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A germline variant of TP53 in paediatric diffuse leptomeningeal glioneuronal tumour

  • Grace I. L. Tan
  • Khurshid Merchant
  • Enrica E. K. Tan
  • David C. Y. Low
  • Lee Ping NG
  • Wan Tew Seow
  • Sharon Y. Y. LowEmail author
Case Report
  • 34 Downloads

Abstract

Purpose

Diffuse leptomeningeal glioneuronal tumour (DLGNT) is an extremely rare tumour involving the neuroaxis. At present, its exact pathogenesis and associated factors remain incompletely characterised. Recent molecular investigations in a small cohort have offered some insights into this disease. However, the role of germline findings has not yet been fully explored in affected patients. The authors present a case of DLGNT, focusing on the clinical and molecular features with reference to current disease knowledge.

Methods

A 4-year-old male presented with raised intracranial pressure symptoms secondary to extensive leptomeningeal disease of the brain and spine. Preliminary impression was that of an inflammatory lesion.

Results

A lumbar biopsy of the lesion confirmed DLGNT on routine diagnostic examination. Further molecular analysis of his tumour and blood demonstrated a previously unreported TP53 exon 5 (c.147V > I) germline variant. Based on the latest DLGNT molecular subtyping classification, his tumour falls into the group with better clinical outcome. However, his germline findings may add an extra layer of uncertainty to his overall prognosis.

Conclusion

Given that much remains unknown in many rare paediatric tumours at this stage, isolated findings found in an individual may be of significance. Supplementary genetic information, together with tumour molecular analysis, add to our current understanding of this uncommon disease. This case highlights the benefit of combined clinical and molecular efforts, including germline testing, especially for children affected by such challenging neoplasms.

Keywords

Glioma Diffuse leptomeningeal glioneuronal tumour TP53 

Notes

Acknowledgments

This project was supported by the VIVA-KKH Paediatric Brain and Solid Tumour Programme. In addition, the authors would like to thank Dr. Alvin Lim and Miss Lim TH from the Cytogenetics Laboratory, Department of Molecular Pathology (Singapore General Hospital), for their kind assistance with the FISH images.

Compliance with ethical standards

Conflict of interest

We, the authors of this manuscript, report no funding, financial support or industrial affiliations received for the writing of this article. In addition, we report no conflict of interest concerning the material or methods used in this paper. This manuscript has not been published and is not being considered for publication elsewhere.

Supplementary material

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Supplementary Figure 1

(PNG 475 kb)

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High resolution image (TIFF 6595 kb)

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Copyright information

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

Authors and Affiliations

  • Grace I. L. Tan
    • 1
  • Khurshid Merchant
    • 2
  • Enrica E. K. Tan
    • 3
  • David C. Y. Low
    • 1
    • 4
    • 5
  • Lee Ping NG
    • 1
  • Wan Tew Seow
    • 1
    • 4
    • 5
  • Sharon Y. Y. Low
    • 1
    • 4
    • 5
    Email author
  1. 1.Neurosurgical ServiceKK Women’s and Children’s HospitalSingaporeSingapore
  2. 2.Department of Pathology and Laboratory MedicineKK Women’s and Children’s HospitalSingaporeSingapore
  3. 3.Paediatric Haematology/Oncology ServiceKK Women’s and Children’s HospitalSingaporeSingapore
  4. 4.Department of NeurosurgeryNational Neuroscience InstituteSingaporeSingapore
  5. 5.SingHealth Duke-NUS Neuroscience Academic Clinical ProgramSingaporeSingapore

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