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
صندلی اداری سرور مجازی ایران Decentralized Exchange

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.

Papers are published open access under the Creative Commons BY 4.0 license. This license lets others distribute, remix, adapt, and build upon your work, even commercially, as long as they credit you for the original creation. Data included in the article are made available under the CC0 1.0 Public Domain Dedication waiver, unless otherwise stated, meaning that all copyrights are waived.

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