Background: 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.
Objective: To develop a set of molecular genetic tests based on real-time PCR to verify supratentorial ependymomas.
Material And Methods: 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).
Results: 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.
Conclusion: 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.
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http://dx.doi.org/10.17116/patol2023850315 | DOI Listing |
Proc Natl Acad Sci U S A
January 2025
Department of Radiation Oncology, Massachusetts General Hospital and Harvard Medical School, Boston, MA 02114.
Ependymoma (EPN) is a common form of brain tumor in children, often resistant to available cytotoxic therapies. Molecular profiling studies have led to a better understanding of EPN subtypes and revealed a critical role of oncogenes ZFTA-RELA fusion and EPHB2 in supratentorial ependymoma (ST-EPN). However, the immune system's role in tumor progression and response to therapy remains poorly understood.
View Article and Find Full Text PDFWorld J Clin Cases
January 2025
Anshan Cancer Hospital, Anshan 114000, Liaoning Province, China.
Background: Ependymoma with lipomatous differentiation is a rare type of ependymoma. The ZFTA fusion-positive supratentorial ependymoma is a novel tumor type in the 2021 World Health Organization classification of central nervous system tumors. ZFTA fusion-positive lipomatous ependymoma has not been reported to date.
View Article and Find Full Text PDFActa Neuropathol Commun
January 2025
Hopp Children's Cancer Center Heidelberg (KiTZ), Heidelberg, Germany.
Recent genomic studies have allowed the subdivision of intracranial ependymomas into molecularly distinct groups with highly specific clinical features and outcomes. The majority of supratentorial ependymomas (ST-EPN) harbor ZFTA-RELA fusions which were designated, in general, as an intermediate risk tumor variant. However, molecular prognosticators within ST-EPN ZFTA-RELA have not been determined yet.
View Article and Find Full Text PDFJ Neurooncol
January 2025
Michael Rice Centre for Hematology and Oncology, Women's and Children's Hospital, Adelaide, SA, Australia.
Ependymoma is the third most common brain tumour of childhood and historically has posed a major challenge to both pediatric and adult neuro-oncologists. Ependymoma can occur anywhere in the central nervous system throughout the entire age spectrum. Treatment options have been limited to surgery and radiation, and outcomes have been widely disparate across studies.
View Article and Find Full Text PDFFront Neurol
November 2024
Division of Neurology, McMaster University, Hamilton, ON, Canada.
Polymorphous low-grade neuroepithelial tumor of the young (PLNTY) is a rare central nervous system (CNS) pathology predominantly observed in the pediatric population. Ependymomas also exhibit a peak incidence in early childhood, with rare presentations after early adulthood. In this report, we describe a rare case of a 41-year-old man diagnosed sequentially with a polymorphous low-grade neuroepithelial tumor of the young, followed by a supratentorial ependymoma within a year.
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