Intraventricular Meningiomas: Clinical-Pathological and Genetic Features of a Monocentric Series

Autor: Serena Ammendola, Michele Simbolo, Chiara Ciaparrone, Paola Chiara Rizzo, Maria Caffo, Giampietro Pinna, Francesco Sala, Aldo Scarpa, Valeria Barresi
Jazyk: angličtina
Rok vydání: 2022
Předmět:
Zdroj: Current Oncology, Vol 29, Iss 1, Pp 178-185 (2022)
Druh dokumentu: article
ISSN: 1718-7729
1198-0052
DOI: 10.3390/curroncol29010017
Popis: Intraventricular meningiomas (IVMs) are rare (0.5–5%) and usually low-grade (90% grade I) brain neoplasms. Their recurrence rate is lower than that of extra-axial meningiomas, but their surgical resection can be burdened with life-threatening complications, which represent the major cause of the reported 4% mortality. The aim of this study is to characterize the molecular portrait of IVMs to identify potential therapeutic targets. For this, we explored mutations and copy number variations (CNV) of 409 cancer-related genes and tumor mutational burden (TMB) of six cases, using next-generation sequencing. Five IVMs were grade I and one was grade II; none recurred, in spite of partial surgical resection in one case. NF2 mutation was the only recurring alteration and was present in three of the six IVMs, in association with SMARCB1 mutation in one case. None of the cases was hypermutated (TMB > 10 mutations/Mb). NF2-mutant progressing or recurring IVMs could potentially be treated with targeted therapies applied to other NF2-mutant tumors, as an alternative to surgery or radiosurgery, while in view of their low TMB they are unlikely candidates to immune check-point inhibition.
Databáze: Directory of Open Access Journals
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