Uma doença que aumenta a chance de a pessoa desenvolver tumores, caracterizada pelo surgimento de vários schwannomas (tumores que nascem nos nervos) e meningiomas (tumores que nascem nas membranas que protegem o cérebro e a medula espinhal).
Introdução
O que você precisa saber de cara
Uma doença que aumenta a chance de a pessoa desenvolver tumores, caracterizada pelo surgimento de vários schwannomas (tumores que nascem nos nervos) e meningiomas (tumores que nascem nas membranas que protegem o cérebro e a medula espinhal).
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Sinais e sintomas
O que aparece no corpo e com que frequência cada sintoma acontece
Partes do corpo afetadas
+ 27 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 65 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
1 gene identificado com associação a esta condição. Padrão de herança: Autosomal dominant.
Probable regulator of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway, a signaling pathway that plays a pivotal role in tumor suppression by restricting proliferation and promoting apoptosis. Along with WWC1 can synergistically induce the phosphorylation of LATS1 and LATS2 and can probably function in the regulation of the Hippo/SWH (Sav/Wts/Hpo) signaling pathway. May act as a membrane stabilizing protein. May inhibit PI3 kinase by binding to AGAP2 and impairing its stimulating activity. Suppress
Cell projection, filopodium membraneCell projection, ruffle membraneNucleusCytoplasm, perinuclear regionCytoplasmic granuleCytoplasm, cytoskeleton
Schwannomatosis, vestibular
An autosomal dominant neoplasia syndrome characterized by the development of multiple benign nerve sheath tumors called schwannomas, particularly affecting the vestibular nerve. Affected individuals usually present with bilateral vestibular schwannomas but can have schwannomas on other cranial, spinal, and peripheral/cutaneous nerves. Meningiomas are common, whereas 20 to 35% of affected individuals develop intramedullary spinal cord tumors called ependymomas. The condition is also characterized by several ophthalmic features such as lenticular opacities, retinal hamartoma, epiretinal membranes.
Medicamentos e terapias
Mecanismo: FK506-binding protein 1A inhibitor
Mecanismo: Dihydroorotate dehydrogenase inhibitor
Mecanismo: Hepatocyte growth factor receptor inhibitor
Mecanismo: Matrix metalloproteinase 7 inhibitor
Mecanismo: Matrix metalloproteinase 8 inhibitor
Variantes genéticas (ClinVar)
498 variantes patogênicas registradas no ClinVar.
Vias biológicas (Reactome)
2 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Schwannomatose de espectro clínico completo NF2-relacionada
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Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.
Pesquisa ativa
Ensaios clínicos abertos e novidades científicas recentes
Pesquisa e ensaios clínicos
Nenhum ensaio clínico registrado para esta condição.
Publicações mais relevantes
Inhibition of focal adhesion kinase impairs tumor formation and preserves hearing in a murine model of NF2-related schwannomatosis.
NF2 (neurofibromatosis type 2)-related schwannomatosis (NF2-SWN) is a cancer predisposition syndrome characterized by the development of bilateral vestibular (VS) and spinal schwannomas. While benign, these tumors can cause substantial morbidity, and effective pharmacological treatments remain limited. Here, we demonstrate that genetic ablation of focal adhesion kinase (Fak/Ptk2) impairs tumor formation and preserves hearing in a murine model of NF2. Mechanistically, we show that Fak deletion decreases macrophage infiltration, attenuates nucleotide-binding oligomerization domain-containing protein 2-, leucine rich repeats (LRR)- and pyrin domain-containing protein 3 inflammasome activation, and suppresses the hepatocyte growth factor-MET axis. Pharmacological inhibition of FAK with single agent VS-4718 did not significantly reduce macroscopic tumor volume; however, its use in combination with the mitogen-activated protein kinase kinase (MEK) inhibitor selumetinib resulted in both a significant reduction in tumor volume and the preservation of dorsal root ganglion architecture. Our findings establish a critical role for FAK in schwannoma development and provide rationale for evaluation of combination FAK plus MEK inhibition in future clinical trials for NF2-associated SWN.
Outcomes Following Proton Radiation for Pediatric Meningiomas.
Pediatric meningiomas make up 2% of all pediatric central nervous system tumors and are distinct from adult meningiomas, often coinciding with neurofibromatosis-2 (NF2). However, there is limited useful outcome data regarding pediatric meningiomas treated with radiation therapy (RT). We identified 18 pediatric patients with meningiomas treated at our institution between 2006 and 2024 with proton therapy (PT). All patients received a total dose of 50.4-59.4 Gy in 1.8 Gy/fraction daily, based on tumor grade. Nine patients had WHO Grade I meningiomas and nine had WHO Grade II meningiomas. Sixteen of 18 patients had gross disease at the time of RT. The male-to-female ratio was 1:1. Seven of 18 patients had an NF2 diagnosis. Kaplan-Meier statistical analysis was employed to estimate progression-free survival (PFS), local recurrence, and overall survival (OS) rates. We assessed toxicity during on-treatment visits and follow-ups based on severity and need for intervention. Median follow-up was 8.5 years (range: 0.5-18 years). No patients were lost to follow-up. At 10 years, local control was 87%, PFS was 75%, and OS was 94%. One patient died from a radiation-associated second neoplasm, and one died from cerebral vasculopathy occurring in the high-dose region. Other notable radiation-related toxicities included hearing loss (n = 1), cataract formation (n = 1), and endocrinopathy (n = 2). No patients had progressive vision loss. This study contributes to the limited data for children with meningioma requiring RT. Long-Term disease control was encouraging and aligned with adult meningioma data. Despite the use of PT, serious radiation toxicity was observed.
Radiological Spectrum of Central Nervous System Manifestations of Neurofibromatosis 2.
High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.
Following the recent introduction of molecular diagnosis criteria for schwannomatosis, we decided to study the results of somatic molecular testing in patients with a tumor burden suggestive of non-NF2-related Schwannomatosis, with a particular focus on patients harboring multi-nodular schwannomas. We selected 22 patients harboring multiple peripheral nerve schwannomas, with or without associated lumbar schwannomas after a brain and spine MRI workup ruling out cranial nerve schwannomas, meningiomas and ependymomas. For each patient, at least 2 separate anatomically distinct tumor nodules were available for analysis. We distinguished mono-nodular from multi-nodular tumors and performed targeted sequencing of the NF2, SMARCB1 and LZTR1 genes for all tumors and germline DNA when available. We analyzed 69 tumor nodules in 22 patients, 19 of whom had a non-familial disease. Most patients (54%) had a diffuse schwannomatosis. Following germline and somatic genetic analysis, 11 patients were diagnosed with LZTR1-related schwannomatosis (50%), 3 patients with possible LZTR1- or SMARCB1-related Schwannomatosis (14%), 7 patients with mosaic NF2-related Schwannomatosis (32%), and 1 patient with 22q-related schwannomatosis (4%). Patients with multi-nodular schwannomas (n = 9), all with a non-familial disease, harbored a mosaic NF2-related Schwannomatosis in a majority of cases (5/9; 55%; p = 0.02), while patients with mononodular schwannomas harbored more frequently a LZTR1-related Schwannomatosis (9/13; 69%; p = 0.03). This study illustrates the underestimated high frequency of mosaic NF2-related schwannomatosis in patients harboring multi-nodular peripheral nerve schwannomas. As multi-nodular schwannomas are associated with higher surgical morbidity, the pivotal role of the NF2 gene in their tumorigenesis opens perspectives for Schwannomatosis research.
Incidence of meningioma in women with a history of combined oral contraceptive pill use and polycystic ovary syndrome.
Meningiomas, benign central nervous system tumors, express progesterone and estrogen receptors. Their proliferation has been associated with hormonal and demographic factors, including female sex, obesity, and race. Prior studies on oral contraceptive pill (OCP) use and meningioma risk have been limited in their analysis of the modifying effects of race, obesity, and polycystic ovary syndrome (PCOS). To assess the association between combined OCP use and meningioma development, and to assess how race, obesity, and PCOS influence this relationship. Retrospective cohort study using aggregated electronic health record data in Epic Cosmos. Women aged 13-50 from 2005 to 2023 with and without combined OCP use were identified. Patients with history of radiation, neurofibromatosis 2, progestin-only contraceptive use, and hormone replacement therapy were excluded. The cohort was then stratified by PCOS status, obesity, and race. Combined OCP users saw a 40% lower risk of meningioma compared to non-users. PCOS was associated with a bidirectional effect on meningioma risk, modified by obesity. Among patients with obesity, those with PCOS had a 30% lower risk of developing meningioma compared to those without PCOS. Among non-obese patients, those with PCOS had a 108% greater risk of developing meningioma compared to those without PCOS. After adjusting for both PCOS and obesity, women with a history of combined OCP usage had 42% reduced odds of developing meningioma. When stratified by race, combined OCP use was associated with 47% decreased risk in White patients, 34% lower risk in Black patients, and 28% lower risk in Asian patients. Controlling for race overall, combined OCP use remained significantly protective, with 43% reduced odds of meningioma development. Findings suggest a potential protective association between combined OCP use and meningioma that remained significant after controlling for obesity, PCOS status, and race. Additionally, this study found that meningioma risk in patients with PCOS differed based on obesity status.
Publicações recentes
Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.
New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective.
Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh.
📚 EuropePMCmostrando 197
High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.
Human geneticsRadiological Spectrum of Central Nervous System Manifestations of Neurofibromatosis 2.
Neurology IndiaIncidence of meningioma in women with a history of combined oral contraceptive pill use and polycystic ovary syndrome.
Women's health (London, England)A cochlea-sparing strategy for non-invasive control of intracranial schwannomas via peripheral irradiation and anti-PD-1 therapy enhanced by STING activation.
TheranosticsClinical Parameters and Radiomics of Vestibular Schwannomas in NF2-related Schwannomatosis.
Anticancer researchInhibition of focal adhesion kinase impairs tumor formation and preserves hearing in a murine model of NF2-related schwannomatosis.
Science advancesIntralabyrinthine MRI FLAIR as a predictive marker for hearing loss in vestibular schwannomas in Neurofibromatosis Type 2.
Journal of neuro-oncologyMolecular and genetic insights into vestibular schwannoma.
Journal of neuro-oncologyOutcomes Following Proton Radiation for Pediatric Meningiomas.
Pediatric blood & cancerTumor Control After Radiosurgery in Sporadic and Neurofibromatosis Type 2 Vestibular Schwannomas.
Cancer medicineFocused ultrasound-mediated drug delivery of bevacizumab in treating NF2-related schwannomatosis in an animal model.
Scientific reportsThe tumour immune microenvironment is enriched but suppressed in vestibular schwannoma compared to meningioma: therapeutic implications for NF2-related schwannomatosis.
Acta neuropathologica communicationsSurgery in NF2-Schwannomatosis.
Familial cancer"It's not any one thing, it's always all of them, all at the same time": quality of life in NF2-related schwannomatosis from patient and clinician perspectives.
Familial cancerDecoding Meningioangiomatosis: A Century of Insights into Molecular Mechanisms, Clinical Dilemmas, and Therapeutic Innovations.
World neurosurgeryThe clinical spectrum of paediatric NF2- related schwannomatosis.
Familial cancerThe Association Between Age and Outcomes of Bevacizumab Treatment in NF2-Related Schwannomatosis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyHybrid neurofibroma/schwannoma in schwannomatosis-a diagnostically challenging benign peripheral nerve sheath tumour.
Familial cancerAutomated Segmentation of Bilateral Vestibular Schwannoma in Neurofibromatosis 2 (NF2).
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyMalignant peripheral nerve sheath tumors in schwannomatosis: systematic review and meta-analysis.
Journal of neurosurgeryMalignant peripheral nerve sheath tumors in schwannomatosis: a case series.
Journal of neurosurgeryMapping the Somatic Mutation Landscape of Familial NF2-Related Schwannomatosis using Whole-Exome Sequencing.
International journal of medical sciencesHistory and clinical epidemiology of NF2-related schwannomatosis.
Familial cancerSmall Extracellular Vesicles Derived from NF2-Associated Schwannoma Cells Modulate Tumor Progression and Immunity via HSP90.
Current oncology (Toronto, Ont.)Efficacy of first line of bevacizumab in patients with neurofibromatosis 2-related vestibular schwannomas.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck SurgeryClinical evaluation and investigation of vestibular schwannoma in NF2-related schwannomatosis.
Handbook of clinical neurologyDecision-making in neurofibromatosis type 2.
Handbook of clinical neurologyMedical therapy for vestibular schwannoma.
Handbook of clinical neurologyClinical epidemiology of NF2-related schwannomatosis.
Handbook of clinical neurologyNeurofibromatosis 2 alleviates ferroptosis and fibrosis in the aortas of spontaneously hypertensive rats through the Yes-associated protein pathway.
Journal of hypertensionPrevalence, natural history and surgical outcome of spinal meningiomas in NF2-related schwannomatosis.
Journal of neuro-oncology[Management of Neurofibromatosis Type 2].
No shinkei geka. Neurological surgery[Molecular Pathogenesis, Genetic Profiles, and Therapeutic Strategies for NF2-Related Schwannomatosis].
No shinkei geka. Neurological surgeryOptic nerve sheath diameter measurements monitor the impact of venous sinus stenosis and surgery on intracranial pressure in NF2 meningioma patients.
Scientific reportsMerlin immunohistochemistry is a reliable surrogate marker for NF2 gene alterations in meningioma.
HistopathologyNeurofibromatosis type 2: A challenging case report and multidisciplinary management approach.
JPMA. The Journal of the Pakistan Medical AssociationClinician Perspectives of a Magnetic Resonance Imaging-Based 3D Volumetric Analysis Tool for Neurofibromatosis Type 2-Related Schwannomatosis: Qualitative Pilot Study.
JMIR human factorsGenetic Landscape of a Pleural Mesothelioma in a Child Affected by NF2-Related Schwannomatosis.
International journal of molecular sciencesPyrimidine addiction: an Achilles' heel of NF2-altered mesothelioma.
EMBO molecular medicinePredicting epilepsy in patients diagnosed with intracranial meningiomas: A systematic review and meta-analysis of clinical and anatomical risk factors.
Journal of clinical neuroscience : official journal of the Neurosurgical Society of AustralasiaPapilledema in NF2-related Schwannomatosis without Ventriculomegaly and Overt Intracranial Hypertension: A Case Series and Literature Review.
NMC case report journalIncreased Hemorrhage During Excision of Bevacizumab-Treated NF2-Related Vestibular Schwannomas.
The LaryngoscopeQuality of life assessment in schwannomatosis - A systematic review.
Brain & spineWhole Body-MRI assessment of peripheral lesions in patients with NF2-related schwannomatosis on systemic bevacizumab.
Journal of neuro-oncologyMerlin immunoreactivity fails to predict neurofibromatosis type 2 mutations in human meningiomas.
Journal of neuropathology and experimental neurologyEffect of bevacizumab on non-target intracranial meningiomas and non-vestibular schwannomas in NF2-related schwannomatosis: NF104.
Journal of neuro-oncologyChronic Pain in Neurofibromatosis 1, Neurofibromatosis 2, and Schwannomatosis: A Review on Epidemiology, Pathophysiology, Symptomatology and Treatment.
Pain physicianGenetic Analysis of Intracranial Schwannomas: Differential NF2 Alteration Frequencies in Nonvestibular Schwannomas Versus Vestibular Schwannomas.
NeurosurgeryMultiplatform molecular analyses reveal two molecular subgroups of NF2-related schwannomatosis vestibular schwannomas with distinct tumour microenvironment and therapeutic vulnerabilities.
Acta neuropathologicaRadiomics for Growth Prediction of Vestibular Schwannomas in Neurofibromatosis Type 2.
Anticancer researchHigh de novo mutation rate in Iranian NF2-related schwannomatosis patients with a report of a novel NF2 mutation.
Molecular biology reportsGammaKnife radiosurgery for meningiomas in neurofibromatosis type II patients: a systematic review and meta-analysis.
Neurosurgical reviewStereotactic radiosurgery for vestibular schwannomas in neurofibromatosis type 2: a systematic review and meta-analysis.
BMC cancerA single-cell atlas of Schwannoma across genetic backgrounds and anatomic locations.
Genome medicineGamma Knife radiosurgery in a cohort of neurofibromatosis type 2-associated and sporadic pediatric meningiomas and schwannomas.
Journal of neurosurgery. PediatricsInteractions among Merlin, Arkadia, and SKOR2 mediate NF2-associated human Schwann cell proliferation.
Stem cell research & therapySpatial mapping of immune cell environments in NF2-related schwannomatosis vestibular schwannoma.
Nature communicationsClinical and Genetic Overview of Neurofibromatosis Type 2 (NF2).
Journal of Korean Neurosurgical SocietyUnusual fundus lesion in mosaic neurofibromatosis type 2.
Ophthalmic geneticsGene therapy and genome-editing for schwannoma in NF2-related schwannomatosis: current understanding and future directions.
Journal of neuro-oncologyGenetic Basis and Clinical Management of Schwannomatosis.
Journal of Korean Neurosurgical SocietyNF2-related schwannomatosis: A view from within the inner ear.
Hearing researchHybrid nerve sheath tumor of the spinal canal and neurofibromatosis-2, where the twain shall meet-a case report and review of literature.
Journal of medical case reportsManagement Strategies of Neurofibromatosis Type 2 in Pediatric Patients : Challenges and Emerging Therapies.
Journal of Korean Neurosurgical SocietyIncreased Costs and Complication Rates in Vestibular Schwannoma Resections for Neurofibromatosis Type 2.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyCase Report: Contralateral Progression of a Vestibular Schwannoma After Resection in a Patient with Neurofibromatosis Type 2.
Neurosurgery practiceUpdate on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis.
Clinical cancer research : an official journal of the American Association for Cancer ResearchCase report: Clonal evolution analysis of a rare case of meningioma lung metastases identifies actionable alterations in matched longitudinal tumour samples.
Frontiers in oncologyNF2 is Essential for Human Endoderm Development.
Advanced science (Weinheim, Baden-Wurttemberg, Germany)Cochlear implantation in vestibular schwannoma: A game changer? A narrative review.
Brazilian journal of otorhinolaryngologyGamma knife stereotactic radiosurgery for neurofibromatosis 2 (NF2)-associated meningiomas; a systematic review and meta-analysis.
Acta neurochirurgicaWWC proteins-mediated compensatory mechanism restricts schwannomatosis driven by NF2 loss of function.
Science advancesComparison of 1D and 3D volume measurement techniques in NF2-associated vestibular schwannoma monitoring.
Scientific reportsRole of NF2 Mutation in the Development of Eleven Different Cancers.
CancersClassification of schwannomas and the new naming convention for "neurofibromatosis-2": Genetic updates and international consensus recommendation.
The neuroradiology journalClinical severity grading of NF2-related schwannomatosis.
Orphanet journal of rare diseasesTherapeutic effect of novel drug candidate, PRG-N-01, on NF2 syndrome-related tumor.
Neuro-oncologyPhase II Study of Defactinib (VS6063) in Patients With Tumors With NF2 Loss: Results From the NCI-MATCH ECOG-ACRIN Trial (EAY131) Subprotocol U.
JCO precision oncologyHyperostotic meningiomas in children. A case-based update.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryNeurofibromatosis type 2-related schwannomatosis - An update.
Seminars in pediatric neurologyPrimary and salvage radiosurgery for neurofibromatosis type 2-associated meningiomas.
Journal of neurosurgeryNF2 with NF1 Features a Unique Overlap.
Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of IndiaPresenting characteristics and clinical outcomes of idiopathic versus neurofibromatosis type 2-associated spinal meningiomas: a retrospective institutional experience.
Journal of neurosurgery. SpineNeurofibromatosis type-2-related schwannomatosis presenting as peripapillary hamartoma: report on a novel NF2 mutation.
Ophthalmic geneticsEffectiveness of CI as an alternative to ABI for hearing loss in patients with vestibular schwannomas: A multicenter study in Japan.
Auris, nasus, larynxGeneration of a zebrafish neurofibromatosis model via inducible knockout of nf2a/b.
Disease models & mechanisms[Living with… neurofibromatosis type 2].
La Revue du praticienLong-term analysis of ABI auditory performance in patients with neurofibromatosis type 2-related schwannomatosis.
Acta neurochirurgicaSynergistic effects of combined BET and FAK inhibition against Vestibular Schwannomas in NF2-related Schwannomatosis.
OncogeneGenetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis.
Journal of medical geneticsQuality of life and neurological symptoms in patients with neurofibromatosis type 2: a national database study in Japan.
Environmental health and preventive medicineCorrelation between natural history and multi-omics profiling of meningiomas in NF2-related schwannomatosis suggests role of methylation group and immune microenvironment in tumor growth rate.
Acta neuropathologicaDeath in a bathtub of an adolescent with neurofibromatosis type 2 exhibiting meningioangiomatosis with white matter involvement.
Forensic science, medicine, and pathologyTargeting MERTK on tumour cells and macrophages: a potential intervention for sporadic and NF2-related meningioma and schwannoma tumours.
OncogeneSynergistic effect of PAK and Hippo pathway inhibitor combination in NF2-deficient Schwannoma.
PloS oneFactors Affecting Speech Discrimination After Vestibular Schwannoma Resection.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyPlatform trial design for neurofibromatosis type 1, NF2-related schwannomatosis and non-NF2-related schwannomatosis: A potential model for rare diseases.
Neuro-oncology practiceThe molecular biology of NF2/Merlin on tumorigenesis and development.
FASEB journal : official publication of the Federation of American Societies for Experimental BiologySpectrum of cutaneous lesions in a cohort of patients with neurofibromatosis type 2.
International journal of dermatologyNF2-Related Schwannomatosis (NF2): Molecular Insights and Therapeutic Avenues.
International journal of molecular sciencesNF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study.
Journal of medical geneticsBrigatinib in NF2-Related Schwannomatosis with Progressive Tumors.
The New England journal of medicineHistorical Development of Diagnostic Criteria for NF2-related Schwannomatosis.
Neurologia medico-chirurgicaG6PD and ACSL3 are synthetic lethal partners of NF2 in Schwann cells.
Nature communicationsPD-L1 regulates tumor proliferation and T-cell function in NF2-associated meningiomas.
CNS neuroscience & therapeuticsPhase I/II Study of a Vascular Endothelial Growth Factor Receptor Vaccine in Patients With NF2-Related Schwannomatosis.
Journal of clinical oncology : official journal of the American Society of Clinical OncologyTumors of the nervous system and hearing loss: Beyond vestibular schwannomas.
Hearing researchMeningioma: International Consortium on Meningiomas consensus review on scientific advances and treatment paradigms for clinicians, researchers, and patients.
Neuro-oncologyThe histone lysine acetyltransferase KAT2B inhibits cholangiocarcinoma growth: evidence for interaction with SP1 to regulate NF2-YAP signaling.
Journal of experimental & clinical cancer research : CRNatural history of hearing and tumor growth in vestibular schwannoma in neurofibromatosis type 2-related schwannomatosis.
European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery[Auditory brainstem implant: current states and future prospects].
Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgeryFour distinct ipsilateral vestibular schwannomas: A case of mosaic NF2-related schwannomatosis.
American journal of clinical pathologyThe impact of mental health on health-related quality of life in patients with NF2-related Schwannomatosis.
Scientific reports[Neurofibromatosis type 2 in the otorhinolaryngological practice].
Vestnik otorinolaringologiiCochlear Implantation in Neurofibromatosis Type 2-Related Schwannomatosis: Long-Term Hearing Outcomes.
Otolaryngology--head and neck surgery : official journal of American Academy of Otolaryngology-Head and Neck SurgeryA rare case of schwannomatosis with meningioma: a case report.
Annals of medicine and surgery (2012)An unusual finding of an anaplastic meningioma in NF2-related schwannomatosis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryIncidence of tethered cord syndrome in neurofibromatosis types 1 and 2 pediatric patients: a population-level analysis.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryUnilateral Multifocal Inner Ear and Internal Auditory Canal or Cerebellopontine Angle Cochleovestibular Schwannomas-Genetic Analysis and Management by Surgical Resection and Cochlear Implantation.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyAuditory brainstem implants for hearing rehabilitation in NF2-schwannomatosis: A systematic review and single-arm meta-analysis.
NeuroRehabilitationImaging as an early biomarker to predict sensitivity to everolimus for progressive NF2-related vestibular schwannoma.
Journal of neuro-oncologyNavigating Uncharted Waters: Comparative Analysis of Clinical Progression and Outcomes in Vestibular Schwannoma Patients with Papilledema and without Hydrocephalus, Versus Those without Papilledema and Hydrocephalus: A Comprehensive Institutional Insight.
World neurosurgerySimultaneous inhibition of PI3K and PAK in preclinical models of neurofibromatosis type 2-related schwannomatosis.
OncogenePatient-reported measures of tinnitus for individuals with neurofibromatosis type 2-related schwannomatosis: Recommendations for clinical trials.
Clinical trials (London, England)Characteristics of MicroRNA Expression Depending on the Presence or Absence of Meningioma in Patients with Neurofibromatosis Type 2: A Secondary Analysis.
Neurologia medico-chirurgicaFunctional interactions between neurofibromatosis tumor suppressors underlie Schwann cell tumor de-differentiation and treatment resistance.
Nature communicationsActivation of the melanocortin-1 receptor attenuates neuronal apoptosis after traumatic brain injury by upregulating Merlin expression.
Brain research bulletinLong-term outcomes of stereotactic radiosurgery for intracranial schwannoma in neurofibromatosis type 2: a genetic analysis perspective.
Journal of neuro-oncologyResiliency outcomes after participation in an asynchronous web-based platform for adults with neurofibromatosis: The NF-Web study.
PloS oneIdentification of hub genes and drug candidates for NF2-related vestibular schwannoma by bioinformatics tools.
MedicineCase report of selumetinib as a novel therapy in a neurofibromatosis type 2-associated ependymoma.
Molecular therapy. Methods & clinical developmentPerspectives of adults with neurofibromatosis regarding the design of psychosocial trials: Results from an anonymous online survey.
Clinical trials (London, England)Multidisciplinary neurofibromatosis conference in the management of patients with neurofibromatosis type 1 and schwannomatosis in a single tertiary care institution.
Skeletal radiologyGene-targeted therapy for neurofibromatosis and schwannomatosis: The path to clinical trials.
Clinical trials (London, England)Extraordinary Speech and Language Outcomes After Auditory Brainstem Implantation: Guidance From a Case Study.
American journal of audiologyRecommendations for the collection and annotation of biosamples for analysis of biomarkers in neurofibromatosis and schwannomatosis clinical trials.
Clinical trials (London, England)Bilateral intracochlear schwannomas: histopathological confirmation and outcomes following tumour removal and cochlear implantation with lateral wall electrodes.
HNOSporadic vestibular schwannoma in a pediatric population: a case series.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryComparing Speech Recognition Outcomes Between Cochlear Implants and Auditory Brainstem Implants in Patients With NF2-Related Schwannomatosis.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologySurgical management of sporadic and schwannomatosis-associated pelvic schwannomas.
Neurosurgical reviewWithdrawal of bevacizumab is associated with rebound growth of vestibular schwannomas in neurofibromatosis type 2-related schwannomatosis patients.
Neuro-oncology advancesNew classification and approaches to the treatment of schwannomatosis.
Zhurnal voprosy neirokhirurgii imeni N. N. BurdenkoSchwannomatosis: a Realm Reborn: year one.
Current opinion in oncologyBrazilian Society of Otology task force - Vestibular Schwannoma ‒ evaluation and treatment.
Brazilian journal of otorhinolaryngologyMeningiomas in patients with neurofibromatosis type 2 predominantly comprise 'immunogenic subtype' tumours characterised by macrophage infiltration.
Acta neuropathologica communications[Schwannoma, Neurofibromatosis Type 2, and Schwannomatosis in the 2021 WHO Classification of Tumors of the Central Nervous System].
No shinkei geka. Neurological surgeryIncidence and prevalence of neurofibromatosis type 1 and 2: a systematic review and meta-analysis.
Orphanet journal of rare diseasesLong-term clinical outcomes of stereotactic radiotherapy for bilateral vestibular schwannomas in neurofibromatosis type 2 patients.
Journal of neuro-oncologyLongitudinal Performance of Cochlear Implants in Neurofibromatosis Type 2.
The LaryngoscopeElectrically evoked auditory responses: A classification for brainstem implant placement in Neurofibromatosis Type 2.
Clinical neurophysiology : official journal of the International Federation of Clinical NeurophysiologyFractionated Stereotactic Radiotherapy Compared to Stereotactic Radiosurgery for Vestibular Schwannoma in Patients with Type 2 Neurofibromatosis.
World neurosurgeryAtypical Intraparenchymal Meningioma with YAP1-MAML2 Fusion in a Young Adult Male: A Case Report and Mini Literature Review.
International journal of molecular sciencesLoss of social independence in patients with neurofibromatosis type 2: a follow-up study using a national registry in Japan.
Environmental health and preventive medicineIschemic Cerebellar Stroke in a Young Patient With Neurofibromatosis Type 2: A Case Report.
South Dakota medicine : the journal of the South Dakota State Medical AssociationHearing Rehabilitation in Patients With Neurofibromatosis Type 2: The Quebec's Experience With Auditory Implants.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyCotargeting Phosphoinositide 3-Kinase and Focal Adhesion Kinase Pathways Inhibits Proliferation of NF2 Schwannoma Cells.
Molecular cancer therapeuticsRetinal astrocytic hamartoma: A rare ocular presentation in neurofibromatosis type 2.
Journal francais d'ophtalmologieLetter: Stereotactic Radiosurgery for Vestibular Schwannoma in Neurofibromatosis Type 2: An International Multicenter Case Series of Response and Malignant Transformation Risk.
NeurosurgeryCases of Mixed Schwannoma-Meningioma With and Without Neurofibromatosis 2 with Emphasis on Tumorigenesis.
International journal of surgical pathologyNeurofibromatosis- and schwannomatosis-associated tumors: Approaches to genetic testing and counseling considerations.
American journal of medical genetics. Part ACurrent progress in genomics and targeted therapies for neurofibromatosis type 2.
Fukushima journal of medical scienceCochlear Implant Outcomes between Patients with Sporadic and Neurofibromatosis Type 2-Associated Vestibular Schwannoma.
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and NeurotologyGenomic Landscape of Meningiomas.
Advances in experimental medicine and biologyLiving with neurofibromatosis.
Clinical and experimental dermatologySporadic and neurofibromatosis type 2-associated meningioma in children and adolescents.
Journal of neuro-oncologyRadiogenomics in NF2-Associated Schwannomatosis (Neurofibromatosis Type II): Exploratory Data Analysis.
Studies in health technology and informatics[Clinical features and genetic analysis of a patient with type 2 neurofibromatosis manifested as oculomotor nerve palsy].
Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical geneticsMiniature Palpebral Plexiform Neurofibroma in Neurofibromatosis Type 2.
Ophthalmic plastic and reconstructive surgeryA Bilateral Vestibular Schwannoma is Not Always Related to Neurofibromatosis Type 2.
The journal of international advanced otologyProspective phase II trial of the dual mTORC1/2 inhibitor vistusertib for progressive or symptomatic meningiomas in persons with neurofibromatosis 2.
Neuro-oncology advancesDeletion of Cd44 Inhibits Metastasis Formation of Liver Cancer in Nf2-Mutant Mice.
CellsOvarian epithelioid malignant peripheral nerve sheath tumor with EWSR1-CREM fusion: A case report and literature review.
International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and ObstetricsUpdates on Tumor Biology in Vestibular Schwannoma.
Otolaryngologic clinics of North AmericaConsensus recommendations on counselling in Phelan-McDermid syndrome, with special attention to recurrence risk and to ring chromosome 22.
European journal of medical geneticsCorrelation between genotype and phenotype with special attention to hearing in 14 Japanese cases of NF2-related schwannomatosis.
Scientific reportsNeurofibromatosis Type II and Facial Paralysis: Clinical Evaluation and Management.
Plastic and reconstructive surgeryA rare case of aggressive phenotype (Wishart) of neurofibromatosis type 2.
Indian journal of dermatology, venereology and leprologySRS for Vestibular Schwannomas - Current Status.
Neurology IndiaTargeted Therapies in the Treatment of Vestibular Schwannomas: Current State and New Horizons.
Otolaryngologic clinics of North AmericaCochlear Implantation in Sporadic Vestibular Schwannoma and Neurofibromatosis Type II.
Otolaryngologic clinics of North AmericaThe Future of Vestibular Schwannoma Management.
Otolaryngologic clinics of North AmericaMulticenter, prospective, phase II study of maintenance bevacizumab for children and adults with NF2-related schwannomatosis and progressive vestibular schwannoma.
Neuro-oncologyProton Radiotherapy for Vestibular Schwannomas in Patients with NF2-Related Schwannomatosis: A Case Series.
Current oncology (Toronto, Ont.)Renal Cell Carcinoma Unclassified with Medullary Phenotype in a Patient with Neurofibromatosis Type 2.
Current oncology (Toronto, Ont.)Management of Neurofibromatosis Type 2-Associated Vestibular Schwannomas.
Otolaryngologic clinics of North AmericaCellular mechanisms of heterogeneity in NF2-mutant schwannoma.
Nature communicationsAdvances in Targeted Therapy for Neurofibromatosis Type 2 (NF2)-Associated Vestibular Schwannomas.
Current oncology reportsStereotactic Radiosurgery for Vestibular Schwannoma in Neurofibromatosis Type 2: An International Multicenter Case Series of Response and Malignant Transformation Risk.
NeurosurgeryGenetic variants of cancer‑associated genes analyzed using next‑generation sequencing in small sporadic vestibular schwannomas.
Oncology lettersMerlin tumor suppressor function is regulated by PIP2-mediated dimerization.
PloS oneProteasomal pathway inhibition as a potential therapy for NF2-associated meningioma and schwannoma.
Neuro-oncologyNeurofibromatosis Type 2-Yes-Associated Protein and Transcriptional Coactivator With PDZ-Binding Motif Dual Immunohistochemistry Is a Reliable Marker for the Detection of Neurofibromatosis Type 2 Alterations in Diffuse Pleural Mesothelioma.
Modern pathology : an official journal of the United States and Canadian Academy of Pathology, IncUpdated protocol for genetic testing, screening and clinical management of individuals at risk of NF2-related schwannomatosis.
Clinical geneticsUpdates in the Management of Central and Peripheral Nervous System Tumors among Patients with Neurofibromatosis Type 1 and Neurofibromatosis Type 2.
Pediatric neurosurgeryTreatment of neurofibromatosis type II with anlotinib: a case report and literature review.
Anti-cancer drugsCommentary: Surgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2.
NeurosurgerySurgical Management of Peripheral Nerve Pathology in Patients With Neurofibromatosis Type 2.
NeurosurgeryAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Inhibition of focal adhesion kinase impairs tumor formation and preserves hearing in a murine model of NF2-related schwannomatosis.
- Outcomes Following Proton Radiation for Pediatric Meningiomas.
- Radiological Spectrum of Central Nervous System Manifestations of Neurofibromatosis 2.
- High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.
- Incidence of meningioma in women with a history of combined oral contraceptive pill use and polycystic ovary syndrome.
- Measuring economic burden in families of individuals with Angelman Syndrome in Poland: a caregivers' survey.
- New pharmacotherapies for the erythropoietic protoporphyrias: an analysis of trial protocols from a patient perspective.
- Molecular analysis of inherited disorders of cornification in polish patients show novel variants and functional data and provokes questions on the significance of secondary findings.
- Lamb-Shaffer syndrome: 20 Spanish patients and literature review expands the view of neurodevelopmental disorders caused by SOX5 haploinsufficiency.
- Thalassemia and hemoglobinopathy prevalence in a community-based sample in Sylhet, Bangladesh.
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:637(Orphanet)
- OMIM OMIM:101000(OMIM)
- MONDO:0007039(MONDO)
- GARD:7193(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q847605(Wikidata)
Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
