Molecular Genetics of Meningioma

Abstract

Meningiomas are the most common primary brain tumours in the adult central nervous system. These tumours are not normally malignant, but can cause brain invasion and lead to various motor and sensory deficits, which are dependent on tumour location. Meningiomas are normally single, sporadic tumours, but can occur as multiple meningiomas. Neurofibromatosis type 2 ( NF2 ) mutations are the most common genetic cause of meningiomas and multiple meningiomas usually occur within the context of NF2 disease. Recent studies have identified a variety of other, less common, germline and somatic mutations in meningioma disease, showing that alternative mechanisms exist for the initiation and progression of meningioma growth. These discoveries will be useful for determining individual risk and prognosis and to develop individualised therapeutic strategies based on specific meningioma subtypes. Key Concepts Meningiomas are the most common tumours in the adult central nervous system. Most meningiomas are solitary tumours. The neurofibromatosis type 2 gene is the most common cause of meningiomas. Rare non‐NF2 meningioma predisposition genes can cause hereditary meningioma disease. A range of somatic alterations in meningiomas may cause tumour development via differing cellular pathways.