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High Incidence of Activating TERT Promoter Mutations in Meningiomas Undergoing Malignant Progression
Authors:Maxime Mallet  Dominique Henin  Jessica Z Rossi  Michel Kalamarides
Institution:1. INSERM, Génomique Fonctionnelle des Tumeurs Solides, IUH, , Paris, France;2. Assistance Publique‐H?pitaux de Paris, Department of Neuropathology, H?pital Bichat, , Paris, France;3. Faculté de Médecine, Université Paris Diderot, , Paris, France;4. Labex Immuno‐oncology, Sorbonne Paris Cité, Faculté de Médecine, Université Paris Descartes, , Paris, France;5. Assistance Publique‐H?pitaux de Paris, H?pital Européen Georges Pompidou, , Paris, France;6. Assistance Publique‐H?pitaux de Paris, H?pital Pitié Salpêtrière, , Paris, France;7. Faculté de Médecine, Université Pierre et Marie Curie, , Paris, France
Abstract:Meningiomas are common central nervous system tumors. The World Health Organization (WHO) defines three grades, predictive of the risk of recurrence. These tumors can relapse frequently and sometimes undergo malignant transformation. Maintenance of telomere length is a key process in malignant progression, and mutations in TERT promoter have recently been identified in various types of cancer. We sequenced the TERT promoter in 85 meningiomas from 73 patients. We found a high incidence of TERT promoter mutations in patients with meningiomas undergoing malignant histological progression (28%, n = 5/18 patients). In this subset of patients with histological progression, TERT promoter mutations were found in both the lowest and the highest grade tumors, and in both NF2‐mutated and nonmutated samples. In contrast, one mutation was identified in 35 meningiomas without recurrence or progression, belonging to various histological grades. This sample was an aggressive meningioma in a patient who died shortly after surgery. Interestingly, tumors showing relapse without histological progression were not mutated for TERT promoter (n = 20). Finally, TERT promoter mutations were associated with a marked increase in TERT expression. Thus, TERT promoter mutations are pivotal genetic alterations involved in malignant progression of meningiomas and could be used as a biomarker to identify meningiomas at risk of malignant transformation.
Keywords:malignant progression  meningioma  neurofibromatosis type 2  TERT promoter
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