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

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 distingui...

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Autores principales:	Matthias Dottermusch, Ali Alomari, Nesrin Uksul, Ulrich J. Knappe, Julia E. Neumann
Formato:	article
Lenguaje:	EN
Publicado:	University of Münster / Open Journals System 2021
Materias:	Atypical teratoid/rhabdoid tumor Pleomorphic xanthoastrocytoma DNA methylation Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
Acceso en línea:	https://doaj.org/article/ae1c59f0c1f44a5ea5a906728ae73bd0
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spelling	oai:doaj.org-article:ae1c59f0c1f44a5ea5a906728ae73bd02021-12-05T18:40:02ZAn atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient10.17879/freeneuropathology-2021-36402699-4445https://doaj.org/article/ae1c59f0c1f44a5ea5a906728ae73bd02021-11-01T00:00:00Zhttps://www.uni-muenster.de/Ejournals/index.php/fnp/article/view/3640https://doaj.org/toc/2699-4445 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. Matthias DottermuschAli AlomariNesrin UksulUlrich J. KnappeJulia E. NeumannUniversity of Münster / Open Journals SystemarticleAtypical teratoid/rhabdoid tumorPleomorphic xanthoastrocytomaDNA methylationNeurosciences. Biological psychiatry. NeuropsychiatryRC321-571ENFree Neuropathology, Vol 2 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Atypical teratoid/rhabdoid tumor Pleomorphic xanthoastrocytoma DNA methylation Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571
spellingShingle	Atypical teratoid/rhabdoid tumor Pleomorphic xanthoastrocytoma DNA methylation Neurosciences. Biological psychiatry. Neuropsychiatry RC321-571 Matthias Dottermusch Ali Alomari Nesrin Uksul Ulrich J. Knappe Julia E. Neumann An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient
description	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.
format	article
author	Matthias Dottermusch Ali Alomari Nesrin Uksul Ulrich J. Knappe Julia E. Neumann
author_facet	Matthias Dottermusch Ali Alomari Nesrin Uksul Ulrich J. Knappe Julia E. Neumann
author_sort	Matthias Dottermusch
title	An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient
title_short	An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient
title_full	An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient
title_fullStr	An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient
title_full_unstemmed	An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient
title_sort	atypical teratoid/rhabdoid tumor (at/rt) with molecular features of pleomorphic xanthoastrocytoma (pxa) in a 62-year-old patient
publisher	University of Münster / Open Journals System
publishDate	2021
url	https://doaj.org/article/ae1c59f0c1f44a5ea5a906728ae73bd0
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An atypical teratoid/rhabdoid tumor (AT/RT) with molecular features of pleomorphic xanthoastrocytoma (PXA) in a 62-year-old patient

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