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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,...

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Autores principales: Al-Battashi, Abeer, Al Hajri, Zahra, Perry, Arie, Al-Kindi, Hunaina, Al-Ghaithi, Ibrahim
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Sultan Qaboos University Medical Journal, College of Medicine & Health Sciences 2019
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.
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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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