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发展中国家中枢神经系统瘤的分子分类:病理学参考实验室的挑战,机遇和可行性

Igor Lima Fernandes, Zied Abdullaev, Martha Quezado

Archives of pathology & laboratory medicine

|February 11, 2026

概括

甲基化分析提升了中枢神经系统 (CNS) 瘤诊断,提高了病例的准确性和重新分类. 在资源有限的环境中实施需要成本效益和工作流的优化,以获得更广泛的实用性.

科学领域:

神经病理学神经病理学
分子诊断学分子诊断学
在瘤学瘤学.

背景情况:

中枢神经系统 (CNS) 瘤诊断越来越依赖于分子分类,正如世卫组织中枢神经系统瘤分类第5版所承认的那样.
复杂的分子技术,如DNA甲基化分析,至关重要,但在资源有限的医疗保健系统中存在实施挑战.

研究的目的:

评估在巴西参考实验室中对中枢神经系统瘤进行基于甲基化阵列分类的实施和实用性.
确定在资源有限的环境中精确的中枢神经系统瘤诊断的实际挑战和机会.

主要方法:

分析了319个中枢神经系统瘤病例,使用DNA甲基化分析.
根据甲基化结果,病例分为六个诊断类别的分层.
评估诊断影响,成本效益和周转时间.

主要成果:

在大多数情况下,DNA甲基化分析成功,而分析前的问题主要与DNA质量/数量有关.
对于大多数病例,分类器输出提供了可靠的诊断.
14.7%的病例产生了不确定的结果 ("不匹配"),需要进一步调查或替代测试.

结论:

DNA甲基化分析显著提高了诊断准确度,并有助于重新分类中枢神经系统瘤.
广泛采用需要证明成本效益,优化实验室工作流程和能力建设,特别是在低收入和中等收入国家.

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