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Emerging glioneuronal and neuronal tumors: case-based review

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Abstract

Glioneuronal and neuronal tumors (GNTs) are rare heterogeneous central nervous system tumors characterized by slow growth and favorable outcomes, but are often associated with diagnostic difficulties. A thorough analysis of three rare and recently recognized GNTs was performed in the context of clinicopathological features and molecular genetic characterization. The current spinal diffuse leptomeningeal glioneuronal tumor (DLGNT) was characterized with oligodendroglioma-like tumor with chromosome 1p/19q codeletion without IDH mutations and KIAA1549:BRAF fusion. The current occipital multinodular and vacuolating neuronal tumor (MVNT) was characteristic of the variable-sized vague nodules consisted of gangliocytic tumor cells with intracytoplasmic and pericellular vacuolation and the next-generation sequencing (NGS) revealed MAP2K1 p.Q56_V60del. A diffuse glioneuronal tumor with oligodendroglioma-like features and nuclear clusters (DGONC) of the amygdala was characterized by oligodendroglia-like cells and nuclear clusters, and monosomy 14. From the current cases and literature review, we found that DLGNT commonly occurs in the spinal cord and can make mass and more commonly have KIAA1549:BRAF fusion; MVNT is a neoplasm rather than malformation and MAP2K1 deletion is one of the hallmarks of this tumor; although DGONC may require a methylation profile, we can reach a diagnosis through its unique histology, monosomy 14, and exclusion diagnosis without a methylation profile.

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Availability of data and materials (data transparency)

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Abbreviations

cIMPACT-NOW:

The Consortium to Inform Molecular and Practical Approaches to CNS Tumor Taxonomy

CNS:

Central nervous system

GFAP:

Glial fibrillary acidic protein

DGONC:

Diffuse glioneuronal tumor with oligodendroglioma-like cells and nuclear clusters

DLGNT:

Diffuse leptomeningeal glioneuronal tumor

DNET:

Dysembryoplastic neuroepithelial tumor

FIRST-brain tumor-targeted gene panel:

Friendly Integrated Research-based Smart Trustworthy

GNT:

Glioneuronal and neuronal tumor

MVNT:

Multinodular and vacuolating neuroepithelial tumor

WHO:

World Health Organization

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Acknowledgements

This work was supported by the Institute for Information and Communications Technology Promotion (IITP) grant funded by the Korean government (MSIP) (no. 2019-0567).

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Authors and Affiliations

  1. Department of Pathology, KonKuk University School of Medicine, Seoul, 05029, Republic of Korea

    So Dug Lim

  2. Department of Pathology, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea

    Seong Ik Kim, Jin Woo Park, Jae Kyung Won & Sung-Hye Park

  3. Department of Neurosurgery, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea

    Seung-Ki Kim, Ji Hoon Phi & Chun-Kee Chung

  4. Department of Radiology, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea

    Seung-Hong Choi

  5. Department of Genomic Medicine, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea

    Hongseok Yun

  6. Institute of Neuroscience, Seoul National University College of Medicine, Seoul, 03080, Republic of Korea

    Sung-Hye Park

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Contributions

SDL reviewed the cases and wrote the manuscript. S-KK, JHP, and C-KC carried out the operations and patient care. SIK and JWP collected clinicopathological data. HY prepared and analyzed NGS data. JKW reviewed the pathology. S-HP supervised this research and edited the manuscript.

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Correspondence to Sung-Hye Park.

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This study was approved from the IRB of Seoul National University Hospital (1906–020-1037) and was conducted under the Helsinki declaration.

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Because this study is a retrospective clinicopathological analysis using anonymized data, informed consent and publication consent were exempted by the Korean Bioethical and Safety Act.

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Lim, S.D., Kim, S.I., Park, J.W. et al. Emerging glioneuronal and neuronal tumors: case-based review. Brain Tumor Pathol 39, 65–78 (2022). https://doi.org/10.1007/s10014-021-00420-3

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