High Incidence of ActivatingTERTPromoter Mutations in Meningiomas Undergoing Malignant Progression
| Autor: | Jean C. Nault, Dominique Henin, Maxime Mallet, Michel Kalamarides, Jessica Zucman–Rossi, Stéphane Goutagny |
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| Rok vydání: | 2013 |
| Předmět: |
Mutation
Pathology medicine.medical_specialty Telomerase General Neuroscience Cancer Biology medicine.disease_cause medicine.disease Pathology and Forensic Medicine Malignant transformation Meningioma otorhinolaryngologic diseases medicine Cancer research Biomarker (medicine) Meningeal Neoplasm Neurology (clinical) Neurofibromatosis type 2 |
| Zdroj: | Brain Pathology. 24:184-189 |
| ISSN: | 1015-6305 |
| DOI: | 10.1111/bpa.12110 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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