脑脊液和肿瘤组织的一致性分析用于基于下一代测序的胶质瘤综合诊断。

IF 2.3 4区 医学 Q3 ONCOLOGY
Pathology & Oncology Research Pub Date : 2023-09-26 eCollection Date: 2023-01-01 DOI:10.3389/pore.2023.1611391
Qiang Wang, Qiujin Liang, Wuting Wei, Wenhao Niu, Chong Liang, Xiaoliang Wang, Xiaoxuan Wang, Hao Pan
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引用次数: 0

摘要

目的:胶质瘤的驱动突变已在脑脊液中得到鉴定。在这里,我们使用下一代测序(NGS)比较了CSF和肿瘤组织在胶质瘤综合诊断中的一致性,以评估CSF检测在胶质瘤中的可行性。患者和方法:通过基于NGS的定制基因组对27例脑胶质瘤患者的CSF/肿瘤组织进行测序。所有CSF样本均在手术前通过腰椎穿刺采集。根据世界卫生组织2021年中枢神经系统肿瘤分类,通过组织学和肿瘤DNA分子病理学分析进行综合诊断。结果:共有24例患者检测到循环肿瘤DNA(ctDNA),22例患者CSF中至少有一个体细胞突变或染色体改变。ctDNA水平在不同年龄、Ki-67指数、磁共振成像信号和神经胶质瘤亚型之间存在显著差异(p<0.05)。综合ctDNA诊断与最终诊断的一致性高达91.6%(Kappa,0.800)。我们根据CSF ctDNA测序结果对3例患者的临床诊断进行了重新分类,根据肿瘤DNA对4例患者进行再评估。有趣的是,在CSF ctDNA中发现了罕见的IDH1 R132C,但在相应的肿瘤样本中没有发现。结论:本研究表明ctDNA综合诊断与胶质瘤的最终诊断高度一致,突出了基于NGS的CSF突变检测在辅助胶质瘤特别是胶质母细胞瘤综合诊断中的实用性。
本文章由计算机程序翻译,如有差异,请以英文原文为准。

Concordance analysis of cerebrospinal fluid with the tumor tissue for integrated diagnosis in gliomas based on next-generation sequencing.

Concordance analysis of cerebrospinal fluid with the tumor tissue for integrated diagnosis in gliomas based on next-generation sequencing.

Concordance analysis of cerebrospinal fluid with the tumor tissue for integrated diagnosis in gliomas based on next-generation sequencing.

Concordance analysis of cerebrospinal fluid with the tumor tissue for integrated diagnosis in gliomas based on next-generation sequencing.

Purpose: The driver mutations of gliomas have been identified in cerebrospinal fluid (CSF). Here we compared the concordance between CSF and tumor tissue for integrated diagnosis in gliomas using next-generation sequencing (NGS) to evaluate the feasibility of CSF detection in gliomas. Patients and methods: 27 paired CSF/tumor tissues of glioma patients were sequenced by a customized gene panel based on NGS. All CSF samples were collected through lumbar puncture before surgery. Integrated diagnosis was made by analysis of histology and tumor DNA molecular pathology according to the 2021 WHO classification of the central nervous system tumors. Results: A total of 24 patients had detectable circulating tumor DNA (ctDNA) and 22 had at least one somatic mutation or chromosome alteration in CSF. The ctDNA levels varied significantly across different ages, Ki-67 index, magnetic resonance imaging signal and glioma subtypes (p < 0.05). The concordance between integrated ctDNA diagnosis and the final diagnosis came up to 91.6% (Kappa, 0.800). We reclassified the clinical diagnosis of 3 patients based on the results of CSF ctDNA sequencing, and 4 patients were reassessed depending on tumor DNA. Interestingly, a rare IDH1 R132C was identified in CSF ctDNA, but not in the corresponding tumor sample. Conclusion: This study demonstrates a high concordance between integrated ctDNA diagnosis and the final diagnosis of gliomas, highlighting the practicability of NGS based detection of mutations of CSF in assisting integrated diagnosis of gliomas, especially glioblastoma.

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来源期刊
CiteScore
6.30
自引率
0.00%
发文量
134
审稿时长
4-8 weeks
期刊介绍: Pathology & Oncology Research (POR) is an interdisciplinary Journal at the interface of pathology and oncology including the preclinical and translational research, diagnostics and therapy. Furthermore, POR is an international forum for the rapid communication of reviews, original research, critical and topical reports with excellence and novelty. Published quarterly, POR is dedicated to keeping scientists informed of developments on the selected biomedical fields bridging the gap between basic research and clinical medicine. It is a special aim for POR to promote pathological and oncological publishing activity of colleagues in the Central and East European region. The journal will be of interest to pathologists, and a broad range of experimental and clinical oncologists, and related experts. POR is supported by an acknowledged international advisory board and the Arányi Fundation for modern pathology.
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