Neurofibroma

Cyclin-Dependent Kinase (CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type I (NF1) Related Atypical Neurofibromas

Fase II

NCT04750928

Natural History Study of Patients With Neurofibromatosis Type 2

Sem fase

NCT00598351

Prevalence, Clinical Characteristics, Progression, and Management of Neurofibromatosis Type 1 in Egypt (NF1-Egy)

Sem fase

NCT07221331

A Phase I/II Study of Trametinib and Azacitidine for Patients With Newly Diagnosed Juvenile Myelomonocytic Leukemia

Fase II

NCT05849662

NCT02390752 · Phase I Trial of TURALIO(R) (Pexidartinib, PLX3397) in Child…Recrutando

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PHASE1

NCT04750928 · Cyclin-Dependent Kinase (CDK)4/6 Inhibitor Abemaciclib for N…Recrutando

NCT00598351 · Natural History Study of Patients With Neurofibromatosis Typ…Recrutando

NCT07221331 · Prevalence, Clinical Characteristics, Progression, and Manag…Recrutando

NCT05849662 · A Phase I/II Study of Trametinib and Azacitidine for Patient…Recrutando

NCT06159166 · Mirdametinib Monotherapy in Adults With Neurofibromatosis 1 …Recrutando

NCT06880991 · Development of Patient-Reported Outcome Measures Assessing T…Recrutando

NCT06507748 · A Study to Evaluate the Feasibility of a Physiologic Biomark…Recrutando

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NCT07298083 · DoD Award NF230020 Identification of Metabolic Markers and S…Recrutando

NCT02544022 · Development and Validation of Patient Reported Outcome (PRO)…Recrutando

NCT07407803 · Evaluation of TQ-B3234 Capsules in Patients With Symptomatic…Recrutando

PHASE3

NCT05735717 · MT2021-08T Cell Receptor Alpha/Beta Depletion PBSC Transplan…Recrutando

PHASE2

NCT06360406 · Real-World Treatment Study of Koselugo (Selumetinib)Recrutando

NCT07088991 · Clinical and Demographic Characteristics of Adult p Atients …Recrutando

NCT06541847 · A Phase 2, Open-Label Study to Evaluate the Safety and Effec…Recrutando

PHASE2

NCT06188741 · Selumetinib for the Prevention of Plexiform Neurofibroma Gro…Recrutando

PHASE2

NCT07233408 · Tailoring an Online Platform to Promote Evidence-Based Care …Recrutando

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NCT06104488 · A Study of Avutometinib for People With Solid Tumor CancersRecrutando

PHASE1

Outros ensaios clínicos

339 ensaios clínicos encontrados, 31 ativos.

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Ver todos no ClinicalTrials.gov

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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

Differentiation of MPNSTs from benign neurofibromas in neurofibromatosis patients using ADC and SUV biomarkers in children and young adults.

Curr Probl Diagn Radiol2026 Apr 8

[Interpretation of the Expert Consensus for Full Course Management of Plexiform Neurofibroma (2025 Edition)].

Zhongguo Xiu Fu Chong Jian Wai Ke Za Zhi2026 Apr 15

Case Report: Appendiceal neurofibroma associated with neurofibromatosis type 1: a rare case and systematic review of the literature.

Front Surg2026

Near-Bloodless Resection of a Giant Hypervascular NF1-Associated Malignant Peripheral Nerve Sheath Tumor Using Dual-Modality Preoperative Embolization.

Int J Dermatol2026 Apr 12

Challenges with Neural Anomalies in Hypoglossal Nerve Stimulator Implantation.

Ann Otol Rhinol Laryngol2026 Apr 6

Ver todas no PubMed

📚 EuropePMC2.514 artigos no totalmostrando 197

Plastic and reconstructive surgery

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

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

Brain & spine

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

Neurocirugia

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

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

International journal of surgery case reports

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

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

Diagnostics (Basel, Switzerland)

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

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

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

Journal of ultrasound

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

Expert review of anticancer therapy

Mirdametinib in symptomatic neurofibromatosis type 1 plexiform neurofibromas.

Case Report: Parapharyngeal Leiomyosarcoma Mimicking Neurofibroma.

Clinical case reports

Case reports in plastic surgery & hand surgery

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

Pathologie (Heidelberg, Germany)

[Immunohistochemistry of melanocytic tumours].

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

Frontiers in surgery

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

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

The American journal of case reports

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

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

Case reports in dermatology

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

Case reports in dentistry

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.

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

Communications biology

Annals of medicine and surgery (2012)

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

Laryngeal neurofibroma: case report and review of the literature.

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

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

Journal of orthopaedic case reports

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

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

bioRxiv : the preprint server for biology

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

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

[Neurofibromatosis 1-related tumors in pediatric patients].

Problemy endokrinologii

A rare case of plexiform neurofibroma.

Internal carotid artery sympathetic plexus neurofibroma - A case report.

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

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

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

Journal of clinical medicine

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

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

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

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

Acta neuropathologica

Cancer cell international

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

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

Neurology and therapy

The Korean journal of gastroenterology = Taehan Sohwagi Hakhoe chi

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

Genes, chromosomes & cancer

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

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

PloS one

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

Medwave

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

Cell reports

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

Orphanet journal of rare diseases

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

Pakistan journal of medical sciences

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

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

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

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

Cancers

Computers in biology and medicine

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

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

[Detection of neurofibroma combining radiomics and ensemble learning].

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

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

Oncoscience

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

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

The Journal of craniofacial surgery

A Solitary Giant Neurofibroma of the Left Chest.

Annales de dermatologie et de venereologie

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

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

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

JAAD international

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

Pediatric neurology

Annals of medicine and surgery (2012)

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

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

Acta neurochirurgica

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

Clinical genetics

Ophthalmic plastic and reconstructive surgery

An Episcleral Lesion in a Patient With Neurofibromatosis Type 1.

Journal of neurosurgery. Case lessons

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

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

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

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

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

BMC neurology

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

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

CPT: pharmacometrics & systems pharmacology

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

Current problems in pediatric and adolescent health care

Neurofibromatosis review with focus on rehabilitation intervention.

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

Genes

The British journal of dermatology

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

Journal of dentistry (Shiraz, Iran)

Pacinian Neurofibroma of Oral Cavity: A Rare Neurogenic Tumor.

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

Familial cancer

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

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

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

Journal of neurosurgery

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

Clinical case reports

Neurofibroma of the Posterior Ankle: A Case Report.

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

Applied immunohistochemistry & molecular morphology : AIMM

Effect of Different Melanin-bleaching Methods on Staining.

Virchows Archiv : an international journal of pathology

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

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

Journal of visualized experiments : JoVE

An Orthotopic Sciatic Nerve Xenograft for Neurofibromatosis Type 1 Neurofibromas.

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

Targeted oncology

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

Pediatric neurology

The American journal of case reports

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

Pain medicine case reports

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

Dermatopathology (Basel, Switzerland)

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

Oral and maxillofacial surgery

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

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

Cancer chemotherapy and pharmacology

Mirdametinib: FDA approved MEK inhibitor for neurofibromatosis type 1.

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

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

Human genetics

The Journal of clinical investigation

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

Journal of orthopaedic case reports

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

Giant retroperitoneal solitary neurofibroma.

BMJ case reports

Journal of the American Academy of Dermatology

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

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

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

International journal of clinical pediatric dentistry

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

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

The skull base in NF1 phenotypes on lateral cephalograms.

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

Medicine

Journal of cancer research and therapeutics

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

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

Reports (MDPI)

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

Skin therapy letter

Dermatology online journal

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

Dendritic Cell Neurofibroma With Pseudorosettes: A Case Report.

Orbit (Amsterdam, Netherlands)

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

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

Targeted Therapies in Neurofibromatosis Type 1.

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

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

Expert opinion on investigational drugs

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

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

JBJS case connector

Nederlands tijdschrift voor geneeskunde

[Single digit nail clubbing].

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.

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

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

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

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

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

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

Journal of neurosurgery. Case lessons

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

American journal of medical genetics. Part A

Sacroiliac Joint Involvement: An Underreported Complication of NF1.

'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

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

Cells

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

Asian journal of neurosurgery

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

Journal of the Formosan Medical Association = Taiwan yi zhi

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

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

Annals of neurology

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

The Bulletin of Tokyo Dental College

Solitary Neurofibroma in Lower Lip - A Case Report.

Journal of neuro-oncology

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

Ophthalmic plastic and reconstructive surgery

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

The American Journal of dermatopathology

The Morphologic Spectrum of NF Mutated Desmoplastic Melanocytic Neoplasms.

Journal of medical genetics

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

Plastic and reconstructive surgery. Global open

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

Luvometinib: First Approval.

Drugs

The American journal of surgical pathology

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

Pharmaceuticals (Basel, Switzerland)

Selumetinib in Adult Neurofibromatosis 1 with Plexiform Neurofibroma.

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

Digestive diseases and sciences

Neurofibroma of Cecum with Ileocecal Granuloma.

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

Reports (MDPI)

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

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

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

BMC urology

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

BMC women's health

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

BMJ case reports

Acta neuropathologica communications

Unraveling the development of cutaneous neurofibromas in neurofibromatosis type 1.

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

Pediatric dermatology

Excision of an Unexpected Retroperitoneal Mass at Laparoscopy.

Acta dermatovenerologica Croatica : ADC

2024

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

Case reports in dentistry

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

Journal of health psychology

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

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

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

Science progress

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

BMJ case reports

Plastic and reconstructive surgery. Global open

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

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

Research square

Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

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

Plexiform Schwannoma of the Foot: A Case Report.

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

Genes

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

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

The Journal of the Association of Physicians of India

Brown Tumor of Hyperparathyroidism Presenting as Mandibular Mass.

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

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

Science advances

Internal medicine (Tokyo, Japan)

Plexiform Neurofibroma Incidentally Detected by Chest X-ray.

JID innovations : skin science from molecules to population health

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

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

Brain circulation

Pediatrics and neonatology

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

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

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

Plexiform Neurofibroma Versus Parotid Tumour - A Challenge in Management.

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

Gene therapy

Neurogastroenterology and motility

Enteric Neuromuscular Manifestations in Neurofibromatosis Type I.

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

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

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)

Current oncology (Toronto, Ont.)

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

Mirdametinib: First Approval.

Drugs

Journal of the American Academy of Dermatology

Dermatology images: Frequent cutaneous findings in neurofibromatosis type 1.

Plastic and reconstructive surgery. Global open

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

Indian dermatology online journal

Intraneural Neurofibroma.

British journal of cancer

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

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

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

Neurosurgical focus: Video

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

Cavernous malformation in the lumbar nerve rootlet.

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

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

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

Journal of Korean Neurosurgical Society

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

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

Clinical neuropathology

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

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

Digestive diseases and sciences

Endoscopic Ultrasonography Helps to Identify Benign Biliary Neurofibroma.

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

Journal of patient-reported outcomes

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.

Operative neurosurgery (Hagerstown, Md.)

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

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

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

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

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

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

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

JGH open : an open access journal of gastroenterology and hepatology

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

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Próxima:Doenças relacionadas

Doenças relacionadas

Doenças com sintomas parecidos — ajudam quem ainda está buscando diagnóstico

Ordenadas pelo número de sintomas em comum.

Tumor benigno da bainha dos nervos periféricos

28 em comum

ORPHA:252131

Tumor dos nervos cranianos e espinhais

28 em comum

ORPHA:252057

Glioma

28 em comum

ORPHA:182067

Síndrome de microdeleção 17q11

6 em comum

ORPHA:97685

Síndrome de sobrecrescimento-macrocefalia-dismorfia facial

6 em comum

ORPHA:137634

Síndrome Gorlin

5 em comum

ORPHA:377

Síndrome do hamartoma PTEN

5 em comum

ORPHA:306498

Síndrome Proteus

Condrodisplasia FGFR3-relacionada

ORPHA:744

ORPHA:93420

Schwannoma benigno

Neurofibromatose tipo 1 por mutação ou deleção intragênica em NF1

ORPHA:252164