ReviewActa otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale2016
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.
Review in Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 papers, 1 of them a synthesis that pooled it.
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Who cites it
30 citing papers in PubMed, 1 synthesis or guideline pooled it, 81 citations in OpenAlex.
- Redefining germline predisposition in children with molecularly characterized ependymoma: a population-based 20-year cohort.Acta neuropathologica communications · 2022Pooled it
- Article
- Development and Initial Validation of the Quality of life Evaluation inmedRxiv : the preprint server for health sciences · 2026Article
- Lip Schwannoma-A Rare Presentation in a Pediatric Patient: Case Report and a Literature Review.Diagnostics (Basel, Switzerland) · 2025Article
- Clinical and Genetic Overview of Neurofibromatosis Type 2 (NF2).Journal of Korean Neurosurgical Society · 2025Article
- Death in a bathtub of an adolescent with neurofibromatosis type 2 exhibiting meningioangiomatosis with white matter involvement.Forensic science, medicine, and pathology · 2025Article
- Hybrid 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 reports · 2025Review
- Efficacy and Toxicity of Bevacizumab in Children with NF2-Related Schwannomatosis: A Systematic Review.Cancers · 2025Review
- Distinct Imaging Features of Peripheral Nerve Sheath Tumours inCase reports in neurological medicine · 2025Article
- Neurofibromatosis Type 2 Presenting as Symptomatic Gallbladder Hydrops: A Rare Case Report and Literature Review.Case reports in pediatrics · 2024Article
- Intraventricular schwannomas: A case report and a literature review.Rare tumors · 2024Article
- Neurosurgical Treatment and Outcome of Pediatric Skull Base Lesions: A Case Series and Review of the Literature.Children (Basel, Switzerland) · 2023Article
- Molecular Aspects and Therapeutic Implications of Herbal Compounds Targeting Different Types of Cancer.Molecules (Basel, Switzerland) · 2023Review
- Loss of social independence in patients with neurofibromatosis type 2: a follow-up study using a national registry in Japan.Environmental health and preventive medicine · 2023Article
- Review
- Cutaneous Expression of Familial Cancer Syndromes.Acta dermato-venereologica · 2021Review
- Neurocutaneous syndromes in art and antiquities.American journal of medical genetics. Part C, Seminars in medical genetics · 2021Review
- European genetic ancestry associated with risk of childhood ependymoma.Neuro-oncology · 2020Article
- Options and strategies for hearing restoration in pediatric neurofibromatosis type 2.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
- Presenting symptoms in children with neurofibromatosis type 2.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Article
Corrections and comments
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Authors and funding
17 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis type 2 [NF2; MIM # 101000] is an autosomal dominant disorder characterised by the occurrence of vestibular schwannomas (VSs), schwannomas of other cranial, spinal and cutaneous nerves, cranial and spinal meningiomas and/or other central nervous system (CNS) tumours (e.g., ependymomas, astrocytomas). Additional features include early onset cataracts, optic nerve sheath meningiomas, retinal hamartomas, dermal schwannomas (i.e., NF2-plaques), and (few) café-au-lait spots. Clinically, NF2 children fall into two main groups: (1) congenital NF2 - with bilateral VSs detected as early as the first days to months of life, which can be stable/asymptomatic for one-two decades and suddenly progress; and (2) severe pre-pubertal (Wishart type) NF2- with multiple (and rapidly progressive) CNS tumours other-than-VS, which usually present first, years before VSs [vs. the classical adult (Gardner type) NF2, with bilateral VSs presenting in young adulthood, sometimes as the only disease feature]. Some individuals can develop unilateral VS associated with ipsilateral meningiomas or multiple schwannomas localised to one part of the peripheral nervous system [i.e., mosaic NF2] or multiple non-VS, non-intradermal cranial, spinal and peripheral schwannomas (histologically proven) [schwannomatosis]. NF2 is caused by mutations in the NF2 gene at chromosome 22q12.1, which encodes for a protein called merlin or schwannomin, most similar to the exrin-readixin-moesin (ERM) proteins; mosaicNF2 is due to mosaic phenomena for the NF2 gene, whilst schwannomatosis is caused by coupled germ-line and mosaic mutations either in the SMARCB1 gene [SWNTS1; MIM # 162091] or the LZTR1 gene [SWNTS2; MIM # 615670] both falling within the 22q region and the NF2 gene. Data driven from in vitro and animal studies on the merlin pathway [e.g., post-translational and upstream/downstream regulation] allowed biologically targeted treatment strategies [e.g., Lapatinib, Erlotinib, Bevacizumab] aimed to multiple tumour shrinkage and/or regression and tumour arrest of progression with functional improvement.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.