ReviewDeutsches Arzteblatt international2020
The Neurofibromatoses.
Review in Deutsches Arzteblatt international, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 52 papers.
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
52 citing papers in PubMed, 66 citations in OpenAlex.
- Durable responses to long-term selumetinib in Chinese pediatric NF1 patients with inoperable plexiform neurofibromas.Frontiers in pharmacology · 2026Trial
- Adult-onset multifocal retroperitoneal plexiform neurofibromas: a case report.Journal of medical case reports · 2026Article
- Zoledronic acid in the treatment of severe scoliosis associated with neurofibromatosis type 1 (NF1): a case report.Annals of medicine and surgery (2012) · 2026Article
- Technical Considerations for Peripheral Nerve Sheath Tumor Excision With Intraoperative Neuromonitoring and Magnification.Plastic and reconstructive surgery. Global open · 2026Article
- Resolving variants of uncertain significance in neurofibromatosis: An integrated approach combining deep learning and minigene assays.Functional & integrative genomics · 2026Article
- Clinical characteristics and imaging analysis of Proteus syndrome: a case description.Quantitative imaging in medicine and surgery · 2026Article
- Divergence in intra-tumor variant frequencies in sporadic vestibular schwannomas as a potential indication for mosaic NF2-related schwannomatosis?Neurogenetics · 2026Article
- The Complexities of Periorbital Neurofibroma: Diagnostic Ambiguity and Therapeutic Dilemmas: A Case Report and Literature Review.Diagnostics (Basel, Switzerland) · 2026Article
- Oral findings and oral health-related quality of life in children with neurofibromatosis type 1: a case-control study.BMC oral health · 2026Article
- Case Report: Clinical case of a giant plexiform neurofibroma of the liver in a patient with deletion of exon 1 of the NF1 gene.Frontiers in oncology · 2026Article
- Unveiling the complexity of neurofibromatosis type 1: Innovations in genetic understanding and clinical management. A narrative review.Biomedical papers of the Medical Faculty of the University Palacky, Olomouc, Czechoslovakia · 2025Review
- A case of neurofibromatosis type 1 with neurofibromatosis type 1-related and neurofibromatosis type 1-unrelated tumors: a case report.Journal of medical case reports · 2025Article
- Adeno-associated viral vector targeted evolution for neurofibromatosis gene delivery.Trends in molecular medicine · 2025Review
- [A case report of giant neurofibromatosis of maxillofacial, neck and chest was treated by multidisciplinary cooperation].Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery · 2025Article
- Global, regional, and national burden of neuroblastoma and peripheral nervous system tumours in individuals aged over 60 from 1990 to 2021: a trend analysis of global burden of disease study.Journal of health, population, and nutrition · 2025Article
- Age-Adapted Diagnostic Evaluation and Treatment of Patients With Type 1 Neurofibromatosis in Germany.Deutsches Arzteblatt international · 2025Review
- Treatment of café-au-lait macules with picosecond and nanosecond 1064-nm nd: YAG laser: a retrospective study.Lasers in medical science · 2025Article
- Clinical severity grading of NF2-related schwannomatosis.Orphanet journal of rare diseases · 2025Article
- Quality of life assessment in schwannomatosis - A systematic review.Brain & spine · 2025Article
- Clinical Characteristics of Multiple Café-Au-Lait Macules and Their Potential Significance in the Early Screening of Genetic Diseases.Clinical, cosmetic and investigational dermatology · 2025Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurofibromatosis of types 1 and 2 (NF1, NF2) and schwannomatosis are the diseases that make up the neurofibromatosis spectrum. With respective incidences of 1 in 3000, 1 in 33 000, and 1 in 60 000 births, they form part of the group of rare tumor-suppressor syndromes. They give rise to a greater tumor burden for the nervous system than any other type of neoplastic disease. New approaches to symptomatic treatment are emerging.
methodsThis review is based on articles retrieved by a selective literature search on the pathogenesis, diagnosis, and treatment of the neurofibromatoses.
resultsNF1 and NF2 are monogenic diseases, while the genetics of schwannomatosis is complex. The three entities are clinically and pathophysiologically distinct. An important aspect of their tumor biology is the alternation of growth phases and growth pauses. Correlations between genotypes and phenotypes are variable, while new mutations and genetic mosaics are common. Ninety-nine percent of patients with NF1 have six or more café-au-lait spots by the age of 12 months; 90-95% of patients with NF2 develop bilateral vestibular schwannomas. In schwannomatosis, pain is the most prominent symptom; two-thirds of those affected develop spinal schwannomas. The severity and prognosis of these disorders are not closely correlated with the radiological findings; rather, neurologic deficits, malignant transformation, and psychosocial stress are of greater clinical importance. Advances in knowledge of pathophysiology have led to the development of targeted treatment approaches. Examples include the off-label treatment of vestibular schwannomas with bevacizumab and of plexiform neurofibromas with MEK inhibitors.
conclusionPatients with neurofibromatoses need individualized care. They should be treated in centers of expertise where interdisciplinary consultation is available and new types of pharmacotherapy can be provided.
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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.