2020
DOI: 10.1136/jnnp-2019-322257
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Poor prognosis associated with TERT gene alterations in meningioma is independent of the WHO classification: an individual patient data meta-analysis

Abstract: BackgroundTERT gene alterations (TERT-alt) have been linked to increased risk of recurrence in meningiomas, whereas the association to mortality largely remain incompletely investigated. As incongruence between clinical course and WHO grade exists, reliable biomarkers have been sought.MethodsWe applied the Preferred Reporting Items for Systematic Review and Meta-Analyses of individual participant data Statement. We compiled data from eight studies and allocated patients to TERT-alt (n=59) or TERT promoter wild… Show more

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Cited by 94 publications
(87 citation statements)
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“…Mutations in BRAF V600E have been associated with rhabdoid meningiomas WHO grade III and recurrent meningiomas (83,84). Alteration of the telomerase reverse transcriptase (TERT) promoter has been shown to be associated with an increased risk of recurrence (16,85).…”
Section: Genetics and Molecular Characteristicsmentioning
confidence: 99%
“…Mutations in BRAF V600E have been associated with rhabdoid meningiomas WHO grade III and recurrent meningiomas (83,84). Alteration of the telomerase reverse transcriptase (TERT) promoter has been shown to be associated with an increased risk of recurrence (16,85).…”
Section: Genetics and Molecular Characteristicsmentioning
confidence: 99%
“…As TERT promoter mutations are associated with early recurrence [ 8 , 11 ], we evaluated the effects of the TERT status on the TTP in a subset of patients ( n = 293, 16 with CDKN2A/B homozygously deleted tumors) with available sequencing data, both individually and combined with the CDKN2A/B status. Tumors of 6/293 patients carried a TERT promoter mutation, three of them showed co-occurrence of a homozygous deletion of CDKN2A/B ( p = 0.002).…”
mentioning
confidence: 99%
“…These estimates must be tempered as the frequency of TERTp mutations might be underestimated in high-grade meningiomas due to intratumoral heterogeneity, the late emergence during tumor evolution, or the occurrence of other TERT alterations, such as gene rearrangements [15,20,21]. Some investigators have proposed a designation of "grade 4" meningioma for these meningiomas [25]. Interestingly, in our cohort, this group includes a relatively large subset of high-grade meningiomas that harbored TP53 mutations, a gene alteration that has been previously seldom described in meningiomas or during meningioma progression [18,20,40].…”
Section: Discussionmentioning
confidence: 99%
“…Based upon mutational phenotype in each sample, we assigned the tumors to at least three subclasses. The used molecular assignment relies on the growing body of literature of molecular patterns that have been recently described in meningiomas [25,32,42,43].…”
Section: Molecular Assignment Of Subclassesmentioning
confidence: 99%