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

Serena Ammendola,Francesco Sala,Maria Caffo,Valeria Barresi,Giampietro Pinna,Aldo Scarpa,Michele Simbolo,Paola Chiara Rizzo,Chiara Ciaparrone

doi:10.3390/curroncol29010017

Serena Ammendola, Francesco Sala + Show 7 more

Open Access

https://doi.org/10.3390/curroncol29010017

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Journal: Current Oncology	Publication Date: Jan 2, 2022
Citations: 4	License type: CC BY 4.0

Affiliation: University of Verona, University of Messina

Abstract

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.

Highlights

Meningiomas mostly arise in the cerebral meninges (>80%) and are among the most frequent tumors of the central nervous system, accounting for approximately 38% of brain neoplasms overall [1]
NF2-altered tumors are mainly localized at the convexity or in the lateral and posterior skull base; SMO-mutated meningiomas arise in the olfactory groove, while those with AKT1 and PIK3CA mutations are mostly found in the anterior and middle skull base [3]
This study expands the knowledge on the molecular features of Intraventricular meningiomas (IVMs), confirming the lack of recurrent alterations different from NF2 mutations

Summary

Introduction

Meningiomas mostly arise in the cerebral meninges (>80%) and are among the most frequent tumors of the central nervous system, accounting for approximately 38% of brain neoplasms overall [1]. They are classified into three histological grades of malignancy, with grade I being about 80% and grades II and III representing 20–25% and 1–6%, respectively [1]. NF2-altered tumors are mainly localized at the convexity or in the lateral and posterior skull base; SMO-mutated meningiomas arise in the olfactory groove, while those with AKT1 and PIK3CA mutations are mostly found in the anterior and middle skull base [3]. Meningiomas accumulate copy number alterations, among which CDKN2A homozygous deletion or 1p, 6q, 14q, 18q and 22q loss of heterozygosity (LOH) are prognostically significant [4]

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