ArticleBrain and behavior2022
Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1.
Article in Brain and behavior, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.
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Who cites it
17 citing papers in PubMed, 17 citations in OpenAlex.
- ReNeu: A Pivotal, Phase IIb Trial of Mirdametinib in Adults and Children With Symptomatic Neurofibromatosis Type 1-Associated Plexiform Neurofibroma.Journal of clinical oncology : official journal of the American Society of Clinical Oncology · 2025Trial
- Pediatric mortality from neurofibromatosis and malignant peripheral nerve sheath tumors in Brazil, 2008-2023: a 16-year nationwide analysis of persistent disparities.Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery · 2026Article
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.Orphanet journal of rare diseases · 2026Review
- From diagnosis to daily life: A comparative pilot study on healthcare access and challenges for neurofibromatosis type 1 in public systems of Brazil and Portugal.Clinics (Sao Paulo, Brazil) · 2026Article
- HMGB1 affects the progression of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors through E2F2.Cancer cell international · 2026Article
- Profile and Outcomes of Neurofibromatosis Type 1 (NF1) Patients in a Tertiary Government Hospital in the Philippines: A Retrospective Descriptive Study.Acta medica Philippina · 2026Article
- Whole-genome sequencing in Brazilian patients with neurofibromatosis type 1, including novel variants, incidental findings, and dual diagnoses.Einstein (Sao Paulo, Brazil) · 2026Article
- Consensus on Malignant and Benign Tumors in Pediatric Patients with Neurofibromatosis Type 1: On Behalf of the Brazilian Society of Pediatric Oncology (SOBOPE).Current oncology (Toronto, Ont.) · 2025Article
- Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma.Pharmaceuticals (Basel, Switzerland) · 2025Article
- Review
- Real-world Settings for the Surgical Treatment of Neurofibroma in Patients with Neurofibromatosis Type 1.JMA journal · 2024Article
- Review
- A life-threatening, massive subcutaneous hematoma caused by trauma in a patient with neurofibromatosis type 1: a case report and literature review.Frontiers in oncology · 2024Article
- Multidisciplinary team for patients with neurocutaneous syndromes: The little discussed importance of dentistry.Clinics (Sao Paulo, Brazil) · 2024Review
- Mandibular symmetry on posterior-anterior cephalograms of neurofibromatosis type 1 patients with facial plexiform neurofibroma.GMS Interdisciplinary plastic and reconstructive surgery DGPW · 2023Article
- Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1.Brain and behavior · 2022Article
- Co-occurrence of mutations inFrontiers in endocrinology · 2022Article
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Authors and funding
12 authors at 5 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundNeurofibromatosis type 1 (NF1) is a chronic and progressive autosomal dominant genetic and sporadic disease characterized by cutaneous and neurological abnormalities. Plexiform neurofibroma (PN), a significant cause of clinical complications in NF-1, is a benign tumor of the peripheral nerve sheath that involves multiple nerve fascicles. Although there is an important number of patients who are affected by NF1 in Brazil, there is little data on the behavior of the disease in the national literature as well as in other low- and middle-income countries.
methodsWe performed a retrospective analysis of 491 patients with NF1 followed at two reference centers in Brazil.
resultsApproximately 38% of patients had PNs, resulting in reduced life quality. The median patient age with PNs was 30 years (range: 6 to 83 years). Head and neck, and extremity were the main affected locations with 35.8 and 30.6%, respectively. PNs were classified as asymptomatic in 25.1% of patients, while 52.5% presented symptomatic and inoperable tumors. The most common manifestations related to PNs were disfigurement and orthopedic involvement. Twenty patients developed neoplasms and ten (50%) presented with malignant peripheral nerve sheath tumors (MPNST). The prevalence of MPNST in our study was 2.9%.
conclusionsPatients with NF1 experience clinically significant morbidity, especially when it is associated with PN. Though there are many patients affected by NF1 in Brazil and other low- and middle-income countries, there is little data available in the corresponding literature. Our results are comparable to the previous results reported from higher-income countries and international registries.
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