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Diffuse leptomeningeal glioneuronal tumor without KIAA1549-BRAF fusion and 1p detection: a case report and review of literature

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Abstract

Background

Diffuse leptomeningeal glioneuronal tumor (DLGNT) is a rare mixed neuronal-glial tumor of central nervous system. Chromosome microarray usually identifies co-deletion of the short arm of chromosome 1 and the long arm of chromosome 19 as well as fusion of the KIAA1549 and BRAF genes.

Methods

We describe a case of a 3-year-old boy with typical imaging and histopathological features, but without KIAA1549-BRAF fusion and 1p deletion. Additionally, a literature review is performed summarizing the clinical features, management, and prognosis of this rare entity.

Results

A 3-year-old boy presented with chronic headache and vomiting. On initial MRI scanning, diffuse thickening with enhancement of the cerebral and spinal leptomeninges could be detected after contrast injection. Multiple cystic lesions were found located on infratentorial leptomeninges, with progressive thickening of leptomeninges and increasing cysts on follow-up MRI after 9 months. Meningeal biopsy was carried out, showing that most of tumor cells were composed of oligodendroglioma-like cells. The tumor cells were immunopositive for GFAP, Olig-2, and synaptophysin but negative for IDH-1 and H3k27M. Molecular genetic testing did not detect KIAA1549-BRAF fusion, 1p deletion, or 1p/19q co-deletion. The patient was finally diagnosed as DLGNT after multidisciplinary team consultation.

Conclusions

Given that the clinical and pathological mechanism of DLGNTs remains unclear, our case gives supplement about the diversity of molecular genetic characteristics. Combination of clinical, neuroradiological, and histopathological data is particularly important for the diagnosis of DLGNTs, till now.

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Data sharing is not applicable to this article as no data sets were generated or analyzed during the current study.

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Acknowledgements

The authors would like to thank the pathologists of Xuan Wu Hospital affiliated to Capital Medical University for the pathological consultation.

Funding

This study is supported by the Health and Family Planning Commission Research Project in Chongqing (Grant No.2017MSXM045) and the Clinical New Technology Project in the Children’s Hospital of Chongqing Medical University (Grant No.202026).

Author information

Authors and Affiliations

  1. Department of Radiology, The Children’s Hospital of Chongqing Medical University, National Clinical Research Center for Child Health and Disorders, Ministry of Education Key Laboratory of Child Development and Disorders, Chongqing Key Laboratory of Pediatrics, China International Science and Technology Cooperation Base of Child development and Critical Disorders, Chongqing, China

    Weiqin Cheng, Ling He & Xiao Fan

  2. Department of Pathology, Chongqing Medical University, Chongqing, China

    Jin Zhu

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  1. Weiqin Cheng
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  2. Ling He
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Contributions

XF designed of the work and substantively revised it and was a major contributor in writing the manuscript. WQC collected, analyzed the patient data, and wrote the draft. LH gave suggestions about data analysis and discussion. JZ reviewed the patient’s pathological data. All authors read and approved the final manuscript.

Corresponding author

Correspondence to Xiao Fan.

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Ethics approval and consent to participate

This case report was approved by the Ethics Committee of the Children’s Hospital of Chongqing Medical University. All patients provided written informed consent.

Consent for publication

Written informed consent was obtained from the patient’s legal guardian(s) for publication of this case report and any accompanying images. A copy of the written consent is available for review by the Editor-in-Chief of this journal.

Conflict of interest

The authors declare that they have no competing interests.

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Cheng, W., He, L., Zhu, J. et al. Diffuse leptomeningeal glioneuronal tumor without KIAA1549-BRAF fusion and 1p detection: a case report and review of literature. Childs Nerv Syst 38, 279–285 (2022). https://doi.org/10.1007/s00381-021-05426-y

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  • DOI: https://doi.org/10.1007/s00381-021-05426-y

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