Definition and research guide
This page combines a MeSH definition, publication statistics and selected research abstracts. It is a starting point for reading the literature, not a medical textbook or a systematic evidence review.
Content available: 4 complete abstracts (765 words), 10 references. Full article text is not stored or reproduced here; follow the PMID, DOI or PMC links to read the original sources and their access terms.
Definition
A moderately firm, benign, encapsulated tumor resulting from proliferation of schwann cells and fibroblasts that includes portions of nerve fibers. The tumors usually develop along peripheral or cranial nerves and are a central feature of neurofibromatosis 1, where they may occur intracranially or involve spinal roots. Pathologic features include fusiform enlargement of the involved nerve. Microscopic examination reveals a disorganized and loose cellular pattern with elongated nuclei intermixed with fibrous strands. (From Adams et al., Principles of Neurology, 6th ed, p1016)
Definition: NLM Medical Subject Headings (MeSH) scope note (Public domain (U.S. National Library of Medicine); attribution requested). View the MeSH record.
Also known as: Neurofibromas.
Where it fits in the MeSH classification
- Broader topics
- Nerve Sheath Neoplasms
- Narrower topics
- Neurofibroma, Plexiform; Neurofibromatoses; Neurofibrosarcoma
Related concepts
- Schwann Cells
- Fibroblasts
- Neurofibromatosis
Research landscape
PubMed indexes 18,486 records tagged with the MeSH heading “Neurofibroma” (counts retrieved 2026-10-29). 2,741 of them (14.8%) were published from 2020 onward, and the busiest period so far is through 1999 with 8,393 records.
Reviews account for 2,323 records (12.6%) and meta-analyses for 49. Randomized controlled trials number 48 (0.3%) as a share of all records on the topic. Randomized trials make up only a small share of this literature, so much of what is known comes from laboratory, observational or descriptive work.
Show the data
| Period | Records |
|---|---|
| through 1999 | 8,393 |
| 2000-2009 | 3,336 |
| 2010-2019 | 4,016 |
| 2020 onward | 2,741 |
Publication-type chart data
| Type | Records | Share |
|---|---|---|
| Reviews | 2,323 | 12.6% |
| Meta-analyses | 49 | 0.3% |
| Randomized controlled trials | 48 | 0.3% |
Method: PubMed query "Neurofibroma"[MeSH Terms] with publication-type and date filters, retrieved 2026-10-29.
Reading the evidence in cancer and oncology
Cancer research spans very different kinds of evidence. Laboratory studies in cell lines and animal models reveal mechanisms but often do not translate to patients. Early-phase trials mainly test safety and dosing, while phase 3 randomized trials and their meta-analyses are the usual basis for treatment conclusions. Outcomes also differ in meaning: tumour shrinkage, progression-free survival and overall survival are not interchangeable, and screening studies can be distorted by lead-time and overdiagnosis. When reading a result, check the cancer type and stage studied, the comparison treatment, and which outcome was measured.
Evidence from open-access studies
These open-access studies come from PubMed’s best-match results for this heading (papers whose main topic it is), ranked here by citation count, with one recent addition. Each abstract is reproduced in full under its recorded open licence so that you can read the authors’ own words. They illustrate the literature; they are not a systematic summary of it. Citation counts measure attention, not reliability or clinical benefit.
Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1 [1]
Abstract reading summary — source excerpts
- Opening excerpt
- Consensus recommendations published in 2017 histologically defining atypical neurofibromatous neoplasm of uncertain biologic potential (ANNUBP) and malignant peripheral nerve sheath tumor (MPNST) were codified in the 2021 WHO Classification of Tumors of the Central Nervous System and the 2022 WHO Classification of Tumors of Soft Tissue and Bone.
- Closing excerpt
- This refined integrated diagnostic approach for NF1-associated peripheral nerve sheath tumors should continue to evolve in concert with our understanding of these neoplasms.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (230 words)
Consensus recommendations published in 2017 histologically defining atypical neurofibromatous neoplasm of uncertain biologic potential (ANNUBP) and malignant peripheral nerve sheath tumor (MPNST) were codified in the 2021 WHO Classification of Tumors of the Central Nervous System and the 2022 WHO Classification of Tumors of Soft Tissue and Bone. However, given the shift in diagnostic pathology toward the use of integrated histopathologic and genomic approaches, the incorporation of additional molecular strata in the classification of Neurofibromatosis Type 1 (NF1)-associated peripheral nerve sheath tumors should be formalized to aid in accurate diagnosis and early identification of malignant transformation and enable appropriate intervention for affected patients. To this end, we assembled a multi-institutional expert pathology working group as part of a "Symposium on Atypical Neurofibroma: State of the Science." Herein, we provide a suggested framework for adequate interventional radiology and surgical sampling and recommend molecular profiling for clinically or radiologically worrisome noncutaneous lesions in patients with NF1 to identify diagnostically-relevant molecular features, including CDKN2A/B inactivation for ANNUBP, as well as SUZ12, EED, or TP53 inactivating mutations, or significant aneuploidy for MPNST. We also propose renaming "low-grade MPNST" to "ANNUBP with increased proliferation" to avoid the use of the "malignant" term in this group of tumors with persistent unknown biologic potential. This refined integrated diagnostic approach for NF1-associated peripheral nerve sheath tumors should continue to evolve in concert with our understanding of these neoplasms.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 39500722 · DOI · PMC11889724
Functional interactions between neurofibromatosis tumor suppressors underlie Schwann cell tumor de-differentiation and treatment resistance [2]
Abstract reading summary — source excerpts
- Opening excerpt
- Schwann cell tumors are the most common cancers of the peripheral nervous system and can arise in patients with neurofibromatosis type-1 (NF-1) or neurofibromatosis type-2 (NF-2).
- Closing excerpt
- These data support a de-differentiation paradigm underlying malignant transformation and treatment resistance of Schwann cell tumors and elucidate a functional link between NF1 and NF2.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (151 words)
Schwann cell tumors are the most common cancers of the peripheral nervous system and can arise in patients with neurofibromatosis type-1 (NF-1) or neurofibromatosis type-2 (NF-2). Functional interactions between NF1 and NF2 and broader mechanisms underlying malignant transformation of the Schwann lineage are unclear. Here we integrate bulk and single-cell genomics, biochemistry, and pharmacology across human samples, cell lines, and mouse allografts to identify cellular de-differentiation mechanisms driving malignant transformation and treatment resistance. We find DNA methylation groups of Schwann cell tumors can be distinguished by differentiation programs that correlate with response to the MEK inhibitor selumetinib. Functional genomic screening in NF1-mutant tumor cells reveals NF2 loss and PAK activation underlie selumetinib resistance, and we find that concurrent MEK and PAK inhibition is effective in vivo. These data support a de-differentiation paradigm underlying malignant transformation and treatment resistance of Schwann cell tumors and elucidate a functional link between NF1 and NF2.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 38216572 · DOI · PMC10786885
Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1 [3]
Abstract reading summary — source excerpts
- Opening excerpt
- This phase 2a trial investigated the efficacy of NFX-179 Topical Gel, a metabolically labile MEK inhibitor, in the treatment of cutaneous neurofibromas (cNFs) in neurofibromatosis type 1.
- Closing excerpt
- Thus, NFX-179 Topical Gel demonstrated significant inhibition of MEK in cNF with excellent safety and potential therapeutic benefit.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (159 words)
This phase 2a trial investigated the efficacy of NFX-179 Topical Gel, a metabolically labile MEK inhibitor, in the treatment of cutaneous neurofibromas (cNFs) in neurofibromatosis type 1. Forty-eight participants were randomized to four treatment arms: NFX-179 Topical Gel 0.05%, 0.15%, and 0.5% or vehicle applied once daily to five target cNFs for 28 days. Treatment with NFX-179 Topical Gel resulted in a dose-dependent reduction in p-ERK levels in cNFs at day 28, with a 47% decrease in the 0.5% NFX-179 group compared to the vehicle (P = 0.0001). No local or systemic toxicities were observed during the treatment period, and systemic concentrations of NFX-179 remained below 1 ng/ml. In addition, 20% of cNFs treated with 0.5% NFX-179 Topical Gel showed a ≥50% reduction in volume compared to 6% in the vehicle group by ruler measurement with calculated volume (P = 0.021). Thus, NFX-179 Topical Gel demonstrated significant inhibition of MEK in cNF with excellent safety and potential therapeutic benefit.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 38691597 · DOI · PMC11062565
TRAM-01: A phase 2 study of trametinib for pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas [4]
Abstract reading summary — source excerpts
- Opening excerpt
- BackgroundPlexiform neurofibromas (PNs) are observed in up to 50% of patients with neurofibromatosis type 1 (NF1).
- Closing excerpt
- Based on these results, trametinib is effective and overall well tolerated.
- Interpretation limits
- Verbatim excerpts from the authors’ abstract; the closing excerpt may describe a finding, limitation or recommendation. Design, population, effect size and uncertainty have not been independently extracted or appraised. Read the complete abstract and linked paper before interpreting the findings.
Read complete abstract (225 words)
BackgroundPlexiform neurofibromas (PNs) are observed in up to 50% of patients with neurofibromatosis type 1 (NF1). Trametinib has been used widely to treat PNs but limited data has been reported on its efficacy within a clinical trial. We conducted a phase 2 trial with trametinib for patients with NF1 and inoperable PNs.MethodsPatients with NF1 and inoperable PNs aged ≥1 month to ≤25 years when starting trametinib were eligible. Patients received trametinib once daily orally continuously for a maximum of 18 cycles of 28 days. Patients completed patient-reported outcome measures. Response evaluations were performed after cycle 3, 6, 12 and at the end of treatment and then every 6 months. The PN volumes were centrally quantified using a semi-automatic 3D segmentation method.ResultsForty-six patients were recruited. The median age was 11.1 years (range 0.7-19.8). The median baseline tumor volume was 104.6 ml (range 16.3 to 650.1 ml). Volumetric assessment demonstrated an overall response rate (volume decrease of ≥20%) in 47.8% (22/46) of patients. Median volume change was -19.3% (range -80.5 to 3.5). Forty-one patients (89.1%) completed the planned treatment. The 3 years progression free survival and the event free survival were respectively 73.1% (95% CI 53.3%-85.5%) and 47.1% (95% CI 28.8-63.5).ConclusionsWe report outcomes and volumetric response of PNs treated with trametinib within a phase 2 trial. Based on these results, trametinib is effective and overall well tolerated.
Abstract reproduced from the open-access article under the recorded cc by licence; © the authors. PMID 42155032 · DOI · PMC13550690
Key reviews and meta-analyses
The most cited review-type papers among PubMed’s best-match results for this heading, listed with bibliographic details only. Follow the links for the full text and access terms.
- Research article Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation [5]
- Research article Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation [6]
- Research article Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis [7]
- Research article Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG) [8]
- Research article The Diagnosis and Management of Neurofibromatosis Type 1 [9]
- Research article Health Supervision for Children With Neurofibromatosis Type 1 [10]
References
- Lucas CG, Gross AM, Romo CG, Dehner CA, Lazar AJ, Miettinen M, et al.. Consensus recommendations for an integrated diagnostic approach to peripheral nerve sheath tumors arising in the setting of Neurofibromatosis Type 1. . 2025. PMID 39500722 · DOI · PMC11889724
- Vasudevan HN, Payne E, Delley CL, John Liu S, Mirchia K, Sale MJ, et al.. Functional interactions between neurofibromatosis tumor suppressors underlie Schwann cell tumor de-differentiation and treatment resistance. . 2024. PMID 38216572 · DOI · PMC10786885
- Sarin KY, Bradshaw M, O'Mara C, Shahryari J, Shahryari J, Kincaid J, et al.. Effect of NFX-179 MEK inhibitor on cutaneous neurofibromas in persons with neurofibromatosis type 1. . 2024. PMID 38691597 · DOI · PMC11062565
- Sadat Kiaei D, Caru M, Larouche V, Clini E, Pugalenthi Saravanan D, Lippé S, et al.. TRAM-01: A phase 2 study of trametinib for pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas. . 2026. PMID 42155032 · DOI · PMC13550690
- Legius E, Messiaen L, Wolkenstein P, Pancza P, Avery RA, Berman Y, et al.. Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation. Genet Med. 2021. PMID 34012067 · DOI · PMC8354850
- Plotkin SR, Messiaen L, Legius E, Pancza P, Avery RA, Blakeley JO, et al.. Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation. Genet Med. 2022. PMID 35674741 · DOI
- Tamura R. Current Understanding of Neurofibromatosis Type 1, 2, and Schwannomatosis. Int J Mol Sci. 2021. PMID 34072574 · DOI · PMC8198724
- Stewart DR, Korf BR, Nathanson KL, Stevenson DA, Yohay K. Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG). Genet Med. 2018. PMID 30006586 · DOI
- Ly KI, Blakeley JO. The Diagnosis and Management of Neurofibromatosis Type 1. Med Clin North Am. 2019. PMID 31582003 · DOI
- Miller DT, Freedenberg D, Schorry E, Ullrich NJ, Viskochil D, Korf BR, et al.. Health Supervision for Children With Neurofibromatosis Type 1. Pediatrics. 2019. PMID 31010905 · DOI
About this article
- Sources
- NLM Medical Subject Headings (definition, synonyms); NCBI PubMed (counts, identifiers); Europe PMC (open-access abstracts and citation counts).
- Verification
- Every reference was resolved against PubMed on 2026-10-31; title, year and DOI matched.
- Review state
- automated source verified; no human expert review has been recorded yet.
- Version
- 1, last updated 2026-10-29.
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Evidence strength
EvidenceHelix's computed view of the study designs behind this topic: how common meta-analyses, randomized trials and reviews are, how recent the literature is, and a plain-language reading. It describes the design mix of the literature. It is not a quality appraisal of any study, and it is not medical advice.