All-in-one bimodal DNA and RNA next-generation sequencing panel for integrative diagnosis of glioma

IF 2.9 4区医学 Q2 PATHOLOGY

Pathology, research and practice Pub Date : 2024-09-28 DOI:10.1016/j.prp.2024.155598

Nayuta Higa , Toshiaki Akahane , Mari Kirishima , Hajime Yonezawa , Ryutaro Makino , Hiroyuki Uchida , Seiya Yokoyama , Tomoko Takajo , Ryosuke Otsuji , Yutaka Fujioka , Yuhei Sangatsuda , Daisuke Kuga , Hitoshi Yamahata , Nobuhiro Hata , Nobutaka Horie , Masamichi Kurosaki , Junkoh Yamamoto , Koji Yoshimoto , Akihide Tanimoto , Ryosuke Hanaya

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引用次数: 0

Abstract

Previously, we constructed a DNA-based next-generation sequencing (NGS) panel for an integrated diagnosis of gliomas according to the 2021 World Health Organization classification system. The aim of the current study was to evaluate the feasibility of a modified panel to include fusion gene detection via RNA-based analysis. Using this bimodal DNA/RNA panel, we analyzed 210 cases of gliomas and others to identify fusion genes in addition to gene alterations, including TERT promoter (TERTp) mutation and 1p/19q co-deletion, in formalin-fixed paraffin-embedded tissues. Of the 210 patients, fusion genes were detected in tumors of 35 patients. Eighteen of 112 glioblastomas (GBs) harbored fusion genes, including EGFR and FGFR3 fusions. In IDH-mutant astrocytoma, 6 of 30 cases showed fusion genes such as MET and NTRK2 fusions. Eleven molecular GBs and 20 not-elsewhere-classified cases harbored no gene fusions. Other 11 tumors including ependymoma, pilocytic astrocytoma, diffuse hemispheric glioma, infant-type hemispheric glioma, and solitary fibrous tumors exhibited diagnostic fusion genes. Overall, our results suggest that the all-in-one bimodal DNA/RNA panel is reliable for detecting diagnostic gene alterations in accordance with the latest WHO classification. The integrative pathological and molecular strategy could be valuable in confirmation of diagnosis and selection of treatment options for brain tumors.

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用于胶质瘤综合诊断的一体化双模 DNA 和 RNA 下一代测序面板。

此前，我们根据世界卫生组织 2021 年的分类系统构建了一个基于 DNA 的下一代测序（NGS）面板，用于胶质瘤的综合诊断。本研究的目的是评估通过基于 RNA 分析的融合基因检测面板的可行性。利用这种双模DNA/RNA面板，我们分析了210例胶质瘤和其他病例，以确定福尔马林固定石蜡包埋组织中除TERT启动子（TERTp）突变和1p/19q共缺失等基因改变外的融合基因。在210名患者中，35名患者的肿瘤中检测到融合基因。112例胶质母细胞瘤（GBs）中有18例存在融合基因，包括表皮生长因子受体（EGFR）和表皮生长因子受体3（FGFR3）融合。在 IDH 突变的星形细胞瘤中，30 例中有 6 例显示出融合基因，如 MET 和 NTRK2 融合。11 例分子 GB 和 20 例未在其他地方分类的病例未发现基因融合。其他 11 种肿瘤，包括脑上皮瘤、柔毛细胞性星形细胞瘤、弥漫性半球胶质瘤、婴儿型半球胶质瘤和单发纤维性肿瘤，均表现出诊断性融合基因。总之，我们的研究结果表明，一体化双模 DNA/RNA 检测板可根据世界卫生组织的最新分类可靠地检测诊断性基因改变。综合病理和分子策略对脑肿瘤的确诊和治疗方案的选择具有重要价值。

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

Pathology, research and practice 医学-病理学

CiteScore

5.00

自引率

3.60%

发文量

405

审稿时长

24 days

期刊介绍： Pathology, Research and Practice provides accessible coverage of the most recent developments across the entire field of pathology: Reviews focus on recent progress in pathology, while Comments look at interesting current problems and at hypotheses for future developments in pathology. Original Papers present novel findings on all aspects of general, anatomic and molecular pathology. Rapid Communications inform readers on preliminary findings that may be relevant for further studies and need to be communicated quickly. Teaching Cases look at new aspects or special diagnostic problems of diseases and at case reports relevant for the pathologist''s practice.