Sarcoma with BCOR gene alterations (BCOR-ITD) of the L3 vertebra in an 8-year-old boy

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Abstract

In the 2020 World Health Organization classification, for the first time, three new groups of tumors were formalized, initially isolated from the group of undifferentiated round cell sarcomas, the so-called Ewing-like sarcomas, namely sarcoma with BCOR genetic alterations, CIC-rearranged sarcoma and sarcomas with EWSR1 gene rearrangement with atypical (non-ETS family) partner genes. This review will focus on sarcoma with BCOR genetic alterations, which will be illustrated by one of our clinical case, characterized by relatively typical features, both in terms of morphological presentation and immunophenotype, and in terms of biological behavior and response to tumor therapy. The patient's parents gave their consent to the use of their child's data, including photographs, for research purposes and in publications.

About the authors

I. V. Sidorov

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

Author for correspondence.
Email: ilya93sidorov@gmail.com
ORCID iD: 0000-0001-8578-6572

Ilya V. Sidorov, a pathologist at the Department of Anatomic Pathologic

1 Samory Mashela St., 117997, Moscow, Russia

Russian Federation

A. S. Fedorova

Lomonosov Moscow State University

ORCID iD: 0000-0002-4699-1730

Moscow

Russian Federation

N. P. Makarova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-3387-3567

Moscow

Russian Federation

E. I. Konopleva

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-6848-8714

Moscow

Russian Federation

A. S. Sharlai

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-5354-7067

Moscow

Russian Federation

A. V. Panferova

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0002-8580-3499

Moscow

Russian Federation

A. E. Druy

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0003-1308-8622

Moscow

Russian Federation

D. M. Konovalov

Dmitry Rogachev National Medical Research Center of Pediatric Hematology, Oncology and Immunology of Ministry of Healthcare of the Russian Federation

ORCID iD: 0000-0001-7732-8184

Moscow

Russian Federation

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Copyright (c) 2022 Sidorov I.V., Fedorova A.S., Makarova N.P., Konopleva E.I., Sharlai A.S., Panferova A.V., Druy A.E., Konovalov D.M.

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This work is licensed under a Creative Commons Attribution 4.0 International License.