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Child's Nervous System

, Volume 35, Issue 9, pp 1609–1614 | Cite as

Unusual radiological and histological presentation of a diffuse leptomeningeal glioneuronal tumor (DLGNT) in a 13-year-old girl

  • Nishant Tiwari
  • Benita Tamrazi
  • Nathan Robison
  • Mark Krieger
  • Jianling Ji
  • Di TianEmail author
Case Report
  • 146 Downloads

Abstract

Diffuse leptomeningeal glioneuronal tumors (DLGNTs) are newly recognized as an entity in the 2016 revision of the WHO Classification of tumors of the central nervous system. They typically present as diffuse leptomeningeal infiltrates along the neuraxis with focal and superficial involvement of the parenchyma. Here, we report a DLGNT with unusual radiological and histological features. A 13-year-old girl presented with scoliosis and back pain. Magnetic resonance imaging demonstrated a syrinx from C2 to T11 and an intramedullary mass from T6 to T9–10. No leptomeningeal involvement was recognized. Histological examination of the gross total resection specimen revealed a low-grade neuroepithelial neoplasm predominantly infiltrating the spinal cord and only focally involving the leptomeninges. Chromosome microarray identified 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. Next-generation sequencing demonstrated wild-type alleles at the mutational hotspots of IDH1 (R132) and IDH2 (R140 and R172). In contrast to most reported DLGNTs, the tumor described in this manuscript was characterized by a predominant parenchymal component and only minor leptomeningeal involvement both radiographically and histologically. Our case, therefore, expands the spectrum of radiological and histopathological features of this new entity. It also highlights the critical role of molecular genetic testing in establishing the diagnosis of DLGNT in unusual cases.

Keywords

Diffuse leptomeningeal glioneuronal tumors (DLGNT) BRAF KIAA1549-BRAF fusion 1p/19q co-deletion Scoliosis Syrinx 

Notes

Acknowledgements

We would like to sincerely thank the patient and her family members for allowing us to report this case.

Compliance with ethical standards

Conflict of interest

On behalf of all authors, the corresponding author states that there is no conflict of interest.

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Copyright information

© Springer-Verlag GmbH Germany, part of Springer Nature 2019

Authors and Affiliations

  • Nishant Tiwari
    • 1
  • Benita Tamrazi
    • 2
  • Nathan Robison
    • 3
  • Mark Krieger
    • 4
  • Jianling Ji
    • 1
  • Di Tian
    • 1
    Email author
  1. 1.Department of Pathology and Laboratory MedicineChildren’s Hospital Los AngelesLos AngelesUSA
  2. 2.Department of Radiology, NeuroradiologyChildren’s Hospital Los AngelesLos AngelesUSA
  3. 3.Department of Pediatrics, Neuro-oncologyChildren’s Hospital Los AngelesLos AngelesUSA
  4. 4.Department of Surgery, NeurosurgeryChildren’s Hospital Los AngelesLos AngelesUSA

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