具有高级别特征及MYBL1-MMP16融合的星形细胞瘤
Astrocytoma with high-grade features and MYBL1-MMP16 fusion.
作者信息
Alarfaj Abdullah, Pollock Brooke, Sagga Abdelaziz, Das Sumit, Chow Michael
机构信息
Department of Neurosurgery, University of Alberta, King Faisal University, Office of Postgraduate Surgical Education, University of Alberta, Edmonton, Canada.
Department of Neurosurgery, University of Alberta, Office of Postgraduate Surgical Education, University of Alberta, Edmonton, Canada.
出版信息
Surg Neurol Int. 2024 Jun 21;15:203. doi: 10.25259/SNI_465_2023. eCollection 2024.
BACKGROUND
Gliomas represent the most common primary intraparenchymal brain tumors in adult and pediatric patients. Neuropathological work-up of these gliomas typically entails the determination of isocitrate dehydrogenase (IDH) mutational status, presence or absence of 1p/19q co-deletion, and O6 methylguanine-DNA methyl-transferase (MGMT) promoter methylation status.
CASE DESCRIPTION
We present here an unusual case of a posterior fossa tumor in a 51-year-old female, which was initially diagnosed as astrocytoma with some high-grade features that recurred, displaying even more aggressive features such as infiltration and increased proliferative activity. Both the initially resected and recurrent tumor revealed MYBL1-MMP16 fusion, which is much more commonly found in pediatric low-grade gliomas and, to our knowledge has not been described in the context of an adult glioma.
CONCLUSION
The significance of MYBL1-MMP16 fusion in adult gliomas in relation to survival and likelihood of recurrence is, therefore, unknown and requires more extensive research.
背景
胶质瘤是成人和儿童患者中最常见的原发性脑实质内肿瘤。这些胶质瘤的神经病理学检查通常需要确定异柠檬酸脱氢酶（IDH）突变状态、1p/19q共缺失的有无以及O6甲基鸟嘌呤-DNA甲基转移酶（MGMT）启动子甲基化状态。
病例描述
我们在此介绍一例51岁女性后颅窝肿瘤的罕见病例，该肿瘤最初被诊断为具有一些高级别特征的星形细胞瘤，肿瘤复发后表现出更具侵袭性的特征，如浸润和增殖活性增加。最初切除的肿瘤和复发性肿瘤均显示MYBL1-MMP16融合，这种融合在儿童低级别胶质瘤中更为常见，据我们所知，在成人胶质瘤中尚未见报道。
结论
因此，MYBL1-MMP16融合在成人胶质瘤中与生存及复发可能性的关系尚不清楚，需要更广泛的研究。
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