Embryonal tumor of the central nervous system with PLAGL1 amplification: a case report and literature review
L. V. Olkhova,
O. G. Zheludkova,
M. V. Ryzhova,
Yu. V. Kushel,
L. V. Shishkina,
P. A. Romanov,
T. V. Postnikova https://doi.org/10.21682/2311-1267-2025-12-3-85-94
Abstract
Embryonal tumor of the central nervous system (CNS) with PLAGL1/PLAGL2 amplification is a new type of CNS tumors in children, first described in 2023. They can be localized in any part of the CNS and, as their name suggests, are caused by the amplification of genes of the PLAG family. At present, this tumor is not yet defined as a separate type in the latest edition of the WHO classification in 2021. In the foreign literature, 27 cases of embryonal tumors of the CNS with PLAGL1 and PLAGL2 amplification in children have been described. A single standard of therapy has not yet been developed; the optimal treatment method is resection of the tumor, as well as polychemotherapy in combination with radiation therapy.
This article presents a clinical case of a 2.5-year-old girl with an embryonal tumor with PLAGL1 amplification, describes in detail the treatment tactics and presents an analysis of cases previously described in international literature.
Supporting agencies: The study was performed without external funding
About the Authors
L. V. Olkhova
Russian Children’s Clinical Hospital – Branch of the N.I. Pirogov Russian National Research Medical University, Ministry of Health of Russia
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Pediatric Oncologist Department of Bone Marrow Transplantation, Russian Children’s Clinical Hospital – Branch of the N.I. Pirogov Russian National Research Medical University of Ministry of Health of Russia.
117 Leninskiy Prosp., Moscow, 119571
O. G. Zheludkova
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children; Diagnostic and Treatment Center of International Institution for Biological Systems named after Sergey Berezin
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Professor, Expert of the Higher Attestation Commission on Pediatric Neuro-Oncology, Chief Researcher of V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children, Pediatric Oncologist DTC IIBS named after S. Berezin.
38 Aviatorov St., Moscow, 119620; Bldg. 3, 2 Yesenin St., S.-Petersburg, 194354
M. V. Ryzhova
N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Head of the Pathology Department.
16 4th Tverskaya-Yamskaya St., Moscow, 125047
Yu. V. Kushel
N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia
Russian Federation
Russian Federation
Dr. of Sci. (Med.), Professor, Neurosurgeon of 2nd Children Neurosurgical Department.
16 4th Tverskaya-Yamskaya St., Moscow, 125047
L. V. Shishkina
N.N. Burdenko National Medical Research Center of Neurosurgery, Ministry of Health of Russia
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Pathologist Pathology Department.
16 4th Tverskaya-Yamskaya St., Moscow, 125047
P. A. Romanov
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
Cand. of Sci. (Med.), Head of the Pathology Department.
38 Aviatorov St., Moscow, 119620
T. V. Postnikova
V.F. Voyno-Yasenetsky Scientific and Practical Center of Specialized Medical Care for Children
Russian Federation
Russian Federation
Pediatric Oncologist 2nd Oncology Department of the Scientific and Practical Center for Specialized Medical Care for Children named after V.F. Voyno-Yasenetsky Moscow Healthcare Department.
38 Aviatorov St., Moscow, 119620
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For citations:
Olkhova L.V., Zheludkova O.G., Ryzhova M.V., Kushel Yu.V., Shishkina L.V., Romanov P.A., Postnikova T.V. Embryonal tumor of the central nervous system with PLAGL1 amplification: a case report and literature review. Russian Journal of Pediatric Hematology and Oncology. 2025;12(3):85-94. (In Russ.) https://doi.org/10.21682/2311-1267-2025-12-3-85-94
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