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首页> 外文期刊>The Canadian Journal of Neurological Sciences: le Journal Canadien des Sciences Neurologiques >P.099 Integrating DNA methylation profiling in brain tumour diagnosis directly changes patient oncological care
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P.099 Integrating DNA methylation profiling in brain tumour diagnosis directly changes patient oncological care

机译：P.099将DNA甲基化分析在脑肿瘤诊断中直接改变患者肿瘤诊断

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Background: Molecular signatures are being increasing used to classify central nervous system (CNS) tumors with incorporation into World Health Organization (WHO) classifications. A recently published genome-wide DNA methylation-based CNS tumor classifier assisted in diagnostically challenging cases. However its impact on patient care has not been reported, limiting translation to other centres. Methods: All 55 challenging CNS tumour diagnoses over three years underwent DNA methylation profiling. Tumor classification along with copy number variant (CNV) plot results were integrated with histopathological findings to determine final diagnoses and corresponding clinical impact was assessed. Results: After methylation profiling 46/55 (84%) received clinically relevant diagnostic changes, 30 (55%) with a new diagnosis or resolved differential diagnosis and 16 (29%) with clinically important molecular diagnostic or subtyping changes. WHO grade changed in 15 (27%), with two-thirds upgraded. Nine new IDH mutations in gliomas, four new molecular subtypes in medulloblastomas/ependymomas, and three false positive 1p/19q codeletions were identified. Patient care was directly changed by methylation profiling in 7/47 (15%) followed-up cases to avoid unnecessary treatment in three, insufficient treatment in three, and medically assisted death in one. Conclusions: This real-world use of methylation-based CNS tumor classification substantially impacts patient care for diagnostically challenging tumors and also avoids misdiagnosis-related uncessary resource use.
机译：背景：分子签名正在增加用于对世界卫生组织（世卫组织）分类进行分类中枢神经系统（CNS）肿瘤。最近公开的基于基因组的基于DNA甲基化的CNS肿瘤分类器，辅助诊断挑战性案例。然而，它没有报告其对患者护理的影响，限制了其他中心的翻译。方法：所有55个挑战性CNS肿瘤诊断三年后诊断DNA甲基化分析。肿瘤分类以及拷贝数变体（CNV）绘图结果与组织病理学发现一体化以确定最终诊断和相应的临床影响。结果：在甲基化分析46/55（84％）接受临床相关的诊断变化，30（55％），具有新的诊断或解决的差异诊断和16（29％），具有临床重要的分子诊断或亚型变化。世卫组织级别在15（27％）中发生变化，升级了三分之二。九种新型IDH突变在胶质瘤中，鉴定了四种新的Medulloomas / Enencomomas中的新分子亚型，并确定了三种假阳性1p / 19qcepetrive。通过7/47（15％）的甲基化分析直接改变病人护理，以避免在三种情况下进行不必要的治疗，三个，三个治疗不足，医学辅助死亡。结论：这种真实世界使用基于甲基化的CNS肿瘤分类显着影响患者治疗诊断症状肿瘤，并避免了与误诊相关的非营利资源使用。

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