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Clinical potential of meningioma genomic insights: a practical review for neurosurgeons

机译：脑膜瘤基因组学见解的临床潜力：神经外科医师的实用评论

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Meningiomas are among the most common intracranial pathological conditions, accounting for 36% of intracranial lesions treated by neurosurgeons. Although the majority of these lesions are benign, the classical categorization of tumors by histological type or World Health Organization (WHO) grade has not fully captured the potential for meningioma progression and recurrence. Many targeted treatments have failed to generate a long-lasting effect on these tumors. Recently, several seminal studies evaluating the genomics of intracranial meningiomas have rapidly changed the understanding of the disease. The importance of NF2 (neurofibromin 2), TRAF7 (tumor necrosis factor [TNF] receptor–associated factor 7), KLF4 (Kruppel-like factor 4), AKT1 , SMO (smoothened), PIK3CA (phosphatidylinositol-4,5-bisphosphate 3-kinase catalytic subunit alpha), and POLR2 (RNA polymerase II subunit A) demonstrates that there are at least 6 distinct mutational classes of meningiomas. In addition, 6 methylation classes of meningioma have been appreciated, enabling improved prediction of prognosis compared with traditional WHO grades. Genomic studies have shed light on the nature of recurrent meningioma, distinct intracranial locations and mutational patterns, and a potential embryonic cancer stem cell–like origin. However, despite these exciting findings, the clinical relevance of these findings remains elusive. The authors review the key findings from recent genomic studies in meningiomas, specifically focusing on how these findings relate to clinical insights for the practicing neurosurgeon.
机译：脑膜瘤是最常见的颅内病理疾病，占神经外科医生治疗的颅内病变的36％。尽管这些病变大多数是良性的，但按组织学类型或世界卫生组织（WHO）等级对肿瘤进行的经典分类尚未完全捕捉到脑膜瘤进展和复发的可能性。许多靶向治疗未能对这些肿瘤产生持久的影响。最近，一些评估颅内脑膜瘤基因组学的开创性研究迅速改变了对该疾病的认识。 NF2（神经纤维蛋白2），TRAF7（肿瘤坏死因子[TNF]受体相关因子7），KLF4（Kruppel样因子4），AKT1，SMO（平滑化），PIK3CA（磷脂酰肌醇-4,5-双磷酸3）的重要性-激酶催化亚基α）和POLR2（RNA聚合酶II亚基A）证明存在至少6种不同的脑膜瘤突变类别。此外，人们还对6种甲基化脑膜瘤进行了评价，与传统WHO分级相比，能够更好地预测预后。基因组学研究揭示了复发性脑膜瘤的性质，颅内独特的位置和突变模式以及潜在的胚胎癌干细胞样起源。然而，尽管有这些令人兴奋的发现，但这些发现的临床相关性仍然难以捉摸。作者回顾了近期脑膜瘤基因组研究的关键发现，特别关注这些发现与实践神经外科医师的临床见解之间的关系。

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