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A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report
New groups of high-grade neuroepithelial tumours (HGNET) have emerged from the reclassification of central nervous system (CNS) embryonal tumours that have recognised CNS HGNET with BCOR alteration (CNS HGNET-BCOR). We report a two-year, nine-month-old Omani boy who presented to the Royal Hospital,...
Autores principales: | , , , , |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences
2019
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736267/ https://www.ncbi.nlm.nih.gov/pubmed/31538015 http://dx.doi.org/10.18295/squmj.2019.19.02.012 |
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author | Al-Battashi, Abeer Al Hajri, Zahra Perry, Arie Al-Kindi, Hunaina Al-Ghaithi, Ibrahim |
author_facet | Al-Battashi, Abeer Al Hajri, Zahra Perry, Arie Al-Kindi, Hunaina Al-Ghaithi, Ibrahim |
author_sort | Al-Battashi, Abeer |
collection | PubMed |
description | New groups of high-grade neuroepithelial tumours (HGNET) have emerged from the reclassification of central nervous system (CNS) embryonal tumours that have recognised CNS HGNET with BCOR alteration (CNS HGNET-BCOR). We report a two-year, nine-month-old Omani boy who presented to the Royal Hospital, Muscat, Oman, in 2015 with subacute head tilting and neck pain. A well-defined cerebellar lesion was found and he was treated with standard chemoradiotherapy. After a relapse at the age of five years, molecular testing revealed a BCOR alteration. He was treated with further surgery and high-dose chemotherapy; unfortunately, he relapsed and died three years after he was diagnosed. |
format | Online Article Text |
id | pubmed-6736267 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2019 |
publisher | Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences |
record_format | MEDLINE/PubMed |
spelling | pubmed-67362672019-09-19 A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report Al-Battashi, Abeer Al Hajri, Zahra Perry, Arie Al-Kindi, Hunaina Al-Ghaithi, Ibrahim Sultan Qaboos Univ Med J Case Report New groups of high-grade neuroepithelial tumours (HGNET) have emerged from the reclassification of central nervous system (CNS) embryonal tumours that have recognised CNS HGNET with BCOR alteration (CNS HGNET-BCOR). We report a two-year, nine-month-old Omani boy who presented to the Royal Hospital, Muscat, Oman, in 2015 with subacute head tilting and neck pain. A well-defined cerebellar lesion was found and he was treated with standard chemoradiotherapy. After a relapse at the age of five years, molecular testing revealed a BCOR alteration. He was treated with further surgery and high-dose chemotherapy; unfortunately, he relapsed and died three years after he was diagnosed. Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2019-05 2019-09-08 /pmc/articles/PMC6736267/ /pubmed/31538015 http://dx.doi.org/10.18295/squmj.2019.19.02.012 Text en © Copyright 2019, Sultan Qaboos University Medical Journal, All Rights Reserved This work is licensed under a Creative Commons Attribution-NoDerivatives 4.0 International License (http://creativecommons.org/licenses/by-nd/4.0/) . |
spellingShingle | Case Report Al-Battashi, Abeer Al Hajri, Zahra Perry, Arie Al-Kindi, Hunaina Al-Ghaithi, Ibrahim A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report |
title | A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report |
title_full | A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report |
title_fullStr | A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report |
title_full_unstemmed | A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report |
title_short | A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report |
title_sort | cerebellar high-grade neuroepithelial tumour with bcor alteration in a five-year-old child: a case report |
topic | Case Report |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6736267/ https://www.ncbi.nlm.nih.gov/pubmed/31538015 http://dx.doi.org/10.18295/squmj.2019.19.02.012 |
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