Neurofibromatosis type 2 and related disorders

Purpose of review Neurofibromatosis type 2 (NF2) is a schwannoma predisposition syndrome, alongside schwannomatosis related to germline LZTR1 and SMARCB1 pathogenic variants. This review highlights their overlapping phenotypes, new insight into NF2 phenotype and treatment outcomes. Recent findings Mosaic NF2 is more prevalent than previously thought. Use of next-generation sequencing and tumour testing is needed to differentiate mosaic NF2 and schwannomatosis. Developing NF2 phenotypic insights include vasculopathy with brainstem infarction and vessel stenosis; focal cortical dysplasia in severe phenotypes; swallowing/speech difficulties and continued debate into malignancy in NF2. Proposed are: use of visual evoked potentials to monitor optic nerve sheath meningioma; potential routine magnetic resonance angiogram in adolescence and a genetic score to cohort patients with similar pathogenic_variants, for natural history/treatment outcome studies. Cohort studies found survival analysis to hearing loss and unilateral visual loss in severe mutation groups was 32 and 38 years; active management gave better outcomes than surveillance in spinal ependymoma; gamma knife, bevacizumab and hearing preservation surgery maintained or improved short-term hearing in selected patients, and gamma knife had a good long-term tumour control in mild patients with small tumours. Summary Further long-term outcome studies are needed comparing similar severity patients to allow informed decis...
Source: Current Opinion in Oncology - Category: Cancer & Oncology Tags: HEMATOLOGIC MALIGNANCIES: Edited by Miguel A. Sanz Source Type: research

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Objective The association between patient-reported outcomes and currently used clinical trial endpoints, including total vestibular schwannoma (VS) volume and word recognition score (WRS) in neurofibromatosis type 2 (NF2), is not known. Methods A prospective observational study enrolling adult patients with NF2 was conducted at a single specialty center. Measures included: NF2 impact on quality of life (NFTI-QOL), short form (SF)-36; total VS volume, WRS; provider- and patient-reported disease severity (ProvSev, PatSev) measured with an institutionally derived multi-item (e.g., symptom burden, age-of-onset, and fatality-r...
Source: Neurology Clinical Practice - Category: Neurology Authors: Tags: Quality of life, Spinal cord tumor, Nerve tumor, Clinical trials Observational study (Cohort, Case control), Neurofibromatosis Research Source Type: research
AbstractNeurofibromatosis type II (NF2) is a tumor predisposition syndrome characterized by the development of distinctive nervous system lesions. NF2 results from loss-of-function alterations in theNF2 gene on chromosome 22, with resultant dysfunction of its protein product merlin. NF2 is most commonly associated with the development of bilateral vestibular schwannomas; however, patients also have a predisposition to development of other tumors including meningiomas, ependymomas, and peripheral, spinal, and cranial nerve schwannomas. Patients may also develop other characteristic manifestations such as ocular lesions, neu...
Source: Acta Neuropathologica - Category: Neurology Source Type: research
Abstract Neurofibromatosis type 2 is an inherited, neoplastic disease associated with schwannomas, meningiomas, and ependymomas and that is caused by inactivation of the tumor suppressor gene NF2 The NF2 gene product, Merlin, has no intrinsic catalytic activity; its tumor suppressor function is mediated through the proteins with which it interacts. We used proximity biotinylation followed by mass spectrometry and direct binding assays to identify proteins that associated with wild-type and various mutant forms of Merlin in immortalized Schwann cells. We defined a set of 52 proteins in close proximity to wild-type ...
Source: Science Signaling - Category: Biomedical Science Authors: Tags: Sci Signal Source Type: research
Neurofibromatosis type 2 is an inherited, neoplastic disease associated with schwannomas, meningiomas, and ependymomas and that is caused by inactivation of the tumor suppressor gene NF2. The NF2 gene product, Merlin, has no intrinsic catalytic activity; its tumor suppressor function is mediated through the proteins with which it interacts. We used proximity biotinylation followed by mass spectrometry and direct binding assays to identify proteins that associated with wild-type and various mutant forms of Merlin in immortalized Schwann cells. We defined a set of 52 proteins in close proximity to wild-type Merlin. Most of t...
Source: Signal Transduction Knowledge Environment - Category: Science Authors: Tags: STKE Research Resources Source Type: news
In conclusion, group 3 phenotype manifests earlier with greater tumour load, poorer visual outcomes and more intervention. PMID: 30993672 [PubMed - as supplied by publisher]
Source: Clinical Genetics - Category: Genetics & Stem Cells Authors: Tags: Clin Genet Source Type: research
We present a case with café au lait macules, neurofibromas in the skin, bilateral VIII cranial nerve schwannomas, multiple meningiomas in the brain and spine, ependymomas in the brain and spine, and schwannomas in the cauda equina nerve roots.
Source: Medical Journal Armed Forces India - Category: General Medicine Source Type: research
Authors: Sofuo─člu ÖE, Abdallah A Abstract BACKGROUND The aim of this study was to assess the clinical and radiological outcomes of surgical treatment for primary spinal ependymoma in children. MATERIAL AND METHODS Medical records of 46 primary spinal ependymoma patients who underwent surgery in BRSHH hospital during a 12-year period from 2004 to 2015 were retrospectively reviewed. All pediatric patients (patient age
Source: Medical Science Monitor - Category: Research Tags: Med Sci Monit Source Type: research
AbstractNeurofibromatosis type 2 (NF-2) is associated with mainly three types of recurrent benign tumors restricted to the central nervous system: schwannoma, meningioma and ependymoma. The absence of the protein NF2/Merlin causes an uninterrupted cell proliferation cascade originating from an abnormal interaction between an extracellular mucopolysaccharide, hyaluronan (HA), and schwann cell surface CD44 receptor, which has been identified as one of the central causative factors for schwannoma. Most tumors in NF-2 have a predilection to originate from either arachnoid cap cells or schwann cells of the cisternal portion of ...
Source: Cancer Microenvironment - Category: Cancer & Oncology Source Type: research
In this report, we discuss the clinical and magnetic resonance imaging findings in a 17-year-old patient with neurofibromatosis type 2, who had extensive cranial nerves involvement (3rd–12th cranial nerves) along with spinal involvement. It is very rare to find tumors affect nearly all cranial nerves (namely 3rd–12th nerves), and their association with meningiomas and intramedullary spinal cord tumors in the same patient.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research
CONCLUSION: There is a large spectrum of ocular-specific findings in NF2. These are seminal, especially at an early age, enabling an early diagnosis and timely therapy of further tumor manifestations. Retinal astrocytic hamartomas may be very discreet and easily missed on routine examination. Fundus infrared imaging is a useful tool allowing to detect even discreet changes rarely seen by ophthalmoscopy in young children. This allows for a more extensive evaluation by SD-OCT. PMID: 29534265 [PubMed - in process]
Source: Klinische Monatsblatter fur Augenheilkunde - Category: Opthalmology Tags: Klin Monbl Augenheilkd Source Type: research
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