Rare embryonic tumor of the central nervous system – neuroblastoma with FOXR2-activation

نویسندگان

چکیده

Introduction . The development of technologies for molecular genetic typing tumors the central nervous system (CNS) has significantly increased specificity traditional histological and immunohistochemical research methods. As a result, completely new variants have appeared, as well improved results treatment with long-term favorable prognosis. Thanks to biomarkers, among morphologically similar small-cell embryonic CNS tumors, extremely rare been identified: ETMR (embryonic tumor multiple rosettes C19MC), NB-FOXR2 (CNS neuroblastoma (NB) FOXR2-activation), EFT-CIC (tumor sarcoma family alteration), HGNET-MN1 (neuroepithelial high grade MN1 HGNET-BCOR BCOR alteration). aim study was assess historical prerequisites emergence nosological form “CNS NB FOXR2- activation”, presentation own diagnostics children this tumor. Materials methods diagnosis 7 patients FOXR2-activation were studied. Tumor identification carried out using DNA methylation technique profiles Heidelberg (Germany) brain classifier (www.molecularneuropathology.org), which recently become available in Russia. Results discussion Based on review international experience, evolution appearance classification clinical features are presented. authors present their FOXR2-activation. Conclusion Biomarkers proposed differential PNET-like children. Due children, it became clear that such patients, provided protocol is adequately followed, quite satisfactory survival results.

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ژورنال

عنوان ژورنال: Rossijskij žurnal detskoj gematologii i onkologii

سال: 2022

ISSN: ['2413-5496', '2311-1267']

DOI: https://doi.org/10.21682/2311-1267-2022-9-2-11-21