"Schwannomatosis"

NF2-related schwannomatosis and other schwannomatosis: an updated genetic and epidemiological study. New diagnostic criteria for NF2-related schwannomatosis (NF2) were published in 2022. An updated UK prevalence was generated in accordance with these, with an emphasis on the rate of de novo NF2 (a 50% frequency is widely quoted in genetic counselling). The distribution of variant types among de (24.8%) of people with an established variant, but only 18/235 (7.7%) with an inherited pathogenic variant (p<0.0001). Missense variants had the highest proportion of familial association (56%). The prevalence of -related schwannomatosis and -related schwannomatosis was 1 in 527 000 and 1 in 1.1M, respectively, 8.4-18.4 times lower than NF2. This work confirms a much higher rate of de novo NF2 than

Brigatinib in NF2-Related Schwannomatosis with Progressive Tumors. -related schwannomatosis (-SWN, formerly called neurofibromatosis type 2) is a tumor predisposition syndrome that is manifested by multiple vestibular schwannomas, nonvestibular schwannomas, meningiomas, and ependymomas. The condition is relentlessly progressive with no approved therapies. On the basis of preclinical activity

NF2-related schwannomatosis: A view from within the inner ear. NF2-related schwannomatosis (NF2-SWN, formerly known as neurofibromatosis type 2) is an autosomal dominant disorder associated with the growth of bilateral schwannomas on the cochleo-vestibular nerves and meningiomas. NF2-SWN is caused by pathogenic variations in the NF2, moesin-ezrin-radixin-like (MERLIN) tumour suppressor gene

Update on Cancer and Central Nervous System Tumor Surveillance in Pediatric NF2-, SMARCB1-, and LZTR1-Related Schwannomatosis. Schwannomatoses (SWN) are distinct cancer predisposition syndromes caused by germline pathogenic variants in the genes NF2, SMARCB1, or LZTR1. There is significant clinical overlap between these syndromes with the hallmark of increased risk for cranial, spinal

Improved sensitivity for detection of pathogenic variants in familial NF2-related schwannomatosis. To determine the impact of additional genetic screening techniques on the rate of detection of pathogenic variants leading to familial -related schwannomatosis. We conducted genetic screening of a cohort of 168 second-generation individuals meeting the clinical criteria for -related schwannomatosis sensitivity of detection of pathogenic variants from 87% to 95% in our second-generation -related schwannomatosis cohort. A number of pathogenic variants identified through extended analysis had been previously observed after NGS analysis but had been overlooked or classified as variants of uncertain significance. Our study indicates there is added value in performing additional genetic analysis

Genetic findings in people with schwannomas who do not meet clinical diagnostic criteria for NF2-related schwannomatosis. Most schwannomas are isolated tumours occurring in otherwise healthy people. However, bilateral vestibular schwannomas (BVS) or multiple non-vestibular schwannomas indicate an underlying genetic predisposition. This is most commonly -related schwannomatosis (SWN), but when

Phase I/II Study of a Vascular Endothelial Growth Factor Receptor Vaccine in Patients With NF2-Related Schwannomatosis. The humanized antivascular endothelial growth factor (VEGF) antibody bevacizumab (Bev) is efficacious for the treatment of NF2-related schwannomatosis (NF2), previously known as neurofibromatosis type 2. This study evaluated the safety and efficacy of a VEGF receptor (VEGFR

Multicenter, prospective, phase 2 study of maintenance bevacizumab for children and adults with NF2-related schwannomatosis and progressive vestibular schwannoma. Prospective data on maintenance therapy with bevacizumab for persons with NF2-related schwannomatosis (NF2-SWN) is lacking. In this prospective multicenter phase 2 study, we evaluated the efficacy, safety, and tolerability

Schwannomatosis of the sciatic nerve: a case report. Schwannomas are one of the most common peripheral nerve sheath neoplasms. These tumors, which are characteristically slow-growing and encapsulated, can occur in solitary or multiple forms. Although they usually occur sporadically, they can be seen with various genetic tumor predisposition syndromes such as neurofibromatosis type 2 (NF-2 ) or schwannomatosis. However, schwannomatosis is a relatively rare disease. We present a case of a 22-year-old patient with segmental schwannomatosis of the sciatic nerve and a comprehensive literature review.

Stereotactic Radiosurgery and Radiotherapy for Vestibular Schwannoma in NF2-Related Schwannomatosis. To determine the long-term control rates and hearing outcomes for growing vestibular schwannoma in NF2-related schwannomatosis (NF2) treated with stereotactic radiosurgery (SRS) and fractionated radiotherapy (FRT). Retrospective review of all patients treated with SRS/FRT between 1986 and2021

Comparing Speech Recognition Outcomes Between Cochlear Implants and Auditory Brainstem Implants in Patients With NF2-Related Schwannomatosis. To compare cochlear implant (CI) and auditory brainstem implant (ABI) performance in patients with NF2-related schwannomatosis (NF2). Historical cohort. Tertiary academic center. A total of 58 devices among 48 patients were studied, including 27 ABIs

COVID-19 in people with neurofibromatosis 1, neurofibromatosis 2, or schwannomatosis. People with pre-existing conditions may be more susceptible to severe COVID-19 when infected by SARS-CoV-2. The relative risk and severity of SARS-CoV-2 infection in people with rare diseases such as neurofibromatosis type 1 (NF1), neurofibromatosis type 2 (NF2), or schwannomatosis (SWN) is unknown. We

Updated protocol for genetic testing, screening, and clinical management of individuals at risk of NF2-related schwannomatosis. Genetic testing and management of individuals at risk for NF2-related schwannomatosis is complicated by the high rate of mosaicism resulting in a milder, later onset, more asymmetrical disease, and the phenotypic overlap with the related schwannomatosis conditions . This updated protocol has been devised for the English NF2-related schwannomatosis service. It provides those affected with mosaic NF2-related schwannomatosis, estimated risks of having an affected child; and management guidelines both for individuals at risk of NF2-related schwannomatosis, or with potential disease, due to having features that fall short of consensus diagnostic criteria. Risks of mosaicism

Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Neurofibromatosis type 2 (NF2) and schwannomatosis (SWN) are genetically distinct tumor predisposition syndromes with overlapping phenotypes. We sought to update the diagnostic criteria for NF2 and SWN by incorporating recent advances in genetics

Design of a randomized, placebo-controlled, phase 2 study evaluating the safety and efficacy of tanezumab for treatment of schwannomatosis-related pain. Schwannomatosis (SWN) is a rare tumor suppressor syndrome that predisposes affected individuals to develop multiple schwannomas and, less often, meningiomas. The most common symptom is chronic, severe pain. No medications are broadly effective

What to know about schwannomatosis: a literature review. Schwannomatosis is a relatively rare disorder and is related to neurofibromatosis type 2. Although there is clinical overlap between schwannomatosis and neurofibromatosis type 2, these diseases have to be regarded as separate entities due to the genetic origin and course of the disease. A comprehensive review of the literature was conducted for relevant studies using Pubmed and Cochrane databases to discuss the epidemiology, clinical presentation, diagnostic criteria, pathological and imaging features, treatment and genetics of schwannomatosis. Germline mutations SMARCB1 and LZTRI together with the gene play a role in the pathophysiology of schwannomatosis. The most common symptom is pain with affection of the spine and peripheral

ERN GENTURIS clinical practice guidelines for the diagnosis, treatment, management and surveillance of people with schwannomatosis. A Guideline Group (GG) was convened from multiple specialties and patients to develop the first comprehensive schwannomatosis guideline. The GG undertook thorough literature review and wrote recommendations for treatment and surveillance. A modified Delphi process was used to gain approval for recommendations which were further altered for maximal consensus. Schwannomatosis is a tumour predisposition syndrome leading to development of multiple benign nerve-sheath non-intra-cutaneous schwannomas that infrequently affect the vestibulocochlear nerves. Two definitive genes (SMARCB1/LZTR1) have been identified on chromosome 22q centromeric to NF2 that cause schwannoma

Epigenomic, genomic, and transcriptomic landscape of schwannomatosis. Schwannomatosis (SWNTS) is a genetic cancer predisposition syndrome that manifests as multiple and often painful neuronal tumors called schwannomas (SWNs). While germline mutations in SMARCB1 or LZTR1, plus somatic mutations in NF2 and loss of heterozygosity in chromosome 22q have been identified in a subset of patients, little

DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis. BACKGROUNDDICER1 is the only miRNA biogenesis component associated with an inherited tumor syndrome, featuring multinodular goiter (MNG) and rare pediatric-onset lesions. Other susceptibility genes for familial forms of MNG likely exist.METHODSWhole-exome sequencing of a kindred with early-onset MNG and schwannomatosis was followed by investigation of germline pathogenic variants that fully segregated with the disease. Genome-wide analyses were performed on 13 tissue samples from familial and nonfamilial DGCR8-E518K-positive tumors, including MNG, schwannomas, papillary thyroid cancers (PTCs), and Wilms tumors. miRNA profiles of 4 tissue types were compared, and sequencing of miRNA, pre-miRNA, and mRNA

Increasing access to specialty care for rare diseases: a case study using a foundation sponsored clinic network for patients with neurofibromatosis 1, neurofibromatosis 2, and schwannomatosis. Our primary aim was to assess the ability of a non-profit foundation-sponsored clinic network to facilitate access to specialized care for patients with neurofibromatoses (NF), a group of neurogenetic disorders including NF1, NF2, and schwannomatosis (SWN). Our secondary aim was to identify how our findings in NF could be applied more broadly to other rare diseases. We retrospectively reviewed aggregate data on patient volume reported by specialty NF clinics in a nonprofit network from 2008 to 2015. We classified clinics as high or low volume for disease type (NF1 and NF2/schwannomatosis) and pediatric