ArticleBMC medicine2013
Serum biomarkers for neurofibromatosis type 1 and early detection of malignant peripheral nerve-sheath tumors.
Article in BMC medicine, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 25 papers, 2 of them syntheses that pooled it.
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Who cites it
25 citing papers in PubMed, 2 syntheses or guidelines pooled it, 60 citations in OpenAlex.
- A Bayesian approach for diagnostic accuracy of malignant peripheral nerve sheath tumors: a systematic review and meta-analysis.Neuro-oncology · 2021Pooled it
- Current status and recommendations for biomarkers and biobanking in neurofibromatosis.Neurology · 2016Guideline
- Loss of neurofibromin induces inflammatory macrophage phenotypic switch and retinal neovascularization via GLUT1 activation.Cell reports · 2025Article
- High-content microscopy and machine learning characterize a cell morphology signature ofbioRxiv : the preprint server for biology · 2025Article
- A comprehensive overview of liquid biopsy applications in pediatric solid tumors.NPJ precision oncology · 2024Review
- Early-life immune activation is a vulnerability factor for adult epileptogenesis in neurofibromatosis type 1 in male mice.Frontiers in neurology · 2024Article
- Article
- The Role of Socioeconomic Status and Race/Ethnicity in Malignant Peripheral Nerve Sheath Tumor Survival: A Surveillance, Epidemiology, and End Results-Based Analysis.Cancer epidemiology, biomarkers & prevention : a publication of the American Association for Cancer Research, cosponsored by the American Society of Preventive Oncology · 2022Article
- MEK inhibition exerts temporal and myeloid cell-specific effects in the pathogenesis of neurofibromatosis type 1 arteriopathy.Scientific reports · 2021Article
- Circulating tumor DNA for malignant peripheral nerve sheath tumors in neurofibromatosis type 1.Journal of neuro-oncology · 2021Review
- Are preoperative complete blood count parameters in peripheral nerve sheath tumors useful diagnostic tools?Joint diseases and related surgery · 2021Article
- Treatment of malignant peripheral nerve sheath tumors in pediatric NF1 disease.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2020Review
- Upregulated immuno-modulator PD-L1 in malignant peripheral nerve sheath tumors provides a potential biomarker and a therapeutic target.Cancer immunology, immunotherapy : CII · 2020Article
- Translating current basic research into future therapies for neurofibromatosis type 1.British journal of cancer · 2020Review
- Implications of new understandings of gliomas in children and adults with NF1: report of a consensus conference.Neuro-oncology · 2020Article
- Characteristic Cytokine Profiles of Aqueous Humor in Glaucoma Secondary to Sturge-Weber Syndrome.Frontiers in immunology · 2020Article
- Giant Pelvic Neurofibroma in Patient with Plexiform Sciatic Neurofibroma and Neurofibromatosis Type 1.Open access Macedonian journal of medical sciences · 2019Article
- Peripheral nerve disease secondary to systemic conditions in children.Therapeutic advances in neurological disorders · 2019Review
- Programmed death ligand 1 expression and tumor infiltrating lymphocytes in neurofibromatosis type 1 and 2 associated tumors.Journal of neuro-oncology · 2018Article
- An inflammatory gene signature distinguishes neurofibroma Schwann cells and macrophages from cells in the normal peripheral nervous system.Scientific reports · 2017Article
Corrections and comments
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Authors and funding
6 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurofibromatosis type 1 (NF1) is a hereditary tumor syndrome characterized by the development of benign nerve-sheath tumors, which transform to malignant peripheral nerve-sheath tumors (MPNST) in about 8 to 13% of patients with NF1. MPNST are invasive sarcomas with extremely poor prognosis, and their development may correlate with internal tumor load of patients with NF1. Because early identification of patients with NF1 at risk for developing MPNST should improve their clinical outcome, the aim of this study was to identify serum biomarkers for tumor progression in NF1, and to analyze their correlation with tumor type and internal tumor load.
methodsWe selected candidate biomarkers for NF1 by manually mining published data sources, and conducted a systematic screen of 56 candidate serum biomarkers using customized antibody arrays. Serum from 104 patients with NF1 with and without MPNST, and from 41 healthy control subjects, was analyzed. Statistical analysis was performed using the non-parametric Mann-Whitney U-test, followed by Bonferroni correction.
resultsOur analysis identified four markers (epidermal growth factor receptor, interferon-γ, interleukin-6, and tumor necrosis factor-α) for which significantly different serum concentrations were seen in patients with NF1 compared with healthy controls. Two markers (insulin-like growth factor binding protein 1 (IGFBP1) and regulated upon activation, normal T-cell expressed and secreted (RANTES)) showed significantly higher concentrations in patients with NF1 and MPNST compared with patients with NF1 without MPNST. A correlation with internal tumor load was found for IGFBP1.
conclusionOur study identified two serum markers with potential for early detection of patients with NF1 at risk for developing MPNST, and four markers that could distinguish between patients with NF1 and healthy subjects. Such markers may be useful as diagnostic tools to support the diagnosis of NF1 and for timely identification of MPNST. Moreover, the data suggest that there is a systemic increase in inflammatory cytokines independently of tumor load in patients with NF1.
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