Patel Zeel, Wang Justin Z, Merali Zamir, Patil Vikas, Nassiri Farshad, Wei Qingxia, Sosa Julio, Coire Claire, Zadeh Gelareh
1Temerty Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.
2MacFeeters Hamilton Neuro-Oncology Program, Princess Margaret Cancer Centre, University Health Network and University of Toronto, Toronto, Ontario, Canada.
J Neurosurg Case Lessons. 2023 Feb 6;5(6). doi: 10.3171/CASE22518.
Lipomatous meningiomas are an extremely rare, benign meningioma subtype subcategorized under metaplastic meningioma in the most recent 2021 update to the World Health Organization classification. They make up less than 0.3% of all meningiomas and, to date, less than 70 cases have been reported in the literature, none of which have undergone molecular profiling. This study aims to promote the utility of molecular profiling to better diagnose these rare tumors.
The authors present the first case of a lipomatous meningioma with DNA methylation profiling that both confirmed its benign biology and uncovered unique cytogenetic changes. Molecular characterization of a lipomatous meningioma confirmed its diagnosis as a distinct, benign meningioma subtype and revealed several copy number variations on chromosome 8 and in NF2 and SMARCB1. Here we discuss some of the radiological and histopathological features of lipomatous meningiomas, how they can be used to distinguish from other meningiomas and other similarly presenting tumors, and a brief literature review discussing the pathophysiology and presentation of this rare tumor.
This study provides evidence supporting the use of molecular profiling to diagnose lipomatous meningiomas and guide their clinical management more accurately.
脂肪瘤型脑膜瘤是一种极为罕见的良性脑膜瘤亚型，在世界卫生组织2021年最新分类中被归类于化生型脑膜瘤。它们占所有脑膜瘤的比例不到0.3%，迄今为止，文献报道的病例不足70例，且均未进行分子分析。本研究旨在推广分子分析的应用，以更好地诊断这些罕见肿瘤。
作者报告了首例进行DNA甲基化分析的脂肪瘤型脑膜瘤病例，该分析既证实了其良性生物学特性，又揭示了独特的细胞遗传学变化。脂肪瘤型脑膜瘤的分子特征证实其诊断为一种独特的良性脑膜瘤亚型，并揭示了8号染色体以及NF2和SMARCB1基因的几个拷贝数变异。在此，我们讨论脂肪瘤型脑膜瘤的一些放射学和组织病理学特征、如何利用这些特征与其他脑膜瘤及其他表现相似的肿瘤进行鉴别，以及一篇简要的文献综述，讨论这种罕见肿瘤的病理生理学和临床表现。
本研究提供了证据，支持使用分子分析来诊断脂肪瘤型脑膜瘤，并更准确地指导其临床管理。
