Supratentorial neuroepithelial tumor with PLAGL1 gene fusion — a new type of morphologically variable pediatric brain neoplasm defined by a distinct DNA methylation class. A case report and literature review

Kopachev D.N.

Research Institute for Emergency Pediatric Surgery and Traumatology;
Neurology Research Center

ORCID: 0000-0002-5501-9062

Ryzhova M.V.

Burdenko Neurosurgical Center

ORCID: 0000-0001-7206-6365

Kislyakov A.N.

Morozov Children’s Clinical Hospital

ORCID: 0000-0001-8735-4909

Shaikhaev E.G.

Burdenko Neurosurgical Center

ORCID: 0000-0002-7882-2579

Zheludkova O.G.

Voyno-Yasenetsky Practical Center for Specialized Medical Care for Children

ORCID: 0000-0002-8607-3635

Kumirova E.V.

Morozov Children’s Clinical Hospital

ORCID: 0000-0001-6125-2410

Meshcheryakov S.V.

Research Institute for Emergency Pediatric Surgery and Traumatology

ORCID: 0000-0003-3701-4628

Vlasov P.A.

Burdenko Neurosurgical Center

ORCID: 0000-0003-2381-8609

Shkatova A.M.

Burdenko Neurosurgical Center

ORCID: 0000-0003-4957-4286

Semenova Zh.B.

Research Institute for Emergency Pediatric Surgery and Traumatology

ORCID: 0000-0002-2018-050X

Gushcha A.O.

Neurology Research Center

ORCID: 0000-0003-3451-5750

Supratentorial neuroepithelial tumor with PLAGL1 gene fusion — a new type of morphologically variable pediatric brain neoplasm defined by a distinct DNA methylation class. A case report and literature review

Authors:

Kopachev D.N., Ryzhova M.V., Kislyakov A.N., Shaikhaev E.G., Zheludkova O.G., Kumirova E.V., Meshcheryakov S.V., Vlasov P.A., Shkatova A.M., Semenova Zh.B., Gushcha A.O.

More about the authors

Journal: Burdenko's Journal of Neurosurgery. 2024;88(2): 62‑68

DOI: 10.17116/neiro20248802162

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To cite this article:

Kopachev DN, Ryzhova MV, Kislyakov AN, et al. . Supratentorial neuroepithelial tumor with PLAGL1 gene fusion — a new type of morphologically variable pediatric brain neoplasm defined by a distinct DNA methylation class. A case report and literature review. Burdenko's Journal of Neurosurgery. 2024;88(2):62‑68. (In Russ., In Engl.)
https://doi.org/10.17116/neiro20248802162

Подписка 2025 (Burdenko's Journal of Neurosurgery)

Использование инфографики авторами научных работ

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BACKGROUND

Methylation analysis has become a powerful diagnostic tool in modern neurooncology. This technique is valuable to diagnose new brain tumor types.

OBJECTIVE

To describe the MRI and histological pattern of neuroepithelial tumor with PLAGL1 gene fusion.

MATERIAL AND METHODS

We present a 6-year-old patient with small right frontal intraaxial tumor causing drug resistant epilepsy. Despite indolent preoperative clinical course and MRI features suggesting glioneuronal tumor, histological evaluation revealed characteristics of high-grade glioma, ependymoma and neuroblastoma.

RESULTS

Methylation analysis of tumor DNA confirmed a new type of a recently discovered neoplasm — neuroepithelial tumor with PLAGL1 fusion (NET PLAGL1). PCR confirmed fusion of PLAGL1 and EWSR1 genes. No seizures were observed throughout the follow-up period. There was no tumor relapse a year after surgery.

CONCLUSION

Methylation analysis in neurooncology is essential for unclear tumor morphology or divergence between histological and clinical data. In our case, this technique confirmed benign nature of tumor, and we preferred follow-up without unnecessary adjuvant treatment.

Keywords:

PLAG1

methylation analysis

neurooncology

glioneuronal tumor

Authors:

Kopachev D.N.

Research Institute for Emergency Pediatric Surgery and Traumatology;
Neurology Research Center

ORCID: 0000-0002-5501-9062

Ryzhova M.V.

Burdenko Neurosurgical Center

ORCID: 0000-0001-7206-6365

Kislyakov A.N.

Morozov Children’s Clinical Hospital

ORCID: 0000-0001-8735-4909

Shaikhaev E.G.

Burdenko Neurosurgical Center

ORCID: 0000-0002-7882-2579

Zheludkova O.G.

Voyno-Yasenetsky Practical Center for Specialized Medical Care for Children

ORCID: 0000-0002-8607-3635

Kumirova E.V.

Morozov Children’s Clinical Hospital

ORCID: 0000-0001-6125-2410

Meshcheryakov S.V.

Research Institute for Emergency Pediatric Surgery and Traumatology

ORCID: 0000-0003-3701-4628

Vlasov P.A.

Burdenko Neurosurgical Center

ORCID: 0000-0003-2381-8609

Shkatova A.M.

Burdenko Neurosurgical Center

ORCID: 0000-0003-4957-4286

Semenova Zh.B.

Research Institute for Emergency Pediatric Surgery and Traumatology

ORCID: 0000-0002-2018-050X

Gushcha A.O.

Neurology Research Center

ORCID: 0000-0003-3451-5750

Received:

27.10.2023

Accepted:

12.01.2024

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