The Multifaceted Appearance of Supratentorial Ependymoma with ZFTA-MAML2 Fusion

Authors

  • Ming Liang Oon Department of Pathology, National University Health System, Singapore, Singapore
  • Lutfi Hendriansyah Department of Neurosurgery, Siloam Hospital Lippo Village Karawaci, Tangerang, Indonesia
  • Patricia Diana Pratiseyo Department of Pathology, Siloam Hospital Lippo Village Karawaci, Tangerang, Indonesia
  • Eka Wahjoepramono Department of Neurosurgery, Siloam Hospital Lippo Village Karawaci, Tangerang, Indonesia
  • Jian Yuan Goh Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore
  • Chik Hong Kuick Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore.
  • Kenneth TE Chang Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore; Duke-NUS Medical School, Singapore, Singapore
  • Arie Perry Departments of Pathology and Neurological Surgery, University of California, San Francisco, California, USA
  • Char Loo Tan Department of Pathology, National University Health System, Singapore, Singapore; Department of Pathology and Laboratory Medicine, KK Women's and Children's Hospital, Singapore, Singapore https://orcid.org/0000-0002-1470-3175

DOI:

https://doi.org/10.17879/freeneuropathology-2021-3397

Keywords:

Ependymoma, ZFTA, C11orf95, MAML2, Myogenic

Abstract

Ependymomas are glial neoplasms with a wide morphological spectrum. The majority of supratentorial ependymomas are known to harbor ZFTA fusions, most commonly to RELA. We present an unusual case of a 9-year-old boy with a supratentorial ependymoma harboring a noncanonical ZFTA-MAML2 fusion. This case had unusual histomorphological features lacking typical findings of ependymoma and bearing resemblance to a primitive neoplasm with focal, previously undescribed myogenic differentiation. We discuss the diagnostic pitfalls in this case and briefly review the histological features of ependymoma with noncanonical gene fusions. Our report underscores the importance of molecular testing in such cases to arrive at the correct diagnosis. Supratentorial ependymomas with noncanonical fusions are rare, and more studies are necessary for better risk stratification and identification of potential treatment targets.

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Published

2021-09-20

How to Cite

Oon, M. L., Hendriansyah, L., Pratiseyo, P. D., Wahjoepramono, E., Goh, J. Y., Kuick, C. H., Chang, K. T., Perry, A., & Tan, C. L. (2021). The Multifaceted Appearance of Supratentorial Ependymoma with ZFTA-MAML2 Fusion. Free Neuropathology, 2, 24. https://doi.org/10.17879/freeneuropathology-2021-3397

Issue

Section

Case Reports