ReviewNeurogenetics2016
A heritable form of SMARCE1-related meningiomas with important implications for follow-up and family screening.
Review in Neurogenetics, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 22 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
22 citing papers in PubMed, 1 synthesis or guideline pooled it, 62 citations in OpenAlex.
- Germline variants in SMARCB1 and other members of the BAF chromatin-remodeling complex across human disease entities: a meta-analysis.European journal of human genetics : EJHG · 2018Pooled it
- Missense genetic variant in IQCA1 gene in patients with meningioma.Acta neurologica Belgica · 2025Article
- A huge cerebral parenchymal meningioma in sylvian fissure: case report and literature review.BMC neurology · 2025Review
- cIMPACT-NOW update 8: Clarifications on molecular risk parameters and recommendations for WHO grading of meningiomas.Neuro-oncology · 2025Review
- Pediatric case of a particularly large clear cell meningioma - a case report.Acta neurologica Belgica · 2024Article
- Meningioma: International Consortium on Meningiomas consensus review on scientific advances and treatment paradigms for clinicians, researchers, and patients.Neuro-oncology · 2024Review
- Update on Cancer Predisposition Syndromes and Surveillance Guidelines for Childhood Brain Tumors.Clinical cancer research : an official journal of the American Association for Cancer Research · 2024Review
- Pituitary Adenoma Coexistent with Sellar Clear Cell Meningioma Unattached to the Dura: Case Report and Treatment Considerations.Journal of neurological surgery reports · 2024Article
- Mother and daughter with a SMARCE1 mutation resulting in a cervical clear cell meningioma at an identical location: illustrative cases.Journal of neurosurgery. Case lessons · 2023Article
- The multiomic landscape of meningiomas: a review and update.Journal of neuro-oncology · 2023Review
- Genomic Landscape of Meningiomas.Advances in experimental medicine and biology · 2023Article
- Examination of Genetic Susceptibility in Radiation-Associated Meningioma.Radiation research · 2022Article
- SMARCE1 deficiency generates a targetable mSWI/SNF dependency in clear cell meningioma.Nature genetics · 2022Article
- Clear cell histology portends a worse prognosis than other WHO grade II histologies.Journal of neuro-oncology · 2021Article
- Familial Pediatric Clear Cell Meningioma With Germline SMARCE1 Mutation in the United States.Journal of neuropathology and experimental neurology · 2020Article
- Response to Maya et al.Genetics in medicine : official journal of the American College of Medical Genetics · 2020Article
- Clear Cell Meningioma in the Central Nervous System: Analysis of Surveillance, Epidemiology, and End Results Database.Frontiers in oncology · 2020Article
- Germline genetic landscape of pediatric central nervous system tumors.Neuro-oncology · 2019Review
- Recent Advances in Meningioma Immunogenetics.Frontiers in oncology · 2019Review
- Familial Syndromes Involving Meningiomas Provide Mechanistic Insight Into Sporadic Disease.Neurosurgery · 2018Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 4 institutions in 2 countries.
Funding
Abstract
Childhood meningiomas are rare. Recently, a new hereditary tumor predisposition syndrome has been discovered, resulting in an increased risk for spinal and intracranial clear cell meningiomas (CCMs) in young patients. Heterozygous loss-of-function germline mutations in the SMARCE1 gene are causative, giving rise to an autosomal dominant inheritance pattern. We report on an extended family with a pediatric CCM patient and an adult CCM patient and several asymptomatic relatives carrying a germline SMARCE1 mutation, and discuss difficulties in genetic counseling for this heritable condition. Because of the few reported cases so far, the lifetime risk of developing meningiomas for SMARCE1 mutation carriers is unclear and the complete tumor spectrum is unknown. There is no surveillance guideline for asymptomatic carriers nor a long-term follow-up recommendation for SMARCE1-related CCM patients as yet. Until more information is available about the penetrance and tumor spectrum of the condition, we propose the following screening advice for asymptomatic SMARCE1 mutation carriers: neurological examination and MRI of the brain and spine, yearly from diagnosis until the age of 18 and once every 3 years thereafter, or in between if there are clinical symptoms. This advice can also be used for long-term patient follow-up. More data is needed to optimize this proposed screening advice.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
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.