Multiple Meningiomas as a Criterion for the Diagnosis of Neurofibromatosis Type 2 and Other Tumor Predisposition Syndromes.

Autor:	Hannan CJ; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Manchester, UK.; Division of Cardiovascular Sciences, University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester, UK., Hammerbeck-Ward C; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Manchester, UK., Pathmanaban ON; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester, UK.; Division of Neuroscience and Experimental Psychology, University of Manchester, Manchester, UK., Smith MJ; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK., Rutherford SA; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Manchester, UK., Lloyd SK; Division of Neuroscience and Experimental Psychology, University of Manchester, Manchester, UK.; Department of Otolaryngology, Salford Royal Hospital, Manchester, UK.; Department of Otolaryngology, Manchester University NHS Foundation Trust, Manchester, UK., Mackenzie Freeman SR; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.; Department of Otolaryngology, Salford Royal Hospital, Manchester, UK., Wallace AJ; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK., King AT; Department of Neurosurgery, Manchester Centre for Clinical Neurosciences, Manchester, UK.; Division of Cardiovascular Sciences, University of Manchester, Manchester, UK.; Geoffrey Jefferson Brain Research Centre, Manchester, UK., Richard Evans DG; North West Genomic Laboratory Hub, Manchester Centre for Genomic Medicine, St. Mary's Hospital, Manchester University NHS Foundation Trust, Manchester, UK.; Division of Evolution, Infection and Genomics, School of Biological Sciences, Faculty of Biology, Medicine and Health, University of Manchester, Manchester Academic Health Science Centre, Manchester, UK.
Jazyk:	angličtina
Zdroj:	Neurosurgery [Neurosurgery] 2022 Jun 01; Vol. 90 (6), pp. 793-799. Date of Electronic Publication: 2022 Mar 30.
DOI:	10.1227/neu.0000000000001926
Abstrakt:	Background: Bilateral vestibular schwannomas (VS) are pathognomonic of neurofibromatosis type 2 (NF2), but the diagnostic criteria also include unilateral VS (UVS) in combination with multiple meningiomas (MM) and other schwannomas, as well as MM without VS. Objective: To investigate the diagnostic value of these criteria and establish the presence of other genetic conditions in patients presenting in this manner. Methods: The Manchester International NF2 database was accessed to obtain information on patients presenting with a UVS and MM or ≥2 nonintradermal schwannomas (NIDS). We gathered data on patients diagnosed with NF2 due to MM without VS and on patients presenting with MM without meeting NF2 criteria. Analysis was performed for pathogenic variants (PVs) in NF2, SMARCE1, SMARCB1, and LZTR1. Results: A total of 31 of 131 patients presenting with a UVS and MM had a nonrefuted diagnosis of NF2 after molecular studies, in comparison with 85 of 96 patients presenting with UVS and ≥2 NIDS (P ≤ .00001). Fifty percent of patients presenting with a UVS and ≥2 NIDS with NF2 developed bilateral VS, compared with only 26% of those who presented with a UVS and MM (P = .0046). In total, 11 of 152 patients presenting with MM without fulfilling NF2 criteria were found to have a PV in SMARCE1, and 7 of 152 were confirmed to have mosaic NF2. Conclusion: Patients presenting with UVS and MM are significantly more likely to have a nonrefuted diagnosis of NF2 than patients presenting with UVS and ≥2 NIDS, but significantly less likely to develop bilateral VS. Seven percent of those presenting with MM without meeting NF2 criteria had PV in SMARCE1, and 5% had mosaic NF2. (Copyright © Congress of Neurological Surgeons 2022. All rights reserved.)
Databáze:	MEDLINE
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