A Cerebellar High-Grade Neuroepithelial Tumour with BCOR Alteration in a five-year-old Child: A case report

Autor: Abeer Al-Battashi, Zahra Al Hajri, Arie Perry, Hunaina Al-Kindi, Ibrahim Al-Ghaithi
Jazyk: angličtina
Rok vydání: 2019
Předmět:
Zdroj: Sultan Qaboos University Medical Journal, Vol 19, Iss 2, Pp 153-156 (2019)
Druh dokumentu: article
ISSN: 2075-051X
2075-0528
DOI: 10.18295/squmj.2019.19.02.012
Popis: ABSTRACT: 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. Keywords: Neuroepithelial Tumor; Glioblastoma; Human BCOR Protein; Embryonal Tumors; Case Report; Oman.
Databáze: Directory of Open Access Journals