Galstyan S A, Telysheva E N, Lavrinovich A O, Shaikhaev E G, Snigireva G P, Petrova E I, Gorelyshev S K, Zheludkova O G, Kushel Y V, Kumirova E V, Ryzhova M V
Burdenko Neurosurgical Center, Moscow, Russia.
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children, Moscow, Russia.
Arkh Patol. 2023;85(3):5-11. doi: 10.17116/patol2023850315.
Differential diagnosis of supratentorial ependymomas is of particular difficulty in neurooncology due to nonspecific clinical and radiographic findings, a rare seen «classic» morphological picture, and a nonspecific immunophenotype. Thanks to molecular genetic methods, in particular real-time PCR, it has become possible to verify supratentorial ependymomas and identify their molecular group, on which further prognosis depends.
To develop a set of molecular genetic tests based on real-time PCR to verify supratentorial ependymomas.
56 tissue samples were collected from patients with supratentorial ependymomas, WHO Grade II, and anaplastic ependymomas, WHO Grade III. We developed primers and fluorescent TaqMan probes for real-time PCR analysis to detect the , , , , and gene fusions. For immunohistochemical analysis, monoclonal rabbit anti-NF-kb p65 antibodies (HUABIO, China) were used, the study was carried out on AutostainerLink 48 immunostainer (DAKO, Denmark).
Real-time PCR was able to verify the diagnosis for 69.9% (=39) of samples and classify them into molecular groups of ZFTA- or YAP1-positive supratentorial ependymomas. Immunohistochemically it was possible to verify 58% (=29) ependymomas.
Diagnosis by real-time PCR is a relatively fast, accessible and easily interpreted method that allows verification of the molecular group in 70% of cases of supratentorial ependymomas without the use of additional methods.
由于非特异性的临床和影像学表现、罕见的“经典”形态学特征以及非特异性的免疫表型,幕上室管膜瘤的鉴别诊断在神经肿瘤学中极具难度。借助分子遗传学方法,尤其是实时荧光定量聚合酶链反应(real-time PCR),已能够对幕上室管膜瘤进行验证并确定其分子类型,而进一步的预后取决于此分子类型。
基于实时荧光定量聚合酶链反应(real-time PCR)开发一套分子遗传学检测方法以验证幕上室管膜瘤。
收集了56例幕上二级室管膜瘤和三级间变性室管膜瘤患者的组织样本。我们设计了用于实时荧光定量聚合酶链反应分析的引物和荧光TaqMan探针,以检测 、 、 、 和 基因融合。免疫组化分析采用单克隆兔抗NF-κB p65抗体(中国华生物),在AutostainerLink 48免疫染色仪(丹麦达科)上进行研究。
实时荧光定量聚合酶链反应(real-time PCR)能够对69.9%(=39)的样本进行诊断验证,并将它们分类为ZFTA或YAP1阳性的幕上室管膜瘤分子类型。免疫组化方法能够验证58%(=29)的室管膜瘤。
实时荧光定量聚合酶链反应(real-time PCR)诊断是一种相对快速、可及且易于解读的方法,无需使用其他额外方法即可在70%的幕上室管膜瘤病例中验证分子类型。