A Novel Treatment Approach in a Case of Mosaic Neurofibromatosis Type 2

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Identifier 20200308_nanos_posters_086
Title A Novel Treatment Approach in a Case of Mosaic Neurofibromatosis Type 2
Creator Aisha A. Mumtaz; Pooja Parikh; Rachid Aouchiche
Affiliation (AAM) (RA) University of Maryland Medical Center, Baltimore, Maryland; (PP) University of Texas at Austin Dell Medical School, Austin, Texas
Subject Tumors; Orbit/Ocular Pathology; Orbit; Genetic Disease
Description Neurofibromatosis type 2 (NF2) is a genetic syndrome caused by mutations in the NF2 gene resulting in tumors of the nervous system. While NF2 is commonly thought to follow an autosomal dominant inheritance pattern due to a mutation on chromosome 22 , we present a case of NF2 due to sporadic germline mosaicism. Our goal is to highlight the clinical presentation of a patient with radiological findings consistent with invasive meningioma in the setting of genetic features consistent with mosaic NF2, as well as novel treatment approaches for treatment of a complex high grade and refractory meningioma.
Date 2020-03
Language eng
Format application/pdf
Type Text
Source 2020 North American Neuro-Ophthalmology Society Annual Meeting
Relation is Part of NANOS Annual Meeting 2020: Poster Session I: Clinical Highlights
Collection Neuro-Ophthalmology Virtual Education Library: NANOS Annual Meeting Collection: https://novel.utah.edu/collection/nanos-annual-meeting-collection/
Publisher North American Neuro-Ophthalmology Society
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah
Rights Management Copyright 2020. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright
ARK ark:/87278/s6vf2746
Setname ehsl_novel_nam
ID 1539314
Reference URL https://collections.lib.utah.edu/ark:/87278/s6vf2746
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