Trial reportHuman genetics2018
Phenotypic and genotypic overlap between mosaic NF2 and schwannomatosis in patients with multiple non-intradermal schwannomas.
Trial report in Human genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 papers, 2 of them syntheses that pooled it.
What it found
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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
23 citing papers in PubMed, 2 syntheses or guidelines pooled it, 45 citations in OpenAlex.
- Stereotactic radiosurgery for vestibular schwannomas in neurofibromatosis type 2: a systematic review and meta-analysis.BMC cancer · 2025Pooled it
- Stereotactic radiosurgery for vestibular schwannomas in neurofibromatosis type 2 patients: a systematic review and meta-analysis.Journal of neuro-oncology · 2022Pooled it
- High frequency of mosaic NF2-related schwannomatosis diagnosed after somatic analysis of multi-nodular schwannomas in schwannomatosis patients.Human genetics · 2026Article
- Molecular pathogenesis of the schwannomatosis genes and genetic testing strategies.Familial cancer · 2025Review
- Comprehensive Genetic Analysis ofLaryngoscope investigative otolaryngology · 2025Article
- Hybrid granular cell tumor/perineurioma: a report of two rare cases with PIK3CA mutations.Virchows Archiv : an international journal of pathology · 2025Article
- SMARCB1-related schwannomatosis and other SMARCB1-associated phenotypes: clinical spectrum and molecular pathogenesis.Familial cancer · 2025Review
- Update 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 Research · 2025Article
- Rare multiple schwannomas of the left upper extremity: A case report.Oncology letters · 2025Article
- Role ofCancers · 2024Review
- Historical Development of Diagnostic Criteria for NF2-related Schwannomatosis.Neurologia medico-chirurgica · 2024Article
- Phenotypic Expansion of Autosomal DominantGenes · 2024Review
- A novel leucine zipper-like transcriptional regulator 1 variant identified in a pair of siblings with familial schwannomatosis.Surgical neurology international · 2024Article
- Management of Central and Peripheral Nervous System Tumors in Patients with Neurofibromatosis.Current oncology reports · 2023Review
- Mendelian inheritance revisited: dominance and recessiveness in medical genetics.Nature reviews. Genetics · 2023Review
- Primary Cardiac Schwannoma: A Meta-Analysis of Individual Case Reports.Journal of clinical medicine · 2023Review
- Screening of potential novel candidate genes in schwannomatosis patients.Human mutation · 2022Article
- Understanding barriers to diagnosis in a rare, genetic disease: Delays and errors in diagnosing schwannomatosis.American journal of medical genetics. Part A · 2022Review
- Comparison of the frequency of loss-of-function LZTR1 variants between schwannomatosis patients and the general population.Human mutation · 2022Article
- Current status and recommendations for imaging in neurofibromatosis type 1, neurofibromatosis type 2, and schwannomatosis.Skeletal radiology · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Schwannomatosis and neurofibromatosis type 2 (NF2) are both characterized by the development of multiple schwannomas but represent different genetic entities. Whereas NF2 is caused by mutations of the NF2 gene, schwannomatosis is associated with germline mutations of SMARCB1 or LZTR1. Here, we studied 15 sporadic patients with multiple non-intradermal schwannomas, but lacking vestibular schwannomas and ophthalmological abnormalities, who fulfilled the clinical diagnostic criteria for schwannomatosis. None of them harboured germline NF2 or SMARCB1 mutations as determined by the analysis of blood samples but seven had germline LZTR1 variants predicted to be pathogenic. At least two independent schwannomas from each patient were subjected to NF2 mutation testing. In five of the 15 patients, identical somatic NF2 mutations were identified (33%). If only those patients without germline LZTR1 variants are considered (n = 8), three of them (37.5%) had mosaic NF2 as concluded from identical NF2 mutations identified in independent schwannomas from the same patient. These findings imply that a sizeable proportion of patients who fulfil the diagnostic criteria for schwannomatosis, are actually examples of mosaic NF2. Hence, the molecular characterization of tumours in patients with a clinical diagnosis of schwannomatosis is very important. Remarkably, two of the patients with germline LZTR1 variants also had identical NF2 mutations in independent schwannomas from each patient which renders differential diagnosis of LZTR1-associated schwannomatosis versus mosaic NF2 in these patients very difficult.
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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.