ReviewInternational journal of molecular sciences2021
Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis.
Review in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 135 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
135 citing papers in PubMed, 1 synthesis or guideline pooled it, 222 citations in OpenAlex.
- [Clarification the terms and definitions related to neurofibromatosis type 1].Zhongguo xiu fu chong jian wai ke za zhi = Zhongguo xiufu chongjian waike zazhi = Chinese journal of reparative and reconstructive surgery · 2024Pooled it
- Advancing neurofibromatosis research: a comparative review of animal models and their utility in dissecting the tumor microenvironment.Laboratory animal research · 2026Review
- Prevalence of Genodermatoses in Finland from 1995 to 2022: A Nationwide Registry Study.Acta dermato-venereologica · 2026Article
- Trends in neuroprosthetic technologies to restore sensations.Biomedical engineering letters · 2026Review
- Neurofibromatosis Type 1 Tumor Involving the Anterosuperior Mediastinum With a Rare c.147C>G Germline Mutation: A Case Report.Clinical case reports · 2026Article
- The social construction of the "good doctor": Expectations of physicians among adults with NF1.Journal of community genetics · 2026Article
- Characterizing neurofibromin 1-altered breast cancer through genomic, functional, and clinical analyses.Virchows Archiv : an international journal of pathology · 2026Article
- Clinical Diagnosis and Treatment in Patients with Schwannoma at a Single Institute.Diagnostics (Basel, Switzerland) · 2026Article
- First Acute Case of Ossifying Subperiosteal Hematoma After Plexiform Neurofibroma Resection in NF-1: Case Report and Systematic Review.Indian journal of orthopaedics · 2026Review
- Zoledronic acid in the treatment of severe scoliosis associated with neurofibromatosis type 1 (NF1): a case report.Annals of medicine and surgery (2012) · 2026Article
- Oncocytic Adrenocortical Carcinoma with Somatic Pathogenic Variants ofDiagnostics (Basel, Switzerland) · 2026Article
- Resolving variants of uncertain significance in neurofibromatosis: An integrated approach combining deep learning and minigene assays.Functional & integrative genomics · 2026Article
- Neuroblastoma-like schwannoma: Case report with histopathologic correlationBiomedica : revista del Instituto Nacional de Salud · 2026Review
- Article
- Stereotactic radiosurgery for NF2-related schwannomatosis and schwannomatosis-associated spinal tumors: a single-institution cohort.Journal of spine surgery (Hong Kong) · 2026Article
- Atypical Teratoid/Rhabdoid Tumor of the Lateral Ventricle: A Case Series and Experience with Molecular Subtyping-Guided Immunotherapy.Neurology international · 2026Article
- Hepatic plexiform neurofibroma a rare manifestation of neurofibromatosis type 1: A case report and literature review.Radiology case reports · 2026Article
- Malignant peripheral nerve sheath tumors arising in SMARCB1-associated schwannomatosis: illustrative cases.Journal of neurosurgery. Case lessons · 2026Article
- The Complexities of Periorbital Neurofibroma: Diagnostic Ambiguity and Therapeutic Dilemmas: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2026Article
- Translation and Cultural Adaptation of the PedsQL Neurofibromatosis Module, Version 3.0, Into Brazilian Portuguese.Cureus · 2026Article
75 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Neurofibromatosis (NF) is a neurocutaneous syndrome characterized by the development of tumors of the central or peripheral nervous system including the brain, spinal cord, organs, skin, and bones. There are three types of NF: NF1 accounting for 96% of all cases, NF2 in 3%, and schwannomatosis (SWN) in <1%. The NF1 gene is located on chromosome 17q11.2, which encodes for a tumor suppressor protein, neurofibromin, that functions as a negative regulator of Ras/MAPK and PI3K/mTOR signaling pathways. The NF2 gene is identified on chromosome 22q12, which encodes for merlin, a tumor suppressor protein related to ezrin-radixin-moesin that modulates the activity of PI3K/AKT, Raf/MEK/ERK, and mTOR signaling pathways. In contrast, molecular insights on the different forms of SWN remain unclear. Inactivating mutations in the tumor suppressor genes SMARCB1 and LZTR1 are considered responsible for a majority of cases. Recently, treatment strategies to target specific genetic or molecular events involved in their tumorigenesis are developed. This study discusses molecular pathways and related targeted therapies for NF1, NF2, and SWN and reviews recent clinical trials which involve NF patients.
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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.