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AIGS实时荧光定量PCR在脑膜瘤精准诊疗中的首例前瞻性应用:病例报告

The first prospective application of AIGS real-time fluorescence PCR in precise diagnosis and treatment of meningioma: Case report.

作者信息

Han Zhe, Chi Huizhong, Li Xueen, Jia Deze, Li Haiyan, Ni Shilei, Zhang Kailiang, Feng Zichao, Wang Qingtong, Xue Hao, Li Gang

机构信息

Department of Neurosurgery, Qilu Hospital, Cheeloo College of Medicine, Shandong University, Jinan, Shandong, China.

Institute of Brain and Brain-Inspired Science, Shandong University, Jinan, Shandong, China.

出版信息

Front Neurosci. 2023 Apr 13;17:1158601. doi: 10.3389/fnins.2023.1158601. eCollection 2023.

DOI:10.3389/fnins.2023.1158601
PMID:37123372
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10133491/
Abstract

BACKGROUND

The emergence of the new WHO classification standard in 2021 incorporated molecular characteristics into the diagnosis system for meningiomas, making the diagnosis and treatment of meningiomas enter the molecular era.

RECENT FINDINGS

At present, there are still some problems in the clinical molecular detection of meningioma, such as low attention, excessive detection, and a long cycle. In order to solve these clinical problems, we realized the intraoperative molecular diagnosis of meningioma by combining real-time fluorescence PCR and AIGS, which is also the first known product applied to the intraoperative molecular diagnosis of meningioma.

IMPLICATIONS FOR PRACTICE

We applied AIGS to detect and track a patient with TERTp mutant meningioma, summarized the process of intraoperative molecular diagnosis, and expounded the significance of intraoperative molecular diagnosis under the new classification standard, hoping to optimize the clinical decision-making of meningioma through the diagnosis and treatment plan of this case.

摘要

背景

2021年世界卫生组织新分类标准的出现将分子特征纳入脑膜瘤诊断系统,使脑膜瘤的诊断和治疗进入分子时代。

最新发现

目前,脑膜瘤临床分子检测仍存在一些问题,如重视程度不够、检测过度、周期长等。为解决这些临床问题,我们通过实时荧光定量聚合酶链反应(PCR)与人工智能基因组测序(AIGS)相结合实现了脑膜瘤术中分子诊断,这也是已知首个应用于脑膜瘤术中分子诊断的产品。

对实践的启示

我们应用AIGS检测并追踪1例端粒酶逆转录酶启动子(TERTp)突变型脑膜瘤患者,总结术中分子诊断过程,并阐述新分类标准下术中分子诊断的意义,希望通过该病例的诊疗方案优化脑膜瘤的临床决策。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9003/10133491/bcdbcb72b3fa/fnins-17-1158601-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9003/10133491/ec0ea1620575/fnins-17-1158601-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9003/10133491/3114ca494924/fnins-17-1158601-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9003/10133491/bcdbcb72b3fa/fnins-17-1158601-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9003/10133491/ec0ea1620575/fnins-17-1158601-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9003/10133491/3114ca494924/fnins-17-1158601-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9003/10133491/bcdbcb72b3fa/fnins-17-1158601-g003.jpg

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本文引用的文献

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Neurosurgery. 2023 Apr 1;92(4):762-771. doi: 10.1227/neu.0000000000002260. Epub 2022 Dec 13.
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One-step nucleic acid amplification for intraoperative diagnosis of lymph node metastasis in lung cancer patients: a single-center prospective study.一步法核酸扩增在肺癌患者淋巴结转移术中诊断中的应用:一项单中心前瞻性研究。
Sci Rep. 2022 May 4;12(1):7297. doi: 10.1038/s41598-022-11064-4.
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CBTRUS Statistical Report: Primary Brain and Other Central Nervous System Tumors Diagnosed in the United States in 2014-2018.
美国 2014-2018 年诊断的原发性脑和其他中枢神经系统肿瘤 CBTRUS 统计报告。
Neuro Oncol. 2021 Oct 5;23(12 Suppl 2):iii1-iii105. doi: 10.1093/neuonc/noab200.
4
The 2021 WHO Classification of Tumors of the Central Nervous System: a summary.2021 年世卫组织中枢神经系统肿瘤分类:概述。
Neuro Oncol. 2021 Aug 2;23(8):1231-1251. doi: 10.1093/neuonc/noab106.
5
EANO guideline on the diagnosis and management of meningiomas.EANO 指南:脑膜瘤的诊断与管理。
Neuro Oncol. 2021 Nov 2;23(11):1821-1834. doi: 10.1093/neuonc/noab150.
6
Associations of meningioma molecular subgroup and tumor recurrence.脑膜瘤分子亚组与肿瘤复发的关联。
Neuro Oncol. 2021 May 5;23(5):783-794. doi: 10.1093/neuonc/noaa226.
7
KLF4-mutated meningiomas show enhanced hypoxia signaling and respond to mTORC1 inhibitor treatment.KLF4 突变型脑膜瘤表现出增强的缺氧信号,并对 mTORC1 抑制剂治疗有反应。
Acta Neuropathol Commun. 2020 Apr 3;8(1):41. doi: 10.1186/s40478-020-00912-x.
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Poor prognosis associated with TERT gene alterations in meningioma is independent of the WHO classification: an individual patient data meta-analysis.TERT 基因突变与脑膜瘤不良预后相关,与世界卫生组织分级无关:一项基于个体患者数据的荟萃分析。
J Neurol Neurosurg Psychiatry. 2020 Apr;91(4):378-387. doi: 10.1136/jnnp-2019-322257. Epub 2020 Feb 10.
9
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J Neurol Surg B Skull Base. 2019 Dec;80(6):562-567. doi: 10.1055/s-0038-1676821. Epub 2019 Jan 10.
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J Neurooncol. 2019 Mar;142(1):1-10. doi: 10.1007/s11060-018-03067-x. Epub 2018 Dec 1.