胶质瘤的分子检测:常规临床实践中需要什么?

IF 4.7 2区 医学 Q1 ONCOLOGY Current Oncology Reports Pub Date : 2024-11-01 Epub Date: 2024-10-03 DOI:10.1007/s11912-024-01602-w
Iyad Alnahhas
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引用次数: 0

摘要

综述的目的:一些分子特征对于胶质瘤的准确诊断和预后至关重要:2021年世界卫生组织对脑肿瘤的分类以及最近美国食品和药物管理局(FDA)对病理不可知药物的批准,凸显了分子检测在胶质瘤治疗中的重要性。对于弥漫性胶质瘤,鉴于其良好的临床表现以及在不久的将来使用美国食品与药物管理局(FDA)批准的IDH抑制剂的可能性,鉴别IDH突变非常重要。MGMT 启动子甲基化检测是 IDH 野生型胶质母细胞瘤对替莫唑胺反应的最可靠分子标志物,进而影响总生存率。此外,对某些突变和分子标记的鉴定,如 BRAF V600E、高突变或肿瘤突变负荷升高以及 NTRK 融合,可以使用 FDA 批准的具有肿瘤诊断功能的药物。最后,分子检测为临床试验提供了选择,这对治疗方案有限的疾病(如胶质瘤)至关重要。
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Molecular Testing in Gliomas: What is Necessary in Routine Clinical Practice?

Purpose of review: A number of molecular characteristics are essential for accurate diagnosis and prognostication in glioma.

Recent findings: The 2021 WHO classification of brain tumors and recent Food and Drug Administration (FDA) pathology agnostic drug approvals highlight the importance of molecular testing in the management of glioma. For diffuse gliomas, it is important to identify IDH mutations, given the favorable clinical behavior and potential for using FDA approved IDH inhibitors in the near future. MGMT promoter methylation testing is the most established molecular marker for response to temozolomide in IDH wild-type glioblastoma and in turn impacts overall survival. Moreover, identification of certain mutations and molecular markers, such as BRAF V600E, hypermutation or elevated tumor-mutational burden and NTRK fusions allow for the use of FDA approved agents that are tumor-agnostic. Finally, molecular testing opens options for clinical trials that are essential for diseases with limited treatment options like gliomas.

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来源期刊
CiteScore
8.50
自引率
0.00%
发文量
187
审稿时长
6-12 weeks
期刊介绍: This journal aims to review the most important, recently published clinical findings in the field of oncology. By providing clear, insightful, balanced contributions by international experts, the journal intends to serve all those involved in the care of those affected by cancer. We accomplish this aim by appointing international authorities to serve as Section Editors in key subject areas, such as cancer prevention, leukemia, melanoma, neuro-oncology, and palliative medicine. Section Editors, in turn, select topics for which leading experts contribute comprehensive review articles that emphasize new developments and recently published papers of major importance, highlighted by annotated reference lists. An international Editorial Board reviews the annual table of contents, suggests articles of special interest to their country/region, and ensures that topics are current and include emerging research. Commentaries from well-known figures in the field are also provided.
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