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

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

Abstract

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

About the Authors

E. V. Kumirova
Morozovskaya Children’s Clinical Hospital, Department of Health in Moscow; Russian Scientific Center of Roentgenoradiology, Ministry of Health of Russia; N.N. Blokhin National Medical Research Centre of Oncology, Ministry of Health of Russia
Russian Federation

Dr. of Sci. (Med.), Pediatric Oncologist, Deputy Chief Physician for Oncology; Chief Lead Officer; Scientific Consultant Research Institute of Pediatric Oncology and Hematology

1/9 4th Dobryninskiy Per., Moscow, 119049

86 Profsoyuznaya St., Moscow, 117977

23 Kashirskoe Shosse, Moscow, 115478



S. S. Ozerov
Morozovskaya Children’s Clinical Hospital, Department of Health in Moscow
Russian Federation

of Sci. (Med.), Neurosurgeon

1/9 4th Dobryninskiy Per., Moscow, 119049



M. V. Ryzhova
N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia
Russian Federation

Dr. of Sci. (Med.), Professor, Head of the Pathology Department

16 4th Tverskaya-Yamskaya St., Moscow, 125047



D. M. Konovalov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Head of the Pathology Department

1 Samory Mashela St., Moscow, 117997



A. P. Shekhtman
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation

Pathologist Pathology Department

1 Samory Mashela St., Moscow, 117997



V. V. Emtsova
Morozovskaya Children’s Clinical Hospital, Department of Health in Moscow
Russian Federation

Pediatric Oncologist at the Center for Outpatient Cancer Care

1/9 4th Dobryninskiy Per., Moscow, 119049



Yu. V. Vyazova
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation

Junior Researcher

1 Samory Mashela St., Moscow, 117997



M. M. Andrianov
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation

Roentgenologist Radiological Department

1 Samory Mashela St., Moscow, 117997



E. V. Abbasova
Morozovskaya Children’s Clinical Hospital, Department of Health in Moscow
Russian Federation

Cand. of Sci. (Med.), Pediatric Oncologist

1/9 4th Dobryninskiy Per., Moscow, 119049



A. A. Gvozdev
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation

Roentgenologist Radiological Department

1 Samory Mashela St., Moscow, 117997



Sh. U. Kadyrov
N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Neurosurgeon

16 4th Tverskaya-Yamskaya St., Moscow, 125047



A. L. Karmanov
Republican Children’s Clinical Hospital
Russian Federation

Pediatric Oncologist

73 Lenina St., Syktyvkar, Republic of Komi, 167981



Yu. V. Kushel
N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia
Russian Federation

Dr. of Sci. (Med.), Professor, Leading Researcher

16 4th Tverskaya-Yamskaya St., Moscow, 125047



A. V. Nechesnyuk
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Radiologist, Head of the Radiation Therapy Department

1 Samory Mashela St., Moscow, 117997



O. I. Pushkarev
Republican Children’s Clinical Hospital
Russian Federation

Head of the Children’s Surgical Department

124 Kommunisticheskiy Prosp., Gorno-Altaisk, Republic of Altai, 649002



A. P. Shapochnik
Orenburg Regional Clinical Oncology Hospital; Orenburg State Medical University, Ministry of Health of Russia
Russian Federation

Cand. of Sci. (Med.), Head of the Pediatric Oncology Department; Assistant of the Department of Radiation Diagnostics, Radiation Therapy and Oncology

11 Prosp. Gagarina, Orenburg, 460021

6 Sovetskaya St., Orenburg, 460000



A. V. Shtukert
E.N. Meshalkin National Medical Research Center, Ministry of Health of Russia
Russian Federation

Pediatric Oncologist

15 Rechkunovskaya St., Novosibirsk, 630055



M. B. Belogurova
Saint-Petersburg Clinical Scientific and Practical Center for Specialised Types of Medical Care (Oncological)
Russian Federation

Dr. of Sci. (Med.), Professor, Head of the Department of Chemotherapy and Combined Treatment of Tumors in Children

SPIN-code: 2627-4152

68А Leningradskaya St., Pesochny, Saint Petersburg, 197758



O. I. Shеrbenko
Russian Scientific Center of Roentgenoradiology, Ministry of Health of Russia
Russian Federation

Dr. Sci. (Med.), Professor, Head of Scientific and Organizational Department

86 Profsoyuznaya St., Moscow, 117977



A. G. Rumyantsev
Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology, Ministry of Health of Russia
Russian Federation

Academician of the Russian Academy of Sciences, Dr. of Sci. (Med.), Professor, Scientific Director

SPIN-code: 2227-6305

1 Samory Mashela St., Moscow, 117997



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For citations:


Kumirova E.V., Ozerov S.S., Ryzhova M.V., Konovalov D.M., Shekhtman A.P., Emtsova V.V., Vyazova Yu.V., Andrianov M.M., Abbasova E.V., Gvozdev A.A., Kadyrov Sh.U., Karmanov A.L., Kushel Yu.V., Nechesnyuk A.V., Pushkarev O.I., Shapochnik A.P., Shtukert A.V., Belogurova M.B., Shеrbenko O.I., Rumyantsev A.G. Rare embryonic tumor of the central nervous system – neuroblastoma with FOXR2-activation. Russian Journal of Pediatric Hematology and Oncology. 2022;9(2):11-21. (In Russ.) https://doi.org/10.21682/2311-1267-2022-9-2-11-21

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