Englert Benjamin, Roeber Sigrun, Arzberger Thomas, Ruf Viktoria, Windl Otto, Herms Jochen
Center for Neuropathology and Prion Research, Faculty of Medicine, LMU Munich, Munich, Germany.
German Center for Neurodegenerative Diseases (DZNE), Munich, Germany.
Free Neuropathol. 2024 Aug 6;5:16. doi: 10.17879/freeneuropathology-2024-5643. eCollection 2024 Jan.
The diagnostic of individuals having suffered presumptive neurodegenerative disease comprises exclusion of a prion disease, extensive brain sampling and histopathological evaluation, which are resource-intensive and time consuming. To exclude prion disease and to achieve prompt accurate preliminary diagnosis, we developed a fast-track procedure for the histopathological assessment of brains from patients with suspected neurodegenerative disease. Based on the screening of two brain regions (frontal cortex and cerebellum) with H&E and six immunohistochemical stainings in 133 brain donors, a main histopathological diagnosis was established and compared to the final diagnosis made after a full histopathological work-up according to our brain bank standard procedure. In over 96 % of cases there was a concordance between the fast-track and the final main neuropathological diagnosis. A prion disease was identified in four cases without prior clinical suspicion of a prion infection. The fast-track screening approach relying on two defined, easily accessible brain regions is sufficient to obtain a reliable tentative main diagnosis in individuals with neurodegenerative disease and thus allows for a prompt feedback to the physicians. However, a more thorough histological work-up taking into account the clinical history and the working diagnosis from fast-track screening is necessary for accurate staging and for assessment of co-pathologies.
对疑似患有神经退行性疾病的个体进行诊断,包括排除朊病毒病、进行广泛的脑样本采集和组织病理学评估,这些都需要大量资源且耗时。为了排除朊病毒病并实现快速准确的初步诊断,我们开发了一种快速程序,用于对疑似神经退行性疾病患者的大脑进行组织病理学评估。基于对133名脑捐赠者的两个脑区(额叶皮质和小脑)进行苏木精-伊红染色(H&E)和六种免疫组织化学染色的筛查,确立了主要组织病理学诊断,并与根据我们脑库标准程序进行全面组织病理学检查后得出的最终诊断进行比较。在超过96%的病例中,快速程序诊断与最终主要神经病理学诊断一致。在四例之前临床未怀疑朊病毒感染的病例中确诊为朊病毒病。基于两个明确且易于获取的脑区的快速筛查方法足以在患有神经退行性疾病的个体中获得可靠的初步主要诊断,从而能够迅速向医生反馈。然而,为了进行准确分期和评估合并症,需要结合临床病史和快速筛查的初步诊断进行更全面的组织学检查。