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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Detalles Bibliográficos
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:
Case Report
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
Descripción
Sumario: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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