Horbinski Craig, Solomon David A, Lukas Rimas V, Packer Roger J, Brastianos Priscilla, Wen Patrick Y, Snuderl Matija, Berger Mitchel S, Chang Susan, Fouladi Maryam, Phillips Joanna J, Nabors Burt, Brat Daniel J, Huse Jason T, Aldape Kenneth, Sarkaria Jann N, Holdhoff Matthias, Burns Terry C, Peters Katherine B, Mellinghoff Ingo K, Arons David, Galanis Evanthia
Departments of Pathology and Neurological Surgery, Lou and Jean Malnati Brain Tumor Institute, Feinberg School of Medicine, Northwestern University, Chicago, Illinois.
UCSF Brain Tumor Center and Department of Pathology, University of California, San Francisco.
JAMA Oncol. 2025 Mar 1;11(3):317-328. doi: 10.1001/jamaoncol.2024.5506.
Molecular techniques, including next-generation sequencing, genomic copy number profiling, fusion transcript detection, and genomic DNA methylation arrays, are now indispensable tools for the workup of central nervous system (CNS) tumors. Yet there remains a great deal of heterogeneity in using such biomarker testing across institutions and hospital systems. This is in large part because there is a persistent reluctance among third-party payers to cover molecular testing. The objective of this Review is to describe why comprehensive molecular biomarker testing is now required for the accurate diagnosis and grading and prognostication of CNS tumors and, in so doing, to justify more widespread use by clinicians and coverage by third-party payers.
The 5th edition of the World Health Organization (WHO) classification system for CNS tumors incorporates specific molecular signatures into the essential diagnostic criteria for most tumor entities. Many CNS tumor types cannot be reliably diagnosed according to current WHO guidelines without molecular testing. The National Comprehensive Cancer Network also incorporates molecular testing into their guidelines for CNS tumors. Both sets of guidelines are maximally effective if they are implemented routinely for all patients with CNS tumors. Moreover, the cost of these tests is less than 5% of the overall average cost of caring for patients with CNS tumors and consistently improves management. This includes more accurate diagnosis and prognostication, clinical trial eligibility, and prediction of response to specific treatments. Each major group of CNS tumors in the WHO classification is evaluated and how molecular diagnostics enhances patient care is described.
Routine advanced multidimensional molecular profiling is now required to provide optimal standard of care for patients with CNS tumors.
分子技术，包括新一代测序、基因组拷贝数分析、融合转录本检测和基因组DNA甲基化阵列，现已成为中枢神经系统（CNS）肿瘤检查中不可或缺的工具。然而，在不同机构和医院系统中使用此类生物标志物检测仍存在很大差异。这在很大程度上是因为第三方支付方一直不愿涵盖分子检测。本综述的目的是描述为何现在中枢神经系统肿瘤的准确诊断、分级和预后需要全面的分子生物标志物检测，并借此证明临床医生应更广泛地使用以及第三方支付方应提供覆盖范围。
世界卫生组织（WHO）中枢神经系统肿瘤分类系统第5版将特定分子特征纳入了大多数肿瘤实体的基本诊断标准。根据目前的WHO指南，如果不进行分子检测，许多中枢神经系统肿瘤类型无法得到可靠诊断。美国国立综合癌症网络也将分子检测纳入了其中枢神经系统肿瘤指南。如果对所有中枢神经系统肿瘤患者常规实施这两套指南，它们将发挥最大效果。此外，这些检测的成本不到中枢神经系统肿瘤患者总体平均护理成本的5%，并持续改善管理。这包括更准确的诊断和预后、临床试验资格以及对特定治疗反应的预测。对WHO分类中的每一大类中枢神经系统肿瘤进行了评估，并描述了分子诊断如何改善患者护理。
现在需要常规进行先进的多维分子分析，以为中枢神经系统肿瘤患者提供最佳护理标准。
