Doença genética neurocutânea, clinicamente heterogênea, caracterizada por manchas café com leite, nódulos de Lisch na íris, sardas axilares e inguinais e múltiplos neurofibromas.
Introdução
O que você precisa saber de cara
Doença genética neurocutânea, clinicamente heterogênea, caracterizada por manchas café com leite, nódulos de Lisch na íris, sardas axilares e inguinais e múltiplos neurofibromas.
Escala de raridade
<1/50kMuito rara
1/20kRara
1/10kPouco freq.
1/5kIncomum
1/2k
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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
+ 84 sintomas em outras categorias
Características mais comuns
Os sintomas variam de pessoa para pessoa. Abaixo estão as 233 características clínicas mais associadas, ordenadas por frequência.
Linha do tempo da pesquisa
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Genética e causas
O que está alterado no DNA e como passa nas famílias
Genes associados
2 genes identificados com associação a esta condição. Padrão de herança: Autosomal dominant.
Stimulates the GTPase activity of Ras. NF1 shows greater affinity for Ras GAP, but lower specific activity. May be a regulator of Ras activity
NucleusNucleus, nucleolusCell membrane
Neurofibromatosis 1
A disease characterized by patches of skin pigmentation (cafe-au-lait spots), Lisch nodules of the iris, tumors in the peripheral nervous system and fibromatous skin tumors. Individuals with the disorder have increased susceptibility to the development of benign and malignant tumors.
E2-dependent E3 ubiquitin-protein ligase that functions as a RIGI coreceptor in the sensing of viral RNAs in cell cytoplasm and the activation of the antiviral innate immune response (PubMed:19017631, PubMed:19484123, PubMed:21147464, PubMed:23950712, PubMed:28469175, PubMed:31006531). Together with the UBE2D3, UBE2N and UB2V1 E2 ligases, catalyzes the 'Lys-63'-linked polyubiquitination of RIGI oligomerized on viral RNAs, an essential step in the activation of the RIG-I signaling pathway (PubMed
CytoplasmCytoplasm, Stress granule
Medicamentos aprovados (FDA)
2 medicamentos encontrados nos registros da FDA americana.
Variantes genéticas (ClinVar)
7,251 variantes patogênicas registradas no ClinVar.
Classificação de variantes (ClinVar)
Distribuição de 13,834 variantes classificadas pelo ClinVar.
Vias biológicas (Reactome)
10 vias biológicas associadas aos genes desta condição.
Diagnóstico
Os sinais que médicos procuram e os exames que confirmam
Tratamento e manejo
Remédios, cuidados de apoio e o que precisa acompanhar
Onde tratar no SUS
Hospitais de referência no Brasil e o protocolo oficial do SUS (PCDT)
🇧🇷 Atendimento SUS — Neurofibromatose tipo 1
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
Ensaios em destaque
🟢 Recrutando agora
8 pesquisas recrutando participantes. Converse com seu médico sobre a possibilidade de participar.
Outros ensaios clínicos
296 ensaios clínicos encontrados, 17 ativos.
Publicações mais relevantes
Mostrando amostra de 200 publicações de um total de 4.292
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1.
Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder that predisposes affected individuals to benign and malignant tumors throughout their lifetime. Early detection of those lesions is critical for effective management. PET/CT with 18F-fluorodeoxyglucose (18F-FDG) has emerged as a potentially efficient modality for detecting malignant tumors in patients with NF1. The aim of this study was to investigate this hypothesis by assessing the presence of incidental findings of malignant and potentially malignant tumors using 18F-FDG PET/CT in an adult NF1 cohort. In this retrospective observational study, clinical data were collected from medical records, including sex, age, family history, clinical manifestations, and tumor diagnosis. Data on imaging and diagnostic modalities that led to the diagnosis of NF1-related tumors or other malignant and potentially malignant tumors were collected. These modalities included 18F-FDG PET/CT, MRI, CT, mammography, scintigraphy, and pathology reports. A total of 79 adult patients with NF1 were included in this study, comprising 29 male and 50 female patients, all of whom had received an NF1 diagnosis. Of these, 51 patients (64.6%) underwent a 18F-FDG PET/CT scan during their follow-up. A total of 31 malignant or potentially malignant tumors were diagnosed in addition to 2 pheochromocytomas and 24 gliomas. Notably, 18F-FDG PET/CT scans incidentally detected 12 significant findings: 4 gastrointestinal stromal tumors, 3 carcinomas and premalignant tumors of the thyroid gland, 2 malignant peripheral nerve sheath tumors, 1 serous borderline ovarian tumor, 1 testicular seminoma, and 1 pheochromocytoma. Most incidental findings required surgery and could have significantly affected disease management if diagnosed at a later stage. In this cohort of 79 adult patients with NF1, 18F-FDG PET/CT proved as a valuable complementary imaging modality to conventional imaging by enabling the detection of incidental malignant or potentially malignant tumors. Our results highlight 18F-FDG PET/CT's beneficial impact on disease management by suggesting that the incorporation of 18F-FDG PET/CT into screening protocols could improve early detection of NF1-related cancers in asymptomatic adults, potentially offering early treatment options to improve clinical outcomes.
Differences in Optic Pathway Glioma Prevalence among Children with Neurofibromatosis Type 1.
This multi-institutional, natural language processing-based analysis of 273 children with neurofibromatosis 1-associated optic pathway gliomas examines the impact of ancestral background on clinical presentation and progression. We report that White children had higher OPG prevalence than Black or Asian children, but clinical features and outcomes did not differ across groups.
Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.
RASopathies are a group of genetically heterogeneous developmental disorders caused by germline variants affecting the RAS/MAPK signaling pathway. These disorders display overlapping clinical features and diverse molecular mechanisms. This study aimed to evaluate the clinical and molecular spectrum of patients diagnosed with RASopathies, with a particular focus on novel and rare variants. A retrospective, multicenter study was conducted on patients with clinically suspected RASopathy and diagnosed by targeted Next Generation Sequencing analysis between 2021 and 2024. Variants were classified according to ACMG criteria, and clinical data were reviewed for genotype-phenotype correlations. Among 23 patients (14 males, 9 females), 15 (65.2%) had Noonan syndrome, five (21.7%) Neurofibromatosis Type 1, two (8.7%) Cardio-facio-cutaneous syndrome, and one (4.3%) Neurofibromatosis-Noonan syndrome. The most frequent clinical findings were craniofacial dysmorphism (91.3%), musculoskeletal anomalies (82.6%), and cutaneous features (78.3%). A total of 24 heterozygous variants were identified in seven genes: PTPN11 (45.8%), NF1 (25%), LZTR1 (12.5%), and RASA2, SOS1, MAP2K1, and BRAF (each 4.2%). Four novel variants were detected (PTPN11 c.853 + 4A>G, RASA2 p.E71D, NF1 p.W784Mfs*10, MAP2K1 p.A106T). This study highlights the clinical and molecular heterogeneity of RASopathies and expands the variant spectrum with novel and rare pathogenic alterations. The identification of new variants, particularly in rarely implicated genes such as RASA2, underlines the diagnostic value of comprehensive NGS-based testing and the need for individualized, multidisciplinary clinical management.
Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.
Neurofibromatosis type 1 results from mutations in the NF1 gene and its encoded neurofibromin protein. This condition produces multiple symptoms, including tumors, behavioral alterations, and metabolic changes. Molecularly, neurofibromin mutations affect Ras activity, influencing multiple downstream signaling pathways, including MAPK (Raf/MEK/ERK) and PI3K/Akt/mTOR signaling. This pleiotropy raises the question of which pathways could be targeted to treat the disease symptoms, and whether different phenotypes driven by neurofibromin mutations exhibit similar or diverging dependence on the signaling pathways downstream of Ras. To test this, we examined metabolic and behavioral alterations in the genetically tractable Drosophila neurofibromatosis type 1 model. In vivo genetic analysis revealed that behavioral effects of neurofibromin were mediated by MEK signaling, with no necessity for Akt. In contrast, metabolic effects of neurofibromin were mediated by coordinated actions MEK/ERK and Akt/mTOR/S6K/4E-BP signaling. At the systemic level, loss of neurofibromin dysregulated metabolism via molecular effects in interneurons and muscle. These changes were accompanied by altered muscle mitochondria morphology, with no concomitant changes in neuronal ultrastructure or neuronal mitochondria. Overall, this suggests that neurofibromin mutations affect multiple signaling cascades downstream of Ras, which differentially affect metabolic and behavioral neurofibromatosis type 1 phenotypes.
Giant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique.
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.
Publicações recentes
Everyday executive functions in children with neurofibromatosis type 1: Data from nine institutions.
Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.
Choroidal abnormalities: the new hallmark ocular finding in neurofibromatosis type 1.
A rare case of giant paraganglioma in the first porta hepatis area associated with neurofibromatosis type 1.
[Interpretation of the Expert Consensus for Full Course Management of Plexiform Neurofibroma (2025 Edition)].
📚 EuropePMC4.300 artigos no totalmostrando 197
Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1.
Neurology. GeneticsBenign Peripheral Nerve Sheath Tumors: Recurrence Rates and Pain Outcomes Following Excision.
Plastic and reconstructive surgeryFrontotemporal-orbitozygomatic approach for pediatric cranio-orbital tumors: a single-center experience.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryCardiotoxicity of trametinib monotherapy in adults with neurofibromatosis type 1: Results from the TRAIN study.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieDifferences in Optic Pathway Glioma Prevalence among Children with Neurofibromatosis Type 1.
The Journal of pediatricsLumbar Fracture Dislocation in a 14-Year-Old with Dystrophic Scoliosis, Neurofibromatosis Type 1, and a Normal Neurologic Examination: A Case Report.
JBJS case connectorNovel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.
Clinical geneticsBuilding a framework for adolescent and young adult transition of care for patients with neurofibromatosis type 1 and neurofibromatosis type 2-related schwannomatosis syndromes.
Frontiers in oncologyAdult patient and caregiver perspectives on the impact of NF1-PN: Insights from a US qualitative survey.
Neuro-oncology advancesReal-world outcomes for selumetinib in pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas in Japan: A 1-year interim analysis.
Neuro-oncology advancesAorto-Renal Dysplasia in Childhood: The Overlap of Neurofibromatosis Type 1 and Pediatric Renovascular Hypertension.
Current hypertension reportsA rare case report of solitary neurofibroma arising in the male breast.
International journal of surgery case reportsCase Report: Somatic NF2 mutation in a vestibular schwannoma arising in a patient with neurofibromatosis type 1.
Frontiers in oncology[Pheochromocytoma in Neurofibromatosis Type 1].
Problemy endokrinologiiSurgical Outcomes in NF-1-Associated Upper Thoracic Dystrophic Scoliosis: A Retrospective Analysis.
World neurosurgeryTrametinib and Fimepinostat Induce Malignant Peripheral Nerve Sheath Tumor Cell Death In Vitro.
CancersEEG response to hyperventilation in patients with neurofibromatosis type 1 and Moyamoya syndrome: Two case reports.
Neurophysiologie clinique = Clinical neurophysiologyCongenital Upper Extremity Anomalies Misdiagnosed as Ulnar Longitudinal Deficiency.
EplastyMirdametinib in symptomatic neurofibromatosis type 1 plexiform neurofibromas.
Expert review of anticancer therapySurgical treatment of gastrointestinal stromal tumors.
Journal of medicine and lifeGNAQ positive hepatic vascular tumors in a patient with neurofibromatosis type 1: A case report.
JAAD case reportsTranslation and Cultural Adaptation of the PedsQL Neurofibromatosis Module, Version 3.0, Into Brazilian Portuguese.
CureusPatient and caregiver perspectives on neurodevelopmental and mental health care for RASopathies.
Therapeutic advances in rare diseaseHigh-frequency ultrasound in genodermatoses.
Journal of ultrasoundPancreatic Atypical Neurofibromatous Neoplasm with Uncertain Biological Potential (ANNUBP) Mimicking a Solid Pseudopapillary Tumor Pancreatic ANNUBP.
Acta gastroenterologica LatinoamericanaNeurofibromatosis type 1 with unilateral macrodactyly-like overgrowth: a case report.
Case reports in plastic surgery & hand surgeryDisease burden and unmet needs in adults with neurofibromatosis type 1 and plexiform neurofibromas: A systematic literature review.
Neuro-oncology advancesPediatric high-grade gliomas in patients with neurofibromatosis type 1-A collaborative cohort study from the SIOPE HGG/DIPG working group.
Neuro-oncology practiceNeurogenetic tumor syndromes: The current landscape of workup and treatment.
Neuro-oncology practicePatient and caregiver experiences with selumetinib for the treatment of pediatric patients with neurofibromatosis type 1 and plexiform neurofibromas.
Neuro-oncology practiceRare Association Between Neurofibromatosis Type 1 and Adrenocortical Carcinoma.
Clinical case reportsExcessive intraoperative hemorrhage during orthognathic surgery in a patient with neurofibromatosis type 1: a case report and literature review.
Oral and maxillofacial surgeryPrecision restoration of complex cervical instability and decompression for neurofibromatosis type I: a case report using patient-specific 3D-printed templates.
Frontiers in surgeryIsolated Anterior Mesenteric Neurofibroma: A Rare Manifestation of Neurofibromatosis Type 1.
CureusTibial lengthening in congenital pseudoarthrosis of the tibia: a scoping review.
BMC musculoskeletal disordersMetabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.
PLoS geneticsPTPN11-related Noonan syndrome predisposes to multifocal low-grade CNS tumors harboring FGFR1 variants.
Journal of neuro-oncologyGiant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique.
Surgical neurology internationalBreathless and Beyond: Anterior Mediastinal Malignant Peripheral Nerve Sheath Tumor as a Rare Neurofibromatosis Type 1 Manifestation.
Clinical case reportsRetinal and Choroidal Changes in Neurofibromatosis Type 1 in Relation to Diagnostic Criteria and Disease Severity.
Current eye researchOssification of Mandibular Central Giant Cell Granuloma (CGCG) in Neurofibromatosis Type 1 Patients.
Cancer diagnosis & prognosisA 17-Year-Old Male Adolescent With a Giant Isolated Scalp Neurofibroma Associated With a Calvarial Defect: A Case Report.
The American journal of case reportsIFN signaling at the nexus of the radiotherapy response in malignant peripheral nerve sheath tumors.
The Journal of clinical investigationNeurofibromatosis type 1 with concomitant Peutz-Jeghers syndrome in a child: a case report.
BMC pediatricsClinical Outcomes Following Surgical Resection for Patients With Malignant Peripheral Nerve Sheath Tumors.
NeurosurgeryDuodenal ampullary neuroendocrine tumor, high risk gastrointestinal stromal tumor, and gastric leiomyoma in a patient with neurofibromatosis type 1: a rare case report and literature review.
Frontiers in oncologyA Systematic Review and Meta-Analysis of Executive Function Outcomes in Pediatric Central Nervous System Tumor Survivors.
Actas espanolas de psiquiatriaNeurovascular Issues in Neurofibromatosis Type I: Focus on Intracranial Stenosis.
Life (Basel, Switzerland)Cystic lung diseases in the daily routine: a comprehensive step-wise algorithm for the radiological diagnosis of cystic lung lesions and diffuse cystic lung diseases.
RoFo : Fortschritte auf dem Gebiete der Rontgenstrahlen und der NuklearmedizinBilateral pheochromocytoma as a late presentation of neurofibromatosis type 1.
Endocrinology, diabetes & metabolism case reportsPharmacodynamics, Efficacy, and Safety of Intraputaminal Eladocagene Exuparvovec Administered to Pediatric Patients With Aromatic L-Amino Acid Decarboxylase Deficiency Using an MR-Compatible Cannula: 48 Weeks of Follow-Up.
Journal of inherited metabolic diseaseAmpullary Mixed Adenoma and Well-Differentiated Neuroendocrine Tumor (MANET) with Aberrant Beta-Catenin Expression in a Patient with Neurofibromatosis Type 1.
Endocrine pathologyUnusual Presentation of Plexiform Neurofibroma Embedded with Large Comedones: A Case Report.
Case reports in dermatologyHigh-Yield DNA-Based Neurofibromatosis Type 1 Diagnostics Reveal Population-Specific Mutation Landscape in 1917 Koreans.
The Journal of molecular diagnostics : JMDRetinal Astrocytic Hamartoma in a Child With Neurofibromatosis Type 1 Treated With Selumetinib.
PediatricsCerebrovascular Malformations Associated With Hereditary Hemorrhagic Telangiectasia and HHT-Like Syndromes: A Comparative Overview.
European journal of neurologyCancer predisposition syndromes: an imaging review.
Cancer imaging : the official publication of the International Cancer Imaging SocietyEnd of a diagnostic odyssey: the added value of multi-tissue analysis in the identification of mosaicism in tumour predisposition syndromes.
Journal of medical geneticsIntelligence Over Time in Children with Neurofibromatosis Type 1 Based on a Structured Natural History-Study.
Journal of child neurologySingle-stage posterior surgical management of grade 5 L5 spondylolisthesis in a patient with neurofibromatosis type 1 and dural meningocele: illustrative case.
Journal of neurosurgery. Case lessonsOutcomes of Surgical Intervention of Dystrophic Cervical Kyphosis in Patients with Neurofibromatosis Type 1: A Systematic Review.
Spine surgery and related researchCongenital pseudarthrosis of the proximal tibia: a case report.
Frontiers in pediatricsNordic Society of Paediatric Haematology and Oncology (NOPHO) Radiotherapy Working Group consensus guidelines on radiotherapy for paediatric low-grade gliomas.
Acta oncologica (Stockholm, Sweden)Oral findings and oral health-related quality of life in children with neurofibromatosis type 1: a case-control study.
BMC oral healthFrom 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)Neurofibromin 1 (NF1) Splicing Mutation c.61-2A>G: From Aberrant mRNA Processing to Therapeutic Implications In Silico.
International journal of molecular sciencesAge-Specific ADHD and Internalizing/Externalizing Comorbidity in Children with Neurofibromatosis Type 1: A Multi-Site Study.
CancersDiagnosis, treatment management, and challenges in neurofibromatosis type 1: a case report with mixed features.
Annals of medicine and surgery (2012)Laryngeal neurofibroma: case report and review of the literature.
Frontiers in oncologyEfficacy 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 ResearchSleep-Wake Dysregulation and Altered Melatonin in Neurofibromatosis Type 1.
SleepImpaired 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 reportsUnilateral Yasunari Nodule-Like Appearance in a Patient Without Neurofibromatosis Type 1.
European journal of case reports in internal medicineA Multi-parametric MRI and Machine Learning Study of Cerebellar Structure in Youth with Neurofibromatosis Type 1.
Cerebellum (London, England)Molecular convergence enables precision medicine for pediatric low grade gliomas.
Discover oncologyHepatic plexiform neurofibroma a rare manifestation of neurofibromatosis type 1: A case report and literature review.
Radiology case reportsEarly onset scoliosis in syndromic and neuromuscular disorders: A multidisciplinary approach.
Journal of clinical orthopaedics and traumaSciatic Schwannoma in a Patient with Neurofibromatosis Type 1: A Report of a Minimally Invasive Surgical Technique and Review of the Literature.
CureusDiffusely enlarged extraocular muscles in an infant with neurofibromatosis type 1.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusNeurofibromatosis type 1 plexiform neurofibromas: Integrating treatment across pediatric and adult populations.
Neuro-oncologyBreast cancer risk in women with neurofibromatosis type 1: a register-based cohort study from Denmark and Sweden.
Breast (Edinburgh, Scotland)Phenotypic Spectrum of Neurofibromatosis Type 1 Patients in India and Low Prevalence of Microdeletions in NF1 Gene.
American journal of medical genetics. Part A[Neurofibromatosis 1-related tumors in pediatric patients].
Problemy endokrinologiiPersonalized medicine strategy for MPNSTs: using precision oncology on PDOX models to inform tumor boards.
Journal of translational medicineUtilizing optical coherence tomography and machine learning to identify vision abnormalities in pediatric neurofibromatosis type 1 patients.
Scientific reportsBladder Fetal Rhabdomyoma Coexisting with Neurofibromatosis Type 1: A Differential Diagnostic Challenge.
Indian journal of pediatricsNeurofibromatosis type I -related severe aplastic anemia: an unusual association with a complicated bone marrow transplantation course.
Annals of hematologyDisrupted Frontoparietal Dynamics in Neurofibromatosis Type 1: Reduced Sensitivity and Atypical Modulation During Working Memory.
Human brain mappingVariant Resolution Through RNA Testing and Affected Tissue Analysis in the Neurofibromatoses: A Case Series.
Neurology. GeneticsSmall bowel obstruction from jejunal gastrointestinal stromal tumour in a young adult with neurofibromatosis type 10: a case report.
Journal of surgical case reportsSafe cystoperitoneal shunting of thoracic meningocele in a patient with neurofibromatosis type 1.
Surgical neurology internationalInternal carotid artery sympathetic plexus neurofibroma - A case report.
Surgical neurology internationalPlexiform Neurofibroma of the Vulva in a Patient With Neurofibromatosis Type 1.
CureusNon-invasive screening in hereditary cancer: a randomized controlled trial to test cell-free DNA-based early detection in the CHARM consortium.
European journal of human genetics : EJHGCutting Balloon Angioplasty for Resistant Pediatric Renal Artery Stenosis: A Single Institutional Experience.
Journal of vascular and interventional radiology : JVIRCorneal confocal microscopy as a paraclinical test in neurodegenerative disease: a scoping review.
The British journal of ophthalmologyPerspectives of Patients and Providers on Chronic Pain Assessment in Neurofibromatosis Type 1 (NF1): A Qualitative Study.
CureusDermoscopy-Guided High-Frequency Ultrasound Imaging of Subcentimeter Cutaneous and Subcutaneous Neurofibromas in Patients with Neurofibromatosis Type 1.
Journal of clinical medicineSmall Bowel Gastrointestinal Stromal Tumors: A 15-Year Cohort Study Focusing on Jejuno-Ileal Site-Specific Outcomes and Prognostic Factors.
CancersCaffeine May Delay the Radiation-Induced Nucleoshuttling of the ATM Kinase and Reduce the Recognition of the DNA Double-Strand Breaks in Human Cells.
BiomoleculesPharmacokinetics 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 OncologyFAP expression as a marker of malignant transformation enabling in vivo characterization in peripheral nerve sheath tumors: a multimodal and translational study.
Acta neuropathologicaMetachronous Pheochromocytoma and Cholangiocarcinoma in a patient with Neurofibromatosis type 1: a case report.
Oxford medical case reportsHealthcare utilization patterns and costs related to neurofibromatosis 1 in Ontario, Canada.
Orphanet journal of rare diseasesSubsequent primary and secondary neoplasms in childhood cancer survivors.
Polish journal of radiologyInhibition of Cxcr4 chemokine receptor signaling improves habituation learning in a zebrafish model of neurofibromatosis.
Disease models & mechanismsHMGB1 affects the progression of neurofibromatosis type 1-associated malignant peripheral nerve sheath tumors through E2F2.
Cancer cell internationalClinical and Humanistic Burden Among Adults with Neurofibromatosis Type 1 and Symptomatic Plexiform Neurofibroma in the United States.
Neurology and therapy[A man with axillary and inguinal freckling, café-au-lait spots, and cutaneous nodules].
Nederlands tijdschrift voor geneeskundeOutcomes following definitive treatment of malignant peripheral nerve sheath tumor are significantly worse for patients with neurofibromatosis type 1: A Canadian Sarcoma Research and Clinical Collaboration study.
Cancer(Not) "just your nature". Diagnostic journeys of adults with neurofibromatosis type 1 in Poland.
Frontiers in geneticsImmortalization and characterization of Schwann cell lines derived from NF1-associated cutaneous neurofibromas.
PloS oneSurgical treatment for neurofibromatosis type 1-related dystrophic scoliosis in children aged 8 to 11: traditional growing rod or posterior spinal fusion?
BMC surgeryAsthma-mediated control of optic glioma growth via T cell-microglia interactions: A mathematical model.
NPJ systems biology and applicationsUnraveling cardiac anomalies in pediatric neurofibromatosis type 1: insights and implications.
European journal of pediatricsNeurofibromatosis Type 1 in Ecuador: genotype-phenotype correlations from a case series.
MedwaveMicroenvironmental TGF-β is an early driver of NF1-associated tumor formation.
Cell reportsGenetic tumor syndromes in female cancer: insights into inherited cancer predisposition and clinical implications.
Archives of gynecology and obstetricsPrevalence and management of lower limb segmental overgrowth in patients with NF1: an observational study.
Orphanet journal of rare diseasesRetroperitoneal malignant peripheral nerve sheath tumor in a patient with neurofibromatosis type 1: a case report.
BMC surgeryPulmonary Hypertension in Rare Disease Overlap: Neurofibromatosis Type 1 Meets Sarcoidosis.
CureusRadiologic Approach to Cystic Lung Diseases: From Cyst Definition to Diagnosis.
Seminars in roentgenologyTips and Pitfalls of Surgical Techniques for Scoliotic Deformities in Neurofibromatosis Type 1.
Journal of clinical medicineNF1 with Multiple Cardiac Structural Abnormalities Leading to Cerebral Infarction.
Diagnostics (Basel, Switzerland)Breast cancer in a male with neurofibromatosis type 1.
Medicina clinicaSARC031: A Phase II Trial of Selumetinib and Sirolimus for Patients with Unresectable or Metastatic Malignant Peripheral Nerve Sheath Tumors (MPNST).
Clinical cancer research : an official journal of the American Association for Cancer ResearchAsk and you will find: the importance of measuring stigma due to cutaneous neurofibromas in neurofibromatosis type 1.
The British journal of dermatologyChoroidal abnormalities in neurofibromatosis type 1.
Eye (London, England)Head-to-head preclinical treatment design prioritizes promising therapies for neurofibromatosis type 1 optic glioma clinical translation.
Neuro-oncology advancesMolecular and Clinical Profiles of Patients with RASopathies: Targeted Next-Generation Sequencing Panel Results and Identification of 14 Novel Disease-Causing Variants.
Molecular syndromologyMidkine as a therapeutic node in NF1-driven neuro‑oncology: Biology, biomarkers, and translational strategies.
Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapieSimultaneous reprogramming and gene correction to generate six iPSC lines and isogenic controls from individuals with neurofibromatosis type 1.
Stem cell researchAn intercostal artery aneurysm rupture in a patient with neurofibromatosis type 1-associated gastrointestinal stromal tumor during sunitinib therapy.
Clinical journal of gastroenterologyLong-term Stable Unilateral Mandibular Deformity Associated With Ipsilateral Skull-base Soft-tissue Lesion and Degenerated Pterygoid Muscles in Neurofibromatosis Type 1.
Cancer diagnosis & prognosisTrapped in Silence: Severe Catatonia From Anti-N-Methyl-D-Aspartate (NMDA) Receptor Encephalitis in a Neurofibromatosis Type 1 Patient With Craniopharyngioma.
CureusWhen the Skin Tells a Pulmonary Story: A Case of Neurofibromatosis Type 1-Associated Pulmonary Hypertension.
CureusAdjuvant Radiation Therapy in Breast Cancer Patients With Neurofibromatosis Type 1: Safety and Long-Term Outcomes.
Advances in radiation oncology[Von Recklinghausen's disease revealed by a thoracic mass and pulmonary cystic lesions].
The Pan African medical journalTargeted therapies in optic pathway gliomas.
Cancer treatment reviewsMalignant peripheral nerve sheath tumors in neurofibromatosis type 1 arise from distinct nodular lesions: A retrospective imaging analysis.
Neuro-oncology advancesNF1-Specific Growth Charts for Head Circumference Over the First 3 Years of Life.
NeurologyHigh-Resolution Nerve Ultrasound in Adults with NF1: An Accessible and Reproducible Imaging Tool for Plexiform Neurofibromas.
Diagnostics (Basel, Switzerland)The Pathogenesis of the Neurofibroma-to-Sarcoma Transition in Neurofibromatosis Type I: From Molecular Profiles to Diagnostic Applications.
CancersFrequency and face validity of reported family history of cancer in first-degree relatives and genetic syndromes among children with cancer in Project:EveryChild: A report from the Children's Oncology Group.
CancerMOIS-SAM2: Exemplar-based segment anything model 2 for multi-lesion interactive segmentation of neurofibromas in whole-body MRI.
Computers in biology and medicineConcurrent Juvenile Myelomonocytic Leukemia and Gliomas in Patients With Neurofibromatosis Type 1.
Pediatric blood & cancerGenetic activation of ERK2 recapitulates core neurodevelopmental features of Rasopathy syndromes in mice.
bioRxiv : the preprint server for biologyNon-Syndromic Ganglioneuromatosis of the Gallbladder, an Extremely Rare Condition: Case Report and Literature Review.
Reports (MDPI)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.)Incidence of Bevacizumab-Associated Toxicity in Children With Low-Grade Glioma With and Without Neurofibromatosis Type 1.
Pediatric blood & cancerPost-strabismus surgery endophthalmitis without evident scleral perforation due to Haemophilus influenzae in a pediatric patient with neurofibromatosis type 1.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusClinical significance of thalamic FASI finding in neurofibromatosis type 1: Deepening the cognitive relevance with advanced approaches.
Clinical neurology and neurosurgeryThe first year of treatment with selumetinib for NF1-related plexiform neurofibroma is medically challenging in real-life settings.
Annales de dermatologie et de venereologiePERADIGM: Phenotype embedding similarity-based rare disease gene mapping.
PLoS geneticsPathological and Immunohistochemical Features of Malignant Peripheral Nerve Sheath Tumor With Heterologous Rhabdomy Oblastic Differentiation (Malignant Triton Tumor) in the Context of the Malignant Peripheral Nerve Sheath Tumor Spectrum.
International journal of surgical pathologyPhenotypic characterization of neurofibromatosis type 1 in a large Chinese cohort: A cross-sectional study.
JAAD internationalProtein domain-specific genotype-phenotype correlation study of neurofibromatosis type 1.
Scientific reportsPharmacological inhibition of RAS pathway alleviates spine deformity in a mouse model of neurofibromatosis type 1.
Bone research[Malignant peripheral nerve sheath tumor presenting with Pancoast syndrome in a patient with neurofibromatosis type 1].
Rinsho shinkeigaku = Clinical neurologyClinical benefits of selumetinib in adults with neurofibromatosis type 1 - Authors' reply.
Lancet (London, England)Clinical benefits of selumetinib in adults with neurofibromatosis type 1.
Lancet (London, England)Malignant peripheral nerve sheath tumors: a report from children's oncology group study ARST0332.
Journal of the National Cancer InstituteNeurofibromatosis Type 1: Genetic Mechanisms and Advances in Therapeutic Innovation.
CancersChallenges and Progress for Treatment of Malignant Peripheral Nerve Sheath Tumors in the Context of Recent Successes for Sarcoma Therapy.
CancersGenetic characterization of a Chinese cohort of suspected pediatric NF1 patients: a large-scale study using optimized whole-exome sequencing.
Journal of human geneticsFatal Triad of Subarachnoid Hemorrhage, Cervical Hematoma, and Upper Airway Obstruction in a Patient With Neurofibromatosis Type 1: A Case Report.
Critical care explorationsRuptured giant lateral thoracic meningocele associated with intracranial hypotension syndrome in neurofibromatosis type 1: case report with long-term follow-up.
Frontiers in oncologyAn Episcleral Lesion in a Patient With Neurofibromatosis Type 1.
Ophthalmic plastic and reconstructive surgeryExploring Optic Glioma and Type 1 Neurofibromatosis: A Literature Review of Case Reports.
Neuro-ophthalmology (Aeolus Press)Coexistence of ulcerative colitis and neurofibromatosis type 1: a case report and literature review.
Frontiers in medicineAttention skills, learning and academic abilities in children and adolescents with genetic disorders: a systematic review.
Frontiers in psychologyThe Efficacy of the iCanCope Mobile Application for Neurofibromatosis Type 1 (NF1): A Three-Arm Randomized Controlled Trial.
American journal of medical genetics. Part ANeurodevelopmental and Psychiatric Studies in Children and Adolescents With Neurofibromatosis Type I: A Comprehensive Scoping Review.
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric GeneticsDiagnostic challenges of the neurofibroma-malignant peripheral nerve sheath tumor spectrum in neurofibromatosis type 1: illustrative case.
Journal of neurosurgery. Case lessonsOptic Nerve Glioma, Plexiform Neurofibroma, and Secondary Glaucoma in a Child With a Rare NF1 Variant (p.Gln83Ter): A Case Report.
CureusBibliometric Analysis of Global Research on Cafe-Au-Lait Macules from 2000 to 2025: Development, Collaboration Patterns, and Emerging Trends.
Clinical, cosmetic and investigational dermatology[Ganglioneuroma of the Small Intestine Mimicking Crohn's Disease].
Acta gastroenterologica LatinoamericanaFamily Functioning, Anxiety, and Depressive Symptoms and Their Impact on Quality of Life in Children With Neurofibromatosis Type 1.
Journal of child neurologyMalignant Peripheral Nerve Sheath Tumor Arising After Superficial Neurofibroma Excision: A Rare Sporadic Case in a Patient Without Neurofibromatosis Type 1.
CureusNeurofibromatosis type 1-associated tumors in children.
The Turkish journal of pediatricsRadiological insights into orbital and periorbital plexiform neurofibromas in children with neurofibromatosis type 1.
Radiology case reportsCracking under pressure: Cognitive load influences performance in youth with NF1.
Journal of the International Neuropsychological Society : JINSNeurofibromatosis review with focus on rehabilitation intervention.
Current problems in pediatric and adolescent health careRECQL4 alterations in gliomas and nerve sheath tumors: Expression patterns and therapeutic implications.
Journal of neuropathology and experimental neurologyQuantitative assessment of the corneal subbasal nerve plexus in children with neurofibromatosis type 1 and optic pathway glioma using in vivo confocal microscopy.
Scientific reportsPrevalence of optic pathway glioma in NF1: a systematic review and meta-analysis focused on MRI surveillance.
Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and StrabismusAcademic Achievement of Children and Adolescents with Neurofibromatosis Type 1: A Systematic Review and Meta-Analysis.
Neuropsychology reviewHigh Allelic Heterogeneity in Kazakhstani Patients with Neurofibromatosis Type 1: Results from the First Molecular Study.
GenesClinical characteristics and healthcare burden of neurofibromatosis type 1 in Saudi Arabia: a single centre experience.
Hereditary cancer in clinical practiceNeurofibromatosis Type 1 and the Search for Effective Tumor Therapies Using High-Throughput Drug Screening.
Current oncology (Toronto, Ont.)Retrospective Analysis of Pediatric Optic Pathway Gliomas: Impact of NF1 Status on Visual and Structural Outcomes.
American journal of ophthalmologyStigmatization related to cutaneous neurofibromas in neurofibromatosis 1: development, validation and severity strata of the cNF-PUSH-D.
The British journal of dermatologyConservative Management of Spontaneous Posterior Mediastinal Intercostal Artery Hemorrhage: A Case Report and Literature Review.
The Journal of emergency medicinePreimplantation genetic testing for neurofibromatosis type 1: molecular genetic aspects and impact on reproductive counseling.
Human reproduction (Oxford, England)[Identification of two novel NF1 mutations and genotype-phenotype analysis in patients with neurofibromatosis type 1].
Zhonghua yu fang yi xue za zhi [Chinese journal of preventive medicine]Genotype-first assessment of presentation and penetrance of neurofibromatosis type 1, autosomal dominant polycystic kidney disease, and Marfan syndrome within the All of Us research program cohort.
Genetics in medicine : official journal of the American College of Medical GeneticsClinical challenges of cancer predisposition syndromes with pediatric central nervous system tumors: a single-center study.
Child's nervous system : ChNS : official journal of the International Society for Pediatric NeurosurgeryAssociações
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Referências e fontes
Bases de dados externas citadas neste artigo
Publicações científicas
Artigos indexados no PubMed ligados a esta doença no grafo RarasNet — título, periódico e PMID direto da fonte, sem intermediação de IA.
- Utility of 18F-FDG PET/CT in the Surveillance of Patients With Neurofibromatosis Type 1.
- Differences in Optic Pathway Glioma Prevalence among Children with Neurofibromatosis Type 1.
- Novel Variants in PTPN11, NF1, RASA2, and MAP2K1: Expanding the Molecular Spectrum of RASopathies in a Turkish Cohort.
- Metabolic and behavioral effects of neurofibromin result from differential recruitment of MAPK and mTOR signaling.
- Giant malignant peripheral nerve sheath tumor: Illustrative case and surgical technique.
- Everyday executive functions in children with neurofibromatosis type 1: Data from nine institutions.
- Genetic and non-genetic factors influencing phenotypic variability in neurofibromatosis type 1.
- Choroidal abnormalities: the new hallmark ocular finding in neurofibromatosis type 1.
- A rare case of giant paraganglioma in the first porta hepatis area associated with neurofibromatosis type 1.
- [Interpretation of the Expert Consensus for Full Course Management of Plexiform Neurofibroma (2025 Edition)].
Bases de dados e fontes oficiais
Identificadores e referências canônicas usadas para montar este verbete.
- ORPHA:636(Orphanet)
- OMIM OMIM:162200(OMIM)
- MONDO:0018975(MONDO)
- GARD:7866(GARD (NIH))
- Variantes catalogadas(ClinVar)
- Busca completa no PubMed(PubMed)
- Artigo Wikipedia(Wikipedia)
- Q847605(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.
Conteúdo mantido por Agente Raras · Médicos e pesquisadores podem colaborar
