An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient

Authors

  • Matthias Dottermusch Institute of Neuropathology; Center for Molecular Neurobiology (ZMNH), University Medical Center Hamburg-Eppendorf, Hamburg, Germany
  • Ali Alomari Department of Neurosurgery, Johannes Wesling Klinikum, University Hospital of Ruhruniversität Bochum, Minden, Germany
  • Nesrin Uksul Department of Neurosurgery, Johannes Wesling Klinikum, University Hospital of Ruhruniversität Bochum, Minden, Germany
  • Ulrich J. Knappe Department of Neurosurgery, Johannes Wesling Klinikum, University Hospital of Ruhruniversität Bochum, Minden, Germany
  • Julia E. Neumann Center for Molecular Neurobiology (ZMNH); Institute of Neuropathology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany

DOI:

https://doi.org/10.17879/freeneuropathology-2021-3640

Keywords:

Atypical teratoid/rhabdoid tumor, Pleomorphic xanthoastrocytoma, DNA methylation

Abstract

Atypical teratoid/rhabdoid tumors (AT/RT) are aggressively growing malignant embryonal neoplasms of the central nervous system (CNS), which mainly affect young children. Loss of SMARCB1/INI1 (or SMARCA4 in rare cases) is recognized as the genetic hallmark of AT/RTs and these tumors can be distinguished into three distinct DNA-methylation based molecular subgroups (i.e. -MYC, -SHH and -TYR). While most AT/RTs are considered to occur de novo, previous studies have recognized secondary SMARCB1/INI1-deficient rhabdoid tumors arising from other low grade CNS tumors in young patients. Three AT/RTs, which harbor epigenetic and mutational characteristics of pleomorphic xanthoastrocytoma (PXA), while being entirely void of nuclear SMARCB1/INI1 expression, were recently described in older children. We here report the first case of an AT/RT with molecular features of PXA in a senior patient. 

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Published

2021-11-15

How to Cite

Dottermusch, M., Alomari, A., Uksul, N., Knappe, U. J., & Neumann, J. E. (2021). An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient. Free Neuropathology, 2, 31. https://doi.org/10.17879/freeneuropathology-2021-3640

Issue

Vol. 2 (2021)

Section

Case Reports

License

Copyright (c) 2021 Matthias Dottermusch, Ali Alomari, Nesrin Uksul, Ulrich J. Knappe, Julia E. Neumann

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This work is licensed under a Creative Commons Attribution 4.0 International License.

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