Pular para o conteúdo
Neurofibroma
ORPHA:252183CID-10 · D36.1CID-11 · 2F3YDOENÇA RARA
neuroInício adulta

Neoplasia intraneural ou extraneural que surge de tecidos nervosos e bainhas neurais. É composto por fibroblastos semelhantes ao perineurial e células de Schwann. Geralmente se apresenta como uma lesão cutânea localizada e menos frequentemente como uma massa nervosa periférica circunscrita. Pacientes com neurofibromatose tipo 1 apresentam múltiplas massas. Os neurofibromas que surgem dos principais nervos e os neurofibromas plexiformes são lesões precursoras de tumores malignos da bainha dos nervos periféricos.

Última verificação: Fonte: sem afirmação sobre o SUS a verificarEm construçãohistóricoSugerir correção
Mantido por Agente Raras·Colaborar como especialista →

Introdução

O que você precisa saber de cara

💬
EM LINGUAGEM SIMPLES

O neurofibroma é um tumor benigno que se forma nos tecidos e nas capas protetoras dos nervos do nosso corpo. Na maioria das vezes, a pessoa ou a família nota uma lesão localizada na pele ou um pequeno nódulo sob ela, que costuma surgir na idade adulta. Alguns tipos mais profundos ou extensos podem pressionar nervos e causar desconfortos, exigindo monitoramento cuidadoso. Esta condição não conta com um protocolo específico (PCDT) no Ministério da Saúde nem com medicamentos fornecidos pelo SUS para este fim, sendo o manejo conduzido pela rede pública geral.

📋
Informacoes curadas por IA — podem conter imprecisoes

Neoplasia intraneural ou extraneural que surge de tecidos nervosos e bainhas neurais. É composto por fibroblastos semelhantes ao perineurial e células de Schwann. Geralmente se apresenta como uma lesão cutânea localizada e menos frequentemente como uma massa nervosa periférica circunscrita. Pacientes com neurofibromatose tipo 1 apresentam múltiplas massas. Os neurofibromas que surgem dos principais nervos e os neurofibromas plexiformes são lesões precursoras de tumores malignos da bainha dos nervos periféricos.

Pesquisas ativas
31 ensaios
69 total registrados no ClinicalTrials.gov
Publicações científicas
5.369 artigos
Último publicado: 2026 Apr 8
🏥
SUS: Sem cobertura SUSScore: 0%
CID-10: D36.1
Você se identifica com essa condição?
O Raras está aqui pra te apoiar — com ou sem diagnóstico

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Entender a doença

Do básico ao detalhe, leia no seu ritmo

Preparando trilha educativa...

Sinais e sintomas

O que aparece no corpo e com que frequência cada sintoma acontece

Partes do corpo afetadas

🧠
Neurológico
10 sintomas
🫃
Digestivo
3 sintomas
🦴
Ossos e articulações
2 sintomas
🧬
Pele e cabelo
2 sintomas
😀
Face
1 sintomas

+ 10 sintomas em outras categorias

Características mais comuns

100%prev.
Neurofibromas
55%prev.
Nódulos subcutâneos periarticulares
Frequente (79-30%)
55%prev.
Nervo periférico aumentado
Frequente (79-30%)
55%prev.
Neurofibroma plexiforme
Frequente (79-30%)
55%prev.
Neurofibromas subcutâneos
Frequente (79-30%)
17%prev.
Morfologia anormal do nervo craniano
Ocasional (29-5%)
28sintomas
Muito frequente (1)
Frequente (4)
Ocasional (6)
Muito raro (17)

Os sintomas variam de pessoa para pessoa. Abaixo estão as 28 características clínicas mais associadas, ordenadas por frequência.

Muito frequente100%
Nódulos subcutâneos periarticularesPeriarticular subcutaneous nodules
Frequente (79-30%)55%
Nervo periférico aumentadoEnlarged peripheral nerve
Frequente (79-30%)55%
Neurofibroma plexiformePlexiform neurofibroma
Frequente (79-30%)55%
Neurofibromas subcutâneosSubcutaneous neurofibromas
Frequente (79-30%)55%

Linha do tempo da pesquisa

Publicações por ano — veja quando o interesse científico cresceu
Anos de pesquisa1desde 2026
Total histórico5.369PubMed
Últimos 10 anos200publicações
Pico2025133 papers
Linha do tempo
2026Hoje · 2026🧪 1999Primeiro ensaio clínico📈 2025Ano de pico
Publicações por ano (últimos 10 anos)

Encontrou um erro ou informação desatualizada? Sugira uma correção →

Genética e causas

O que está alterado no DNA e como passa nas famílias

🧬

Nenhum gene associado encontrado

Os dados genéticos desta condição ainda estão sendo catalogados.

Diagnóstico

Os sinais que médicos procuram e os exames que confirmam

Carregando...

Tratamento e manejo

Remédios, cuidados de apoio e o que precisa acompanhar

Pipeline de tratamentos
Pipeline regulatório — de medicamentos já aprovados a drogas em pesquisa exploratória.
3Fase 33
2Fase 228
1Fase 114
·Pré-clínico24
Medicamentos catalogadosEnsaios clínicos· 0 medicamentos · 69 ensaios
Carregando informações de tratamento...

Onde tratar no SUS

Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)

🇧🇷 Atendimento SUS — Neurofibroma

🗺️

Selecione um estado ou use sua localização para ver resultados.

Dados de DATASUS/CNES, SBGM, ABNeuro e Ministério da Saúde. Sempre confirme a disponibilidade diretamente com o estabelecimento.

Pesquisa ativa

Ensaios clínicos abertos e novidades científicas recentes

Onde estão os ensaios

Com ensaio aberto em 5 países. O ponto verde marca onde há vaga agora.

🟢 Recrutando agora

17 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.

NCT06502171 · Study of Cabozantinib With Selumetinib for Plexiform Neurofi…Recrutando
PHASE1🇺🇸 Estados Unidos
NCT06735820 · Early Phase Study Evaluating MEK and MDM2 Inhibition in Pati…Recrutando
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT07298083 · DoD Award NF230020 Identification of Metabolic Markers and S…Recrutando
🇺🇸 Estados Unidos
NCT07407803 · Evaluation of TQ-B3234 Capsules in Patients With Symptomatic…Recrutando
PHASE3🇨🇳 China
NCT07102394 · Feasibility and Tolerability of IMLYGIC for the Treatment of…Recrutando
PHASE1🇺🇸 Estados Unidos
NCT06188741 · Selumetinib for the Prevention of Plexiform Neurofibroma Gro…Recrutando
PHASE2🇺🇸 Estados Unidos
NCT06961565 · PAS-004 in Adults Who Have Neurofibromatosis Type 1 With Ple…Recrutando
PHASE1🇦🇺 Austrália · South Korea · 🇺🇸 Estados Unidos
NCT06880991 · Development of Patient-Reported Outcome Measures Assessing T…Recrutando
🇺🇸 Estados Unidos
NCT06222203 · Surveillance for Malignant Transformation of Neurofibromatos…Recrutando
🇺🇸 Estados Unidos
NCT06360406 · Real-World Treatment Study of Koselugo (Selumetinib)Recrutando
South Korea
NCT06159166 · Mirdametinib Monotherapy in Adults With Neurofibromatosis 1 …Recrutando
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT05957679 · MRE Evaluation for Spinal Cord Tumor Surgery: Stiffness and …Recrutando
NA🇨🇳 China
NCT05199376 · Evaluation of Percutaneous Cryotherapy in the Treatment of P…Recrutando
NA🇫🇷 França
NCT02390752 · Phase I Trial of TURALIO(R) (Pexidartinib, PLX3397) in Child…Recrutando
PHASE1🇺🇸 Estados Unidos
NCT06300502 · Assessing the Efficacy of Repeat, Monthly Treatments of Deox…Por convite
PHASE1🇺🇸 Estados Unidos
NCT06515860 · Neurofibromatosis Type 1 Tumor Early Detection StudyPor convite
🇺🇸 Estados Unidos
NCT05238909 · Developing Biomarkers of Plexiform Tumor Burden in Patients …Por convite
🇺🇸 Estados Unidos

Outros ensaios clínicos

69 ensaios clínicos encontrados, 31 ativos.

Distribuição por fase
NCT07024394 · Follow-up Study to Evaluate the Safety and Efficacy of FCN-1…Em breve
PHASE1, PHASE2🇨🇳 China
NCT04924608 · Efficacy and Safety of Selumetinib in Adults With NF1 Who Ha…Ativo
PHASE3🇧🇷 Brasil · 🇦🇺 Austrália · 🇨🇦 Canadá +10
NCT06175637 · Observational Study to Evaluate the Effect and Safety of Sel…Ativo
🇨🇳 China
NCT06104488 · A Study of Avutometinib for People With Solid Tumor CancersAtivo
PHASE1🇺🇸 Estados Unidos
NCT05913037 · FCN-159 in Adult Patients With Symptomatic, Inoperable Neuro…Ativo
PHASE3🇨🇳 China
NCT05677594 · Multi-parametric Biomarker Development to Predict Malignant …Ativo
🇺🇸 Estados Unidos
NCT05581511 · Natural History Study of Cutaneous Neurofibromas in People W…Ativo
🇺🇸 Estados Unidos
NCT04954001 · Study to Evaluate the Safety, Tolerability, PK Characteristi…Ativo
PHASE1, PHASE2🇨🇳 China · 🇪🇸 Espanha · 🇺🇸 Estados Unidos
NCT04590235 · A Study of Selumetinib in Chinese Paediatric and Adult Subje…Ativo
PHASE1🇨🇳 China
NCT03962543 · MEK Inhibitor Mirdametinib (PD-0325901) in Patients With Neu…Ativo
PHASE2🇺🇸 Estados Unidos
NCT03363217 · Trametinib for Pediatric Neuro-oncology Patients With Refrac…Ativo
PHASE2🇨🇦 Canadá
NCT03820778 · Whole Body MRI to Identify Atypical Neurofibromas in Patient…Ativo
NA🇺🇸 Estados Unidos
NCT01362803 · AZD6244 Hydrogen Sulfate for Children With Nervous System Tu…Ativo
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT00924196 · Natural History Study of Patients With Neurofibromatosis Typ…Ativo
🇺🇸 Estados Unidos
NCT03090971 · Use of Topical Liquid Diclofenac Following Laser Microporati…Concluído
PHASE2🇧🇷 Brasil
NCT05438290 · DPCP to Treat Cutaneous Neurofibromas Associated With NF1Concluído
PHASE1🇺🇸 Estados Unidos
NCT05119582 · HIFU Treatment of Cutaneous Neurofibromas in Neurofibromatos…Concluído
NA🇩🇰 Dinamarca · 🇸🇪 Suécia
NCT05005845 · NFX-179 Topical Gel Treatment for Adults With Neurofibromato…Concluído
PHASE2🇺🇸 Estados Unidos
NCT04730583 · Tolerability of Device Based Therapies for Neurofibromatosis…Concluído
PHASE1🇺🇸 Estados Unidos
NCT04435665 · NFX-179 Topical Gel Treatment in Adults With Neurofibromatos…Concluído
PHASE2🇺🇸 Estados Unidos
NCT03326388 · Intermittent Dosing Of Selumetinib In Childhood NF1 Associat…Concluído
PHASE1, PHASE2🇬🇧 Reino Unido
NCT03531814 · Medication Adherence in Children, Adolescents and Adults Wit…Concluído
NA🇺🇸 Estados Unidos
NCT03231306 · Phase II Study of Binimetinib in Children and Adults With NF…Concluído
PHASE2🇺🇸 Estados Unidos
NCT02839720 · Selumetinib in Treating Patients With Neurofibromatosis Type…Concluído
PHASE2🇺🇸 Estados Unidos
NCT02332902 · Everolimus for Treatment of Disfiguring Cutaneous Lesions in…Concluído
PHASE2🇺🇸 Estados Unidos
NCT02096471 · MEK Inhibitor PD-0325901 Trial in Adolescents and Adults Wit…Concluído
PHASE2🇺🇸 Estados Unidos
NCT01800032 · PET/MRI in CNS and Extra-CNS Tumors of Patients With Neurofi…Concluído
🇺🇸 Estados Unidos
NCT01140360 · Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 71605…Concluído
PHASE1, PHASE2🇺🇸 Estados Unidos
NCT01412892 · Use of RAD001 as Monotherapy in the Treatment of Neurofibrom…Concluído
PHASE2🇫🇷 França
NCT01275586 · Study of Tasigna®/Nilotinib (AMN107) in Neurofibromatosis (N…Concluído
EARLY_PHASE1🇺🇸 Estados Unidos
NCT01031901 · Topical Rapamycin Therapy to Alleviate Cutaneous Manifestati…Concluído
PHASE1🇺🇸 Estados Unidos
NCT00846430 · Medical Treatment of "High-Risk" NeurofibromasConcluído
PHASE2🇺🇸 Estados Unidos
NCT01347307 · Stereotactic Body Radiotherapy for Spine TumorsConcluído
NA🇺🇸 Estados Unidos
NCT00727233 · Sorafenib to Treat Children and Young Adults With Neurofibro…Concluído
PHASE1🇺🇸 Estados Unidos
NCT00657202 · Ranibizumab for Neurofibromas Associated With Neurofibromato…Concluído
EARLY_PHASE1🇺🇸 Estados Unidos
NCT00396019 · Study of PEG-Intron for Plexiform NeurofibromasConcluído
PHASE2🇺🇸 Estados Unidos
NCT00314119 · Natural History and Biology of Skin Neurofibromas in Neurofi…Concluído
🇺🇸 Estados Unidos
NCT00111384 · Study of Disease Severity in Adults With Neurofibromatosis T…Concluído
🇺🇸 Estados Unidos
NCT00076102 · Pirfenidone in Children and Young Adults With Neurofibromato…Concluído
PHASE2🇺🇸 Estados Unidos
NCT00021541 · R115777 to Treat Children With Neurofibromatosis Type 1 and …Concluído
PHASE2🇩🇪 Alemanha · 🇺🇸 Estados Unidos
NCT03741101 · Treatment of NF1-related Plexiform Neurofibroma With Trameti…UNKNOWN
PHASE2🇸🇪 Suécia
NCT06379230 · A Retrospective Study on Epidemiological Characteristics of …UNKNOWN
🇨🇳 China
NCT01218139 · Analysis of Peripheral Nerve Sheath Tumors (PNSTs) in Neurof…UNKNOWN
🇧🇪 Bélgica
NCT05891847 · Non-interventional Study of Patients With PN NF1 Starting Se…Encerrado
Russia
NCT02728388 · Photodynamic Therapy for Benign Dermal Neurofibromas- Phase …Encerrado
PHASE2🇺🇸 Estados Unidos
NCT01365468 · Efficacy and Safety of RAD001 in Treating Plexiform Neurofib…Encerrado
PHASE2🇮🇱 Israel
NCT00716469 · Phase I Clinical Study of the Safety of Photodynamic Therapy…Encerrado
PHASE1🇺🇸 Estados Unidos
NCT00326872 · AZD2171 in Treating Patients With Neurofibromatosis Type 1 a…Encerrado
PHASE2🇺🇸 Estados Unidos
NCT02988726 · Antineoplaston Therapy in Treating Patients With Neurofibrom…Encerrado
PHASE2🇺🇸 Estados Unidos
NCT03688568 · Study of Imatinib in Children With Neurofibromatosis and Air…Cancelado
PHASE2🇺🇸 Estados Unidos
NCT03027401 · Clinical Sequencing of Cancer and Tissue Repository: OncoGen…Cancelado
🇺🇸 Estados Unidos
NCT01567787 · Proton Radiation Therapy for Spinal TumorsCancelado
NA
Ver todos no ClinicalTrials.gov
🧪 Está conduzindo uma pesquisa?
Divulgue para pacientes e familiares que acompanham esta doença.
Divulgar pesquisa →

Publicações mais relevantes

Timeline de publicações
2.010 papers (10 anos)

Mostrando amostra de 200 publicações de um total de 2.010

#1

Beyond nerve tumors: Differential diagnoses in suspected peripheral nerve sheath tumors.

Brain & spine2026

A subset of patients with suspected peripheral nerve sheath tumors (PNSTs) are ultimately found to have non-neurogenic pathologies mimicking PNSTs. This study analyzed such "drop-out" cases from the German Peripheral Nerve Tumor Registry (PNTR) to identify diagnostic pitfalls, assess imaging value, and clarify the role of intraoperative and histological findings. This retrospective PNTR sub-study reviewed patients initially registered with suspected PNST who were later reclassified as "drop-out" cases due to intraoperative or histopathological findings inconsistent with PNST. Patients were treated at two high-volume nerve centers (University Hospital Essen and BKH Günzburg). Clinical data, imaging, surgical notes, and histopathology were analyzed descriptively, focusing on presentation, diagnostic discrepancies, nerve involvement, and surgical strategy. Of 590 registered patients, 50 (8.5%) were reclassified. The mean age was 50.8 years (range 19-90); 29 were men and 21 women. Most lesions were in the upper extremity (68%). Final diagnoses included benign soft tissue tumors (32%), malignant tumors (14%), inflammatory/immune-mediated (10%), non-neoplastic/reactive (10%), traumatic/regenerative neuromas (10%), cystic (10%), misdiagnoses/non-tumorous (10%), and vascular lesions (4%). Pain was the most frequent symptom (n = 33). Intraneural growth occurred mainly in inflammatory, reactive, and traumatic lesions, whereas non-PNSTs typically showed nerve contact only. Surgery ranged from fascicle biopsy to gross total resection. About one in twelve suspected PNSTs represented alternative pathologies. Red flags included absent intraneural growth, nonspecific pain, cubital tunnel clustering, and frequent biopsy need. Awareness of PNST mimics and meticulous imaging review are crucial to prevent misclassification and preserve function.

#2

Prolonged Mitogen-Activated Protein Kinase Kinase (MEK) Inhibition Induces Increase in Proteolysis and Compensatory Phosphorylation of MEK and Protein Kinase B (AKT) in Plexiform Neurofibroma Cells.

Cells2026 Feb 28

Plexiform neurofibromas associated with neurofibromatosis type I (pNF1s) are benign tumors caused by the complete loss of function of the NF1 gene, which encodes a negative regulator of the RAS/mitogen-activated protein kinase (MAPK) pathway. pNF1s carry a significant risk of progression to malignant peripheral nerve sheath tumors (MPNSTs), which are highly aggressive and largely incurable. FDA-approved mitogen-activated protein kinase kinase (MEK) inhibitors, selumetinib and mirdametinib, have shown ~30% tumor shrinkage in 70% and 42% pNF1 patients, respectively. However, not all pNF1s respond to MEK inhibition, and treatment is often associated with adverse effects such as dermatologic and gastrointestinal toxicities, underscoring the need for improved therapeutic strategies with minimal side effects. Here, we demonstrate that prolonged MEK inhibition increases proteolytic activity in 3D pNF1 tumor structures, consistent with enhanced extracellular matrix degradation. Prolonged treatment with four mechanistically and chemically distinct MEK inhibitors consistently reduced ERK phosphorylation, a downstream effector of the RAS/MAPK pathway, yet induced adaptive phosphorylation of MEK and AKT in pNF1 tumor cells. Phosphorylation of MEK is required for its catalytic activation and subsequent phosphorylation of ERK. Increased MEK phosphorylation in the presence of MEK inhibitors reflects upstream pathway reactivation but does not lead to ERK phosphorylation and activation because of the presence of the inhibitor. This response was also observed in MPNST cell lines treated with MEK inhibitors. These findings suggest that adaptive activation of upstream and parallel survival pathways may counteract the intended effects of MEK inhibition and support the rationale for combination strategies to improve therapeutic outcomes in NF1-associated tumors.

#3

Giant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique.

Surgical neurology international2026

Malignant peripheral nerve sheath tumors (MPNSTs) are one of the most difficult malignant mesenchymal neoplasms to treat. They can arise from a preexisting peripheral nerve sheath or in neurofibromatosis type 1 (NF1) patients. MPNSTs in the head-and-neck region represent approximately 2-6% of all head-and-neck sarcomas and account for 12-19% of all MPNSTs. It has an incidence of 0.001% in the general population, and prognosis is typically poor; only between 20% and 50% of patients survive 5 years after diagnosis. The complete surgical resection is recommended whenever possible. The authors report the case of a 31-year-old woman with a history of plexiform neurofibroma, who presented with recurrence with disease progression to MPNST, without association with NF1 disease. The aim of tumor resection is symptomatic relief. These tumors have a high risk of severe complications and even mortality due to various causes. The benefits - including the emotional ones - can be so significant that, despite their malignant lineage, resection and regrowth control remain worthwhile for as long as possible. Four- or six-hand surgery for these tumors can reduce bleeding, operative time, and complications.

#4

Pharmacokinetics and Safety of Selumetinib Granule Formulation in Children With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas (SPRINKLE; phase I/II).

Journal of clinical oncology : official journal of the American Society of Clinical Oncology2026 Jan 27

Neurofibromatosis type 1 (NF1)-associated plexiform neurofibroma (PN) can substantially affect quality of life. The capsule and granule formulations of selumetinib (ARRY-142886, AZD6244) are approved for pediatric patients with symptomatic, inoperable NF1-PN (age ≥1 to 3 years, region dependent). SPRINKLE (ClinicalTrials.gov identifier: NCT05309668) assessed pharmacokinetics (PK), safety, and palatability of the selumetinib granule formulation in children (age ≥1 to <7 years) with symptomatic, inoperable NF1-PN. Participants enrolled into Global Cohort (GC)1 (≥4 to <7 years), GC2 (≥1 to <4 years), or the Japan Cohort (JC; ≥1 to <7 years) received selumetinib 25 mg/m2 (dose equivalent) twice a day in 28-day cycles. Primary objectives assessed single-dose selumetinib PK exposure (area under concentration-time curve from time 0-12 hours [AUC0-12]) in GCs and selumetinib safety. Secondary objectives assessed selumetinib and N-desmethyl selumetinib metabolite PK (single/multiple dose), and palatability. At first data cutoff (April 8, 2024), all participants had completed ≥3 cycles. There were 36 participants (GC1: n = 15, GC2: n = 17, JC: n = 4). Geometric mean (95% CI) selumetinib AUC0-12 (single dose) in GC1 (n = 13) and GC2 (n = 15) was 1,902 (1,647 to 2,197) and 1,699 (1,436 to 2,009) h × ng/mL, respectively. Primary PK end point was met: 95% CIs of AUC0-12 (single dose) were within the acceptance range on the basis of the capsule formulation exposure. Median duration of exposure was approximately 11 months (range, 2.7-25.3). 97.2% of participants had ≥1 treatment-related adverse event; most were grade 1 or 2 and none led to discontinuation or dose reduction. Most participants reported swallowing the medication without problems. Selumetinib granule formulation (25 mg/m2 dose equivalent, twice a day) had comparable exposure to selumetinib capsule formulation, and was palatable with a manageable safety profile. Selumetinib granule formulation is potentially suitable for young children with NF1-PN who cannot swallow capsules.

#5

HMGB1 affects the progression of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors through E2F2.

Cancer cell international2026 Jan 24

Malignant peripheral nerve sheath tumors (MPNSTs) represent the most severe complication of neurofibromatosis type 1 (NF1), with limited therapeutic options and poor prognosis. High-mobility group box 1 (HMGB1) is a chromatin-associated protein implicated in various cancers, yet its functional role and mechanistic involvement in NF1-MPNST progression remain poorly understood. We integrated single-cell RNA sequencing (scRNA-seq) and bulk RNA-seq analyses of patient-derived NF1-MPNST and plexiform neurofibroma (PNF) tissues. Functional validation was performed using NF1 cell lines with HMGB1 knockdown and overexpression. Mechanistic insights were explored via CUT&Tag, ChIP‒qPCR, qPCR, and Western blot. In vivo tumor growth was assessed using a xenograft mouse model. HMGB1 was significantly upregulated in malignant CNV-high subpopulations of MPNSTs and correlated with poor patient survival. Functional assays demonstrated that HMGB1 knockdown suppressed tumor proliferation, migration, and invasion, and induced G1 arrest, while its overexpression promoted these phenotypes. Mechanistically, HMGB1 directly bound to the E2F2 promoter and activated its transcription, thereby driving the G1/S transition. In vivo, HMGB1 overexpression accelerated tumor growth, whereas knockdown suppressed it, consistent with modulated E2F2 and Ki-67 expression. Our study identifies HMGB1 as a key oncogenic driver in NF1-MPNST progression, functioning through direct transcriptional activation of E2F2 to promote cell cycle progression and tumor malignancy. These findings position HMGB1 as both a prognostic biomarker and a promising therapeutic target for NF1-associated MPNSTs.

Publicações recentes

Ver todas no PubMed

📚 EuropePMC2.514 artigos no totalmostrando 197

2026

Benign Peripheral Nerve Sheath Tumors: Recurrence Rates and Pain Outcomes Following Excision.

Plastic and reconstructive surgery
2026

Beyond nerve tumors: Differential diagnoses in suspected peripheral nerve sheath tumors.

Brain &amp; spine
2026

Brachial plexus tumours: diagnosis, treatment, surgical approach and outcomes in 47 patients.

Neurocirugia
2026

Adult patient and caregiver perspectives on the impact of NF1-PN: Insights from a US qualitative survey.

Neuro-oncology advances
2026

Left Inguino-Scrotal-Perineal Neurofibroma: A Report of a Rare Case and Review of Literature.

Cureus
2026

A rare case report of solitary neurofibroma arising in the male breast.

International journal of surgery case reports
2026

Case Report: Somatic NF2 mutation in a vestibular schwannoma arising in a patient with neurofibromatosis type 1.

Frontiers in oncology
2026

The Complexities of Periorbital Neurofibroma: Diagnostic Ambiguity and Therapeutic Dilemmas: A Case Report and Literature Review.

Diagnostics (Basel, Switzerland)
2026

Prolonged Mitogen-Activated Protein Kinase Kinase (MEK) Inhibition Induces Increase in Proteolysis and Compensatory Phosphorylation of MEK and Protein Kinase B (AKT) in Plexiform Neurofibroma Cells.

Cells
2026

Stepping into clarity: high-resolution ultrasound unveils the hidden spectrum of ankle and foot pain.

Journal of ultrasound
2026

An Unsuspected Intraneural Perineurioma in a Pediatric Patient: A Case Report.

Cureus
2026

Mirdametinib in symptomatic neurofibromatosis type 1 plexiform neurofibromas.

Expert review of anticancer therapy
2026

Case Report: Parapharyngeal Leiomyosarcoma Mimicking Neurofibroma.

Clinical case reports
2026

Neurofibromatosis type 1 with unilateral macrodactyly-like overgrowth: a case report.

Case reports in plastic surgery &amp; hand surgery
2026

[Immunohistochemistry of melanocytic tumours].

Pathologie (Heidelberg, Germany)
2026

Precision restoration of complex cervical instability and decompression for neurofibromatosis type I: a case report using patient-specific 3D-printed templates.

Frontiers in surgery
2026

Isolated Anterior Mesenteric Neurofibroma: A Rare Manifestation of Neurofibromatosis Type 1.

Cureus
2026

Giant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique.

Surgical neurology international
2026

A 17-Year-Old Male Adolescent With a Giant Isolated Scalp Neurofibroma Associated With a Calvarial Defect: A Case Report.

The American journal of case reports
2026

Single-cell transcriptomic profiling of malignant peripheral nerve sheath tumors.

Neuro-oncology advances
2026

Unusual Presentation of Plexiform Neurofibroma Embedded with Large Comedones: A Case Report.

Case reports in dermatology
2026

Large Pleomorphic Adenoma of The Upper Lip in a Middle-Aged Woman With Facial Deformity, Tooth Displacement, and Bone Loss: Uncommon Clinical Presentation of a Benign Tumor.

Case reports in dentistry
2026

Proof-of-principle of NF1 gene therapy in plexiform neurofibroma xenograft mouse models.

Communications biology
2026

Diagnosis, treatment management, and challenges in neurofibromatosis type 1: a case report with mixed features.

Annals of medicine and surgery (2012)
2025

Laryngeal neurofibroma: case report and review of the literature.

Frontiers in oncology
2026

Efficacy and Safety of Tunlametinib in Adults with Inoperable Neurofibromatosis Type 1-Associated Plexiform Neurofibromas: Phase IIa Trial and Biomarker Research.

Clinical cancer research : an official journal of the American Association for Cancer Research
2026

Impaired Bone Healing and Fracture Complications during Limb Lengthening in a Neurofibromatosis Type 1 Patient Receiving Selumetinib: Case Report and Literature Review.

Journal of orthopaedic case reports
2026

Hepatic plexiform neurofibroma a rare manifestation of neurofibromatosis type 1: A case report and literature review.

Radiology case reports
2026

Mechanical Stiffening Promotes Growth, Invasion, and Mitogen-Activated Protein Kinase Kinase (MEK) Inhibitor Resistance in 3D Plexiform Neurofibroma Cultures.

bioRxiv : the preprint server for biology
2026

Fatal Pericarditis and Cardiac Tamponade During Selumetinib Treatment for Pericardial Neurofibroma.

The Journal of dermatology
2025

[Neurofibromatosis 1-related tumors in pediatric patients].

Problemy endokrinologii
2026

A rare case of plexiform neurofibroma.

Radiology case reports
2025

Internal carotid artery sympathetic plexus neurofibroma - A case report.

Surgical neurology international
2026

[Clinical characteristics and genetic analysis of 22 Chinese pedigrees affected with Neurofibromatosis type I].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Plexiform Neurofibroma of the Vulva in a Patient With Neurofibromatosis Type 1.

Cureus
2026

Dermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1.

Journal of clinical medicine
2026

Pharmacokinetics and Safety of Selumetinib Granule Formulation in Children With Symptomatic, Inoperable Neurofibromatosis Type 1-Related Plexiform Neurofibromas (SPRINKLE; phase I/II).

Journal of clinical oncology : official journal of the American Society of Clinical Oncology
2026

FAP expression as a marker of malignant transformation enabling in vivo characterization in peripheral nerve sheath tumors: a multimodal and translational study.

Acta neuropathologica
2026

HMGB1 affects the progression of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors through E2F2.

Cancer cell international
2026

Clinical and Humanistic Burden Among Adults with Neurofibromatosis Type 1 and Symptomatic Plexiform Neurofibroma in the United States.

Neurology and therapy
2026

Isolated Neurofibroma of the Gallbladder and Common Bile Duct Mimicking Malignancy: A Rare Case Report and Review of Literature.

The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi
2026

Biallelic NF1 Inactivation and Widespread Loss of Heterozygosity in a Subset of Unclassified Fibromyxoid Mesenchymal Neoplasms.

Genes, chromosomes &amp; cancer
2026

Immortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.

PloS one
2026

Neurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series.

Medwave
2026

Microenvironmental TGF-β is an early driver of NF1-associated tumor formation.

Cell reports
2025

Large Asymptomatic Schwannoma of the Tongue: An Unusual Case Report With Clinical, Radiologic, and Histopathological Correlation.

Cureus
2026

Prevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study.

Orphanet journal of rare diseases
2025

Dorsolumbar Junction Spinal Tumors at a Tertiary Care Center in Pakistan: Neurofibroma Predominance and Surgical Outcomes.

Pakistan journal of medical sciences
2026

Long-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1.

Cancer diagnosis &amp; prognosis
2025

Malignant peripheral nerve sheath tumors in neurofibromatosis type 1 arise from distinct nodular lesions: A retrospective imaging analysis.

Neuro-oncology advances
2025

The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications.

Cancers
2026

MOIS-SAM2: Exemplar-based segment anything model 2 for multi-lesion interactive segmentation of neurofibromas in whole-body MRI.

Computers in biology and medicine
2025

[Detection of neurofibroma combining radiomics and ensemble learning].

Sheng wu yi xue gong cheng xue za zhi = Journal of biomedical engineering = Shengwu yixue gongchengxue zazhi
2025

A Rare Case of Progressive and Invasive Adult Fibrosarcoma: Retroperitoneal Tumour Involving the Duodenum.

Cureus
2025

Solitary diffuse-type giant neurofibroma arising from the sciatic nerve in a 13-year-old: A rare occurrence.

Oncoscience
2025

[Clinical characteristics and surgical management of primary intralabyrinthine tumor].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2026

A Solitary Giant Neurofibroma of the Left Chest.

The Journal of craniofacial surgery
2026

The first year of treatment with selumetinib for NF1-related plexiform neurofibroma is medically challenging in real-life settings.

Annales de dermatologie et de venereologie
2025

Primary ectopic meningioma of the brachial plexus: A case report and literature review.

Surgical neurology international
2026

Phenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional study.

JAAD international
2026

Pharmacokinetic-Based Dose Adjustment of Selumetinib in 2 Young Children With Neurofibroma.

Pediatric neurology
2025

Unmasking benign intradural-extramedullary spinal tumors: a systematic review on treatment outcomes and radiological features.

Annals of medicine and surgery (2012)
2025

Retroperitoneal and pelvic schwannoma/neurofibroma resection: surgical strategies and outcomes in a neurosurgical cohort.

Acta neurochirurgica
2026

Blurring the Lines: Co-Occurrence of MSH6 Variant and MLH1 Constitutional Epimutation in a Young Colorectal Cancer Patient.

Clinical genetics
2025

An Episcleral Lesion in a Patient With Neurofibromatosis Type 1.

Ophthalmic plastic and reconstructive surgery
2025

Diagnostic challenges of the neurofibroma-malignant peripheral nerve sheath tumor spectrum in neurofibromatosis type 1: illustrative case.

Journal of neurosurgery. Case lessons
2025

Optic Nerve Glioma, Plexiform Neurofibroma, and Secondary Glaucoma in a Child With a Rare NF1 Variant (p.Gln83Ter): A Case Report.

Cureus
2025

[Rare giant solitary vagus neurofibroma of the neck: a case report and literature review].

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery
2025

Cervical dumbbell meningioma exhibiting distinct histopathological subtypes in intradural and extradural components: a case report.

BMC neurology
2025

Malignant Peripheral Nerve Sheath Tumor Arising After Superficial Neurofibroma Excision: A Rare Sporadic Case in a Patient Without Neurofibromatosis Type 1.

Cureus
2026

Radiological insights into orbital and periorbital plexiform neurofibromas in children with neurofibromatosis type 1.

Radiology case reports
2026

A Nonparametric Population Pharmacokinetic Model of Selumetinib in Pediatric Patients Diagnosed With Neurofibromatosis-I or Plexiform Neurofibromas.

CPT: pharmacometrics &amp; systems pharmacology
2025

Neurofibromatosis review with focus on rehabilitation intervention.

Current problems in pediatric and adolescent health care
2025

High Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.

Genes
2026

Stigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D.

The British journal of dermatology
2025

Pacinian Neurofibroma of Oral Cavity: A Rare Neurogenic Tumor.

Journal of dentistry (Shiraz, Iran)
2025

Hybrid neurofibroma/schwannoma in schwannomatosis-a diagnostically challenging benign peripheral nerve sheath tumour.

Familial cancer
2025

Anatomy-informed deep learning and radiomics for neurofibroma segmentation in whole-body MRI.

Computerized medical imaging and graphics : the official journal of the Computerized Medical Imaging Society
2026

Malignant peripheral nerve sheath tumors in schwannomatosis: a case series.

Journal of neurosurgery
2025

Case Report of a Giant Mediastinal Neurofibroma Misdiagnosed as Massive Pleural Effusion.

Clinical case reports
2025

Neurofibroma of the Posterior Ankle: A Case Report.

Cureus
2025

Occipital Bone Defect With Meningoencephalocele and Plexiform Neurofibroma in Neurofibromatosis-1.

Cureus
2026

Effect of Different Melanin-bleaching Methods on Staining.

Applied immunohistochemistry &amp; molecular morphology : AIMM
2025

SOX11 is frequently expressed in ETV6::NTRK3-rearranged infantile fibrosarcoma and congenital mesoblastic nephroma.

Virchows Archiv : an international journal of pathology
2025

Salvage of necrotic flap following malignant peripheral nerve sheath tumor excision using multimodal pharmacotherapy: a case report.

Frontiers in oncology
2025

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas.

Journal of visualized experiments : JoVE
2025

Phase 1 Study of Luvometinib Use in Pediatric Patients with Neurofibromatosis Type 1-Related Unresectable Plexiform Neurofibromas.

Targeted oncology
2025

Mitogen-Activated Proteinkinase Kinase Inhibition Results in Rapid and Dramatic Shrinkage of a Facial Plexiform Neurofibroma in a 6-Month-Old Infant.

Pediatric neurology
2025

Intraosseous Cellular Schwannoma in the Infraorbital Region: A Rare Case.

The American journal of case reports
2025

Role of Peripheral Nerve Blocks for Management of Chronic Pain From Inoperable Neurofibromatosis Type 1-Associated Neurofibromas: A Case Report.

Pain medicine case reports
2025

Cutaneous Neufibroma in the Absence of Classical NF1 Features: A Case Report and Literature Review.

Dermatopathology (Basel, Switzerland)
2025

Temporomandibular joint ankylosis following bimaxillary surgery in a patient with neurofibromatosis type 1: a case report.

Oral and maxillofacial surgery
2026

Multidisciplinary Management of Plexiform Neurofibromas in Pediatric Patients With Neurofibromatosis 1: Insights From Advisory Board-Guided Clinical Experience in Japan.

The Journal of dermatology
2025

Mirdametinib: FDA approved MEK inhibitor for neurofibromatosis type 1.

Cancer chemotherapy and pharmacology
2025

A Retrospective Study of Diffuse Plexiform Neurofibroma With Surgical Intervention in Neurofibromatosis 1.

The Journal of dermatology
2025

The spectrum of pathogenic NF1 variants in participants enrolling on clinical trials of MEK inhibitors for plexiform neurofibroma.

Human genetics
2025

Corrigendum for Humanized neurofibroma model from induced pluripotent stem cells delineates tumor pathogenesis and developmental origins.

The Journal of clinical investigation
2025

Glomus Tumour of Sciatic Nerve - A Rare Presentation Mimicking Sciatica.

Journal of orthopaedic case reports
2025

Giant retroperitoneal solitary neurofibroma.

BMJ case reports
2026

Measurement of the severity related to cutaneous neurofibromas in neurofibromatosis type 1: Development and validation of the Nef-ASI.

Journal of the American Academy of Dermatology
2025

Reviewer Comment on Ramaswamy et al. "A National Modified Delphi Consensus on the Referral and Management of NF1 Plexiform Neurofibroma".

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2025

A Unique Finding in an Adolescent Male: A Case Report Navigating in Detail about Oral Neurofibroma.

International journal of clinical pediatric dentistry
2025

The skull base in NF1 phenotypes on lateral cephalograms.

Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery
2025

Juvenile xanthogranuloma as a potential early manifestation of neurofibromatosis type 1: A case report.

Medicine
2025

Cellular schwannoma of the base of tongue: A case report.

Journal of cancer research and therapeutics
2025

3D Model-Guided Robot-Assisted Giant Presacral Ganglioneuroma Exeresis by a Uro-Neurosurgeons Team: A Case Report.

Reports (MDPI)
2025

Therapeutic Advances in Neurofibromatosis Type 1: A Focus on Selumetinib.

Skin therapy letter
2025

An evolving supraclavicular plaque: diagnostic challenges in dermatofibrosarcoma protuberans with atrophic and myxoid features.

Dermatology online journal
2025

Dendritic Cell Neurofibroma With Pseudorosettes: A Case Report.

Cureus
2026

Single staged transorbital neuroendoscopic (TONES) approach of managing pulsatile proptosis using patient specific implant (PSI) in orbitopalpebral neurofibromatosis.

Orbit (Amsterdam, Netherlands)
2025

Targeted Therapies in Neurofibromatosis Type 1.

American journal of medical genetics. Part C, Seminars in medical genetics
2026

Prevalence of Oral Alterations and Correlation Between Oral and Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Retrospective Case-Control Study.

Journal of oral pathology &amp; medicine : official publication of the International Association of Oral Pathologists and the American Academy of Oral Pathology
2025

Mirdametinib, an FDA-Approved MEK1/2 inhibitor for adult and pediatric NF1-associated plexiform neurofibromas.

Expert opinion on investigational drugs
2025

Cord Tethering By Plexiform Neurofibroma: A Rare Cause of Neurological Deficit in Dystrophic Scoliosis: A Case Report.

JBJS case connector
2025

[Single digit nail clubbing].

Nederlands tijdschrift voor geneeskunde
2025

Surgical Measures Improving Functional Limitations of the Masticatory System, Aesthetic Deficits, and Skeletal Malformations in Neurofibromatosis Type 1-associated Hemifacial Diffuse Plexiform Neurofibroma Complicated by Rapidly Growing Midfacial Peripheral Nerve Sheath Tumor.

Cancer diagnosis &amp; prognosis
2025

High resolution nerve ultrasound in neurofibromatosis type 1: a prospective and descriptive study.

Clinical neurophysiology : official journal of the International Federation of Clinical Neurophysiology
2025

Selumetinib Treatment in a Neurofibromatosis Type 1 Child With Second Hit Mutation on the NF1 Gene.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience
2025

A National Modified Delphi Consensus on the Referral and Management of NF1 Plexiform Neurofibroma.

The Canadian journal of neurological sciences. Le journal canadien des sciences neurologiques
2025

Treatment of giant encephalocele and occipital defect in a child with neurofibromatosis type 1: illustrative case.

Journal of neurosurgery. Case lessons
2026

Sacroiliac Joint Involvement: An Underreported Complication of NF1.

American journal of medical genetics. Part A
2025

'Alone on our NF1 island': a patient-led mixed-method survey study to understand the care pathway for neurofibromatosis type 1 (NF1) patients in the UK.

BMJ open quality
2025

Fibroblasts Attenuate Anti-Tumor Drug Efficacy in Tumor Cells via Paracrine Interactions with Tumor Cells in 3D Plexiform Neurofibroma Cultures.

Cells
2025

A Solitary Diffuse Neurofibroma in a Young Adult Female: An Unusual Presentation in the Scapular Region.

Cureus
2025

Microscopic Minimal Invasive Resection of Spinal Tumor with Tubular Retractor System: Case Studies of 70 Patients with Literature Review.

Asian journal of neurosurgery
2025

A consensus on the diagnosis and management of neurofibromatosis type 1 in Taiwan.

Journal of the Formosan Medical Association = Taiwan yi zhi
2026

Trametinib in Adults with Neurofibromatosis Type 1-Related Symptomatic Plexiform Neurofibromas.

Annals of neurology
2025

Isolated neurofibroma of the nasal vestibule: A rare case of the myxoid subtype and imaging-based differential diagnosis.

Radiology case reports
2025

Solitary Neurofibroma in Lower Lip - A Case Report.

The Bulletin of Tokyo Dental College
2025

Real-world experience with selumetinib in children with neurofibromatosis type 1: a multicentric retrospective study.

Journal of neuro-oncology
2026

Visual Improvement in a Child With Periorbital Plexiform Neurofibroma Treated With Selumetinib: Case Report and Literature Review.

Ophthalmic plastic and reconstructive surgery
2025

The Morphologic Spectrum of NF Mutated Desmoplastic Melanocytic Neoplasms.

The American Journal of dermatopathology
2025

Refined genotype-phenotype correlations in neurofibromatosis type 1 patients with NF1 point variants.

Journal of medical genetics
2025

A Pediatric Case of Neurofibromatosis Type 1-Associated Malignant Peripheral Nerve Sheath Tumor of the Scalp.

Plastic and reconstructive surgery. Global open
2025

Luvometinib: First Approval.

Drugs
2025

Protein Kinase C-alpha Gene Fusions in Dendritic Cell Neurofibroma: Distinction From Conventional Neurofibroma.

The American journal of surgical pathology
2025

Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma.

Pharmaceuticals (Basel, Switzerland)
2025

Selumetinib in pediatric patients with neurofibromatosis type 1 and plexiform neurofibroma: Propensity score analysis of SPRINT vs. natural history control arm.

Neuro-oncology advances
2025

Neurofibroma of Cecum with Ileocecal Granuloma.

Digestive diseases and sciences
2025

Giant Atypical Neurofibroma of the Calf in Neurofibromatosis Type 1: Case Report and Literature Review.

Reports (MDPI)
2025

[New advances in the diagnosis and pharmacological treatment of plexiform neurofibromas associated with type 1 neurofibromatosis in children].

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery
2025

The recurrence and multi-organ involvement of giant penile plexiform neurofibroma in an adult with neurofibromatosis type 1: a case report.

BMC urology
2025

Breast carcinoma in a patient with neurofibromatosis type 1 and huge plexiform neurofibroma of the contralateral breast: a case report.

BMC women's health
2025

Anterior vaginal wall neurofibroma in neurofibromatosis type 1 causing lower urinary tract symptoms.

BMJ case reports
2025

Unraveling the development of cutaneous neurofibromas in neurofibromatosis type 1.

Acta neuropathologica communications
2026

Pigmented Birthmarks and Spinal Neurofibromas in KRAS Mosaicism-Not to Be Confused With NF1.

Pediatric dermatology
2025

Excision of an Unexpected Retroperitoneal Mass at Laparoscopy.

Cureus
2024

Utility of Genetic Testing of Various Tissues in Localized Mosaic Neurofibromatosis.

Acta dermatovenerologica Croatica : ADC
2025

Excision of a Solitary Neurofibroma in the Right Masseter Muscle via a High Perimandibular Approach: A Case Report and Review of the Literature.

Case reports in dentistry
2026

Qualitative aspects of pain in children and adults with neurofibromatosis type 1 and plexiform neurofibromas: Causes, consequences, and communication.

Journal of health psychology
2025

Malignant peripheral nerve sheath tumor in early childhood: a case report of a diagnostic challenge.

Frontiers in oncology
2025

Surgical management of giant neurofibroma in a pediatric patient: A case report.

Science progress
2025

Solitary intraoral pyogenic granuloma in neurofibromatosis type 1: diagnostic conundrum.

BMJ case reports
2025

Buttock Reconstruction With Hatchet-type Lumbosacral Flap After Resecting Diffuse Plexiform Neurofibroma With Methicillin Resistant Staphylococcus aureus-infected Intratumoral Hematoma.

Plastic and reconstructive surgery. Global open
2025

Single-cell tumor microenvironment profiling informs a circulating proteome test for the interception of malignant transformation in NF1 nerve sheath tumors.

Research square
2025

[A clinical case of type 1 neurofibromatosis associated with a rare genotype].

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova
2025

Plexiform Schwannoma of the Foot: A Case Report.

Cureus
2025

Clinical Efficacy of Selumetinib in Alleviating Neuropathic Pain Associated with Plexiform Neurofibroma: A Case Series.

Genes
2025

[Analysis of clinical characteristics and NF1 gene variants in a child with Neurofibroma-Noonan syndrome].

Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
2025

Brown Tumor of Hyperparathyroidism Presenting as Mandibular Mass.

The Journal of the Association of Physicians of India
2025

Solitary Plexiform Neurofibroma in the Urachus Associated With von Recklinghausen's Disease.

Cureus
2025

TGFβ-dependent signaling drives tumor growth and aberrant extracellular matrix dynamics in NF1-associated plexiform neurofibroma.

Science advances
2026

Plexiform Neurofibroma Incidentally Detected by Chest X-ray.

Internal medicine (Tokyo, Japan)
2025

Using Durometers to Quantify Stiffness as an Outcome Measure for Cutaneous Neurofibroma in Neurofibromatosis Type 1.

JID innovations : skin science from molecules to population health
2025

Anesthetic management of endovascular embolization in a patient of neurofibromatosis with associated aortic and multisystemic vasculopathy: A case report.

Brain circulation
2026

Atypical presentations and neurosurgical Synergy in the treatment of paravertebral tumors in children: Lessons from a single institution.

Pediatrics and neonatology
2025

Pediatric Spindle Cell Tumor in Head and Neck Region: A Case Series.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2025

Plexiform Neurofibroma Versus Parotid Tumour - A Challenge in Management.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2025

Engineered AAV capsids mediate transduction of murine neurofibroma and sciatic nerve.

Gene therapy
2025

Enteric Neuromuscular Manifestations in Neurofibromatosis Type I.

Neurogastroenterology and motility
2025

Beyond Hybrid Morphology: A Large Series of Fusion-Driven Benign Peripheral Nerve Sheath Tumors Including 5 Tumors With Novel Fusions.

Modern pathology : an official journal of the United States and Canadian Academy of Pathology, Inc
2025

Efficacy and safety of selumetinib in adults with neurofibromatosis type 1 and symptomatic, inoperable plexiform neurofibromas (KOMET): a multicentre, international, randomised, placebo-controlled, parallel, double-blind, phase 3 study.

Lancet (London, England)
2025

Precision Medicine for Pediatric Glioma and NF1-Associated Tumors: The Role of Small Molecule Inhibitors.

Current oncology (Toronto, Ont.)
2025

Mirdametinib: First Approval.

Drugs
2025

Dermatology images: Frequent cutaneous findings in neurofibromatosis type 1.

Journal of the American Academy of Dermatology
2025

Nipple-Areolar Complex Neurotization Following Nipple-sparing Mastectomy and Breast Reconstruction for Solitary Breast Neurofibroma.

Plastic and reconstructive surgery. Global open
2025

Intraneural Neurofibroma.

Indian dermatology online journal
2025

Mass spectrometric insights into the protein composition of human cutaneous neurofibromas: comparison of neurofibromas with the overlying skin.

British journal of cancer
2025

Plexiform neurofibroma infiltrating uterine cervix and parametrium, causing hydronephrosis: A case report and review of the literature.

International journal of gynaecology and obstetrics: the official organ of the International Federation of Gynaecology and Obstetrics
2025

Transorbital approach for a Meckel's cave hybrid benign tumor: operative video and technical nuances.

Neurosurgical focus: Video
2025

Cavernous malformation in the lumbar nerve rootlet.

Surgical neurology international
2025

Burkitt's lymphoma presenting as multiple nerve sheath tumors of the cauda equina.

Surgical neurology international
2025

Severe cervical kyphosis in a complex child with NF1, case report and literature review.

Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery
2025

Treatment of Plexiform Neurofibromas : Current Perspectives on Surgery and Medical Treatment.

Journal of Korean Neurosurgical Society
2025

Recurrent isolated orbital neurofibromas in the absence of NF1: Clinical insights and diagnostic challenges.

Clinical neuropathology
2025

Facial Diffuse Plexiform Neurofibroma-associated Mandibular Deformities: Surgical Interventions and Monitoring of Treatment Results in a Patient for Over 40 Years.

Cancer diagnosis &amp; prognosis
2025

Recurrent Diffuse Neurofibroma of the Mandibular Anterior Lingual Alveolar Process Associated With Dental and Skeletal Changes in Neurofibromatosis Type 1.

Cancer diagnosis &amp; prognosis
2025

Endoscopic Ultrasonography Helps to Identify Benign Biliary Neurofibroma.

Digestive diseases and sciences
2025

Case Report: Two cases of atypical neurofibroma neoplasm of uncertain biological potential in the nasal cavity and a literature review.

Frontiers in oncology
2025

Development of patient reported outcome measures assessing tumor pain intensity and tumor pain interference for individuals with neurofibromatosis type 1 and plexiform neurofibromas: qualitative findings.

Journal of patient-reported outcomes
2025

Surgical Management of Peripheral Nerve Schwannomas in Non-Neurofibromatosis Type 2 Schwannomatosis.

Operative neurosurgery (Hagerstown, Md.)
2025

Microcystic Pseudoglandular Cutaneous Neurofibroma: The First Japanese Case of a Rare Neurofibroma Variant.

The Journal of dermatology
2025

Challenges of Selumetinib Therapy for Neurofibromatosis in a Resource-Limited Setting.

Cureus
2025

Intracranial Hybrid Neurofibroma/Schwannoma Arising From the Olfactory Groove: A Report of an Extremely Rare Case and Review of the Literature.

Cureus
2025

Rare uro-genital manifestations of von Recklinghausen disease: Scrotal, penile, and intrapelvic involvement with bladder and spermatic cord extension: A case report.

Radiology case reports
2025

Massive Plexiform Neurofibroma Involving Multiple Salivary Glands: A Rare Case Report.

Indian journal of otolaryngology and head and neck surgery : official publication of the Association of Otolaryngologists of India
2025

Small Intestinal Neurofibroma With Atypical 17q11.2 Microdeletions: A Rare Cause of Abdominal Distension.

JGH open : an open access journal of gastroenterology and hepatology
Ver todos os 2.514 no EuropePMC

Associações

Organizações que acompanham esta doença — pra ter apoio e orientação

Ainda não temos associações cadastradas para Neurofibroma.

É de uma associação que acompanha esta doença? Fale com a gente →

Vai consultar um especialista? Confirme o registro dele no conselho.
Conselhos e sociedades

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Perguntas frequentes

O que as famílias mais perguntam sobre esta doença — cada resposta com a fonte de onde saiu

Respostas geradas por IA a partir das fontes citadas

É uma neoplasia que se origina a partir de tecidos e bainhas neurais, formada por fibroblastos perineuriais e células de Schwann. Geralmente se apresenta como uma alteração cutânea única ou massa em nervo periférico, com início habitual na vida adulta.

Referências

Fontes citadas no texto, publicações do grafo e bases de dados usadas neste verbete

10 publicações do grafo RarasNet (PubMed) · 5 bases de dados. Títulos, periódicos e PMIDs vêm direto da fonte, sem intermediação de IA.

  1. ORPHA:252183
    Orphanet
  2. GARD:7191
    GARD (NIH)
  3. Q1418735
    Wikidata

Dados compilados pelo RarasNet a partir de fontes abertas (Orphanet, OMIM, MONDO, PubMed/EuropePMC, ClinicalTrials.gov, DATASUS, PCDT/MS). Este conteúdo é informativo e não substitui avaliação médica.

Citar este verbete

Raras. (s.d.). Neurofibroma. Em Raras — Enciclopédia de Doenças Raras do Brasil. https://raras.org/doenca/neurofibroma

Formato APA. Conteúdo sob CC BY 4.0 — reuso livre com atribuição.

Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar

Neurofibroma
Compêndio · Raras BR

Neurofibroma

ORPHA:252183 · MONDO:0016755
CID-10
D36.1 · Neoplasia benigna dos nervos periféricos e sistema nervoso autônomo
CID-11
Ensaios
31 ativos
Início
Adult
MedGen
UMLS
C0027830
EuropePMC
Wikidata
Papers 10a

📋 Origem dos dados

Esta página agrega dados de fontes públicas e oficiais. Dados sobre cobertura no SUS (PCDT, CEAF) são verificados ativamente por agente proativo (ver badge no infobox). Demais dados têm atribuição de fonte + data da última sincronização — clique para abrir o original.

Doença rara (ontologia)
fonte: Orphanet
Identificador unificado
fonte: MONDO
Indexação biomédica
fonte: MeSH (NLM)
Dado público estruturado
fonte: Wikidata
Rara