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Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis
Atypical teratoid/rhabdoid tumor (ATRT) is a malignant CNS embryonal tumor that mostly occurs in childhood, adult cases are rare. We report a case of a 23-year-old male with an extra-axial dura-based lesion in the left frontal area, previously diagnosed as gliosarcoma. After 6 years, the patient had...
Autores principales: | , , , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Future Medicine Ltd
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341157/ https://www.ncbi.nlm.nih.gov/pubmed/32602741 http://dx.doi.org/10.2217/cns-2020-0006 |
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author | Hiba, Alzoubi Francesca, Gianno Felice, Giangaspero Daniela, Bartolini Luca, Riccioni Evelina, Miele Manila, Antonelli |
author_facet | Hiba, Alzoubi Francesca, Gianno Felice, Giangaspero Daniela, Bartolini Luca, Riccioni Evelina, Miele Manila, Antonelli |
author_sort | Hiba, Alzoubi |
collection | PubMed |
description | Atypical teratoid/rhabdoid tumor (ATRT) is a malignant CNS embryonal tumor that mostly occurs in childhood, adult cases are rare. We report a case of a 23-year-old male with an extra-axial dura-based lesion in the left frontal area, previously diagnosed as gliosarcoma. After 6 years, the patient had a recurrence and the previous slides were reviewed. Tumor was positive for vimentin and negative for INI1. The differential diagnosis for this extra-axial tumor with long survival was rhabdoid meningioma with INI1 loss or ATRT. DNA methylation profiling was performed to reach the final and the most definitive diagnosis; the result was ATRT. Our case suggests the usefulness of DNA methylation profiling for diagnosing challenging CNS tumors. |
format | Online Article Text |
id | pubmed-7341157 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | Future Medicine Ltd |
record_format | MEDLINE/PubMed |
spelling | pubmed-73411572020-07-14 Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis Hiba, Alzoubi Francesca, Gianno Felice, Giangaspero Daniela, Bartolini Luca, Riccioni Evelina, Miele Manila, Antonelli CNS Oncol Case Report Atypical teratoid/rhabdoid tumor (ATRT) is a malignant CNS embryonal tumor that mostly occurs in childhood, adult cases are rare. We report a case of a 23-year-old male with an extra-axial dura-based lesion in the left frontal area, previously diagnosed as gliosarcoma. After 6 years, the patient had a recurrence and the previous slides were reviewed. Tumor was positive for vimentin and negative for INI1. The differential diagnosis for this extra-axial tumor with long survival was rhabdoid meningioma with INI1 loss or ATRT. DNA methylation profiling was performed to reach the final and the most definitive diagnosis; the result was ATRT. Our case suggests the usefulness of DNA methylation profiling for diagnosing challenging CNS tumors. Future Medicine Ltd 2020-06-30 /pmc/articles/PMC7341157/ /pubmed/32602741 http://dx.doi.org/10.2217/cns-2020-0006 Text en © 2020 Manila Antonelli This work is licensed under the Attribution-NonCommercial-NoDerivatives 4.0 Unported License (http://creativecommons.org/licenses/by-nc-nd/4.0/) |
spellingShingle | Case Report Hiba, Alzoubi Francesca, Gianno Felice, Giangaspero Daniela, Bartolini Luca, Riccioni Evelina, Miele Manila, Antonelli Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis |
title | Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis |
title_full | Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis |
title_fullStr | Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis |
title_full_unstemmed | Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis |
title_short | Dural-based atypical teratoid/rhabdoid tumor in an adult: DNA methylation profiling as a tool for the diagnosis |
title_sort | dural-based atypical teratoid/rhabdoid tumor in an adult: dna methylation profiling as a tool for the diagnosis |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7341157/ https://www.ncbi.nlm.nih.gov/pubmed/32602741 http://dx.doi.org/10.2217/cns-2020-0006 |
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