxicity.