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MCID: PLX002
MIFTS: 46

Plexiform Neurofibroma

Categories: Cancer diseases, Neuronal diseases
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Aliases & Classifications for Plexiform Neurofibroma

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MalaCards integrated aliases for Plexiform Neurofibroma:

Name: Plexiform Neurofibroma 11 5 14 16 71
Neurofibroma, Plexiform 43
Neurofibroma Plexiform 53

Classifications:

MalaCards categories:
Global: Cancer diseases
Anatomical: Neuronal diseases
See all MalaCards categories (disease lists)


External Ids:

Disease Ontology 11 DOID:5151
MeSH 43 D018318
NCIt 49 C3797
SNOMED-CT 68 41252002
UMLS 71 C0206728
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Summaries for Plexiform Neurofibroma

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MalaCards based summary: Plexiform Neurofibroma, also known as neurofibroma, plexiform, is related to neurofibromatosis-noonan syndrome and neurofibroma. An important gene associated with Plexiform Neurofibroma is CDKN2B-AS1 (CDKN2B Antisense RNA 1), and among its related pathways/superpathways are ERK Signaling and GPCR Pathway. The drugs Peginterferon alfa-2b and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include salivary gland, dorsal root ganglion and bone, and related phenotypes are Decreased viability and nervous system
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Related Diseases for Plexiform Neurofibroma

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Diseases related to Plexiform Neurofibroma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 404)
# Related Disease Score Top Affiliating Genes
1 neurofibromatosis-noonan syndrome 31.6 SPRED1 NF1 MAP2K1 LZTR1 HRAS
2 neurofibroma 31.0 TP53 SPRED1 SOX10 PDGFRA NF2 NF1
3 glioma susceptibility 1 30.6 TP53 LZTR1 CDKN2B-AS1
4 neurofibromatosis, type ii 30.6 NF2 NF1 LZTR1
5 skin benign neoplasm 30.6 TP53 NF1 HRAS
6 acoustic neuroma 30.5 NF2 NF1 LZTR1
7 neuroma 30.5 NF2 NF1 LZTR1 KIT
8 neurilemmoma 30.5 SOX10 PDGFRA NF2 NF1 LZTR1 KIT
9 malignant peripheral nerve sheath tumor 30.5 TP53 SOX10 PDGFRA NF2 NF1 MMP13
10 lipomatosis, multiple 30.4 TP53 SPRED1 NF1 KIT
11 low grade glioma 30.4 TP53 PDGFRA NF1 CDKN2A
12 optic nerve glioma 30.3 SPRED1 NFIC NF2 NF1
13 pulmonary valve stenosis 30.3 SPRED1 MAP2K1 LZTR1
14 large congenital melanocytic nevus 30.3 SOX10 HRAS CDKN2A
15 bap1 tumor predisposition syndrome 30.2 TP53 NF2 NF1 LZTR1 KIT CDKN2A
16 arteriovenous malformation 30.2 NF1 MAP2K1 HRAS
17 salivary gland adenoid cystic carcinoma 30.2 TP53 SOX10 KIT
18 cellular schwannoma 30.1 SOX10 NF2 NF1 KIT
19 plexiform schwannoma 30.1 SOX10 NF2 NF1 LZTR1 KIT
20 neurofibromatosis, type i 30.1 TP53 SUZ12 SPRED1 PDGFRA NFIC NF2
21 neurofibromatosis 30.1 TP53 SUZ12 SPRED1 PDGFRA NF2 NF1
22 neurilemmomatosis 30.1 SPRED1 SOX10 NF2 NF1 LZTR1 CDKN2A
23 hemangioma 30.0 TP53 MAP2K1 KIT CDKN2A
24 testicular germ cell tumor 30.0 KITLG KIT HRAS
25 adenoid cystic carcinoma 30.0 TP53 KIT HRAS CDKN2A
26 sarcoma 29.9 TP53 SUZ12 PDGFRA KIT HRAS
27 melanoma in congenital melanocytic nevus 29.9 TP53 SOX10 KIT HRAS CDKN2A
28 skin melanoma 29.8 TP53 MAP2K1 KIT HRAS CDKN2A
29 atypical neurofibroma 29.5 TP53 SUZ12 SOX10 NF2 NF1 LZTR1
30 neurofibrosarcoma 29.4 TP53 SUZ12 SOX10 NFIC NF2 NF1
31 rasopathy 29.1 TP53 SPRED1 NF2 NF1 MAP2K1 LZTR1
32 gastrointestinal stromal tumor 28.9 TP53 SOX10 PDGFRA NF2 NF1 MAP2K1
33 melanoma 28.7 TP53 SOX10 PDGFRA NF1 MAP2K1 KITLG
34 peripheral nervous system disease 28.7 TP53 SOX10 NFIC NF2 NF1 MAP2K1
35 contractures, pterygia, and spondylocarpotarsal fusion syndrome 1a 10.6
36 cafe-au-lait spots, multiple 10.4
37 cauda equina syndrome 10.4
38 glanders 10.4
39 epithelioid neurofibroma 10.4 NF2 NF1
40 childhood malignant schwannoma 10.4 SUZ12 NF1
41 rare tumor 10.4
42 small intestinal sarcoma 10.4 PDGFRA KIT
43 deep leiomyoma 10.4 PDGFRA KIT
44 keratosis pilaris atrophicans faciei 10.4 NF1 MAP2K1
45 neurilemmoma of the fifth cranial nerve 10.4 NF2 NF1
46 trigeminal nerve neoplasm 10.4 NF2 NF1
47 gastric leiomyosarcoma 10.3 PDGFRA KIT
48 mechanical ectropion 10.3 NFIC NF1
49 spinal cord astrocytoma 10.3 NF2 NF1
50 full schwannomatosis 10.3 NF2 LZTR1

Graphical network of the top 20 diseases related to Plexiform Neurofibroma:



Diseases related to Plexiform Neurofibroma
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Symptoms & Phenotypes for Plexiform Neurofibroma

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GenomeRNAi Phenotypes related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

25 (show all 13)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00055-A-1 9.98 HRAS
2 Decreased viability GR00055-A-2 9.98 HRAS
3 Decreased viability GR00055-A-3 9.98 NF2
4 Decreased viability GR00107-A-1 9.98 MAP2K1
5 Decreased viability GR00173-A 9.98 PDGFRA
6 Decreased viability GR00221-A-1 9.98 CDKN2A HRAS KIT NF1 PDGFRA SUZ12
7 Decreased viability GR00221-A-2 9.98 HRAS NF1 SUZ12
8 Decreased viability GR00221-A-3 9.98 CDKN2A HRAS PDGFRA DHH MAP2K1 NF2
9 Decreased viability GR00221-A-4 9.98 CDKN2A NF1 PDGFRA
10 Decreased viability GR00249-S 9.98 NF1 PDGFRA SUZ12 NF2
11 Decreased viability GR00301-A 9.98 KIT
12 Decreased viability GR00386-A-1 9.98 NF1 SUZ12
13 Decreased viability GR00402-S-2 9.98 PDGFRA

MGI Mouse Phenotypes related to Plexiform Neurofibroma:

45 (show all 21)
# Description MGI Source Accession Score Top Affiliating Genes
1 nervous system MP:0003631 10.47 CDKN2A DHH EGR2 HRAS KIT KITLG
2 growth/size/body region MP:0005378 10.43 CDKN2A EGR2 HRAS KIT KITLG LZTR1
3 homeostasis/metabolism MP:0005376 10.42 CDKN2A DHH EGR2 HRAS KIT KITLG
4 neoplasm MP:0002006 10.33 CDKN2A HRAS KIT KITLG MAP2K1 NF1
5 endocrine/exocrine gland MP:0005379 10.29 CDKN2A DHH HRAS KIT KITLG MAP2K1
6 pigmentation MP:0001186 10.25 CDKN2A KIT KITLG NF1 NF2 PDGFRA
7 normal MP:0002873 10.24 EGR2 HRAS KIT MAP2K1 NF1 NPHS1
8 embryo MP:0005380 10.24 CDKN2A EGR2 KIT KITLG MAP2K1 NF1
9 craniofacial MP:0005382 10.23 EGR2 HRAS KIT KITLG LZTR1 MAP2K1
10 digestive/alimentary MP:0005381 10.22 CDKN2A DHH HRAS KIT KITLG MAP2K1
11 limbs/digits/tail MP:0005371 10.21 EGR2 KIT KITLG MMP13 NF1 PDGFRA
12 cellular MP:0005384 10.21 CDKN2A EGR2 KIT KITLG LZTR1 MAP2K1
13 cardiovascular system MP:0005385 10.18 CDKN2A EGR2 HRAS KIT KITLG LZTR1
14 behavior/neurological MP:0005386 10.18 CDKN2A EGR2 HRAS KIT MAP2K1 NF1
15 hearing/vestibular/ear MP:0005377 10.14 EGR2 KIT KITLG MAP2K1 NF1 NF2
16 no phenotypic analysis MP:0003012 10.12 CDKN2A EGR2 HRAS KIT PDGFRA SOX10
17 reproductive system MP:0005389 10.03 CDKN2A DHH EGR2 KIT KITLG MAP2K1
18 skeleton MP:0005390 10.03 CDKN2A EGR2 HRAS KIT KITLG LZTR1
19 respiratory system MP:0005388 10.02 CDKN2A EGR2 HRAS KIT NF1 NF2
20 mortality/aging MP:0010768 9.83 CDKN2A EGR2 HRAS KIT KITLG LZTR1
21 integument MP:0010771 9.44 CDKN2A EGR2 HRAS KIT KITLG MAP2K1
Sources

Drugs & Therapeutics for Plexiform Neurofibroma

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Drugs for Plexiform Neurofibroma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 51)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Peginterferon alfa-2b Approved Phase 2 215647-85-1, 99210-65-8
2
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030
3
Pirfenidone Approved, Investigational Phase 2 53179-13-8 40632
4
Dabrafenib Approved, Investigational Phase 1, Phase 2 1195765-45-7 44462760
5
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
6
Clotrimazole Approved, Vet_approved Phase 2 23593-75-1 2812
7
Vinblastine Approved Phase 2 865-21-4 241903 13342
8
Levoleucovorin Approved, Experimental, Investigational Phase 2 68538-85-2, 58-05-9, 73951-54-9 149436 6006
9
Methotrexate Approved Phase 2 1959-05-2, 59-05-2 4112 126941
10
Trametinib Approved Phase 2 871700-17-3 11707110
11
Everolimus Approved Phase 2 159351-69-6 70789204 6442177
12
Sunitinib Approved, Investigational Phase 2 557795-19-4 5329102
13
Folic acid Approved, Nutraceutical, Vet_approved Phase 2 59-30-3 6037
14
D-Tyrosine Approved, Experimental, Investigational, Nutraceutical Phase 2 133585-56-5, 60-18-4, 556-02-5 1153 6057
15
Tipifarnib Investigational Phase 2 192185-72-1 159324
16
Cediranib Investigational Phase 2 288383-20-0 9933475
17
Maleic acid Experimental, Investigational Phase 2 110-16-7, 110-17-8 444266 444972
18 Antiviral Agents Phase 2
19 Anti-Infective Agents Phase 2
20 Antirheumatic Agents Phase 2
21 Anti-Inflammatory Agents, Non-Steroidal Phase 2
22 Anti-Inflammatory Agents Phase 2
23 Analgesics, Non-Narcotic Phase 2
24 Analgesics Phase 2
25 Dermatologic Agents Phase 2
26 Pharmaceutical Solutions Phase 1, Phase 2
27 Anti-Bacterial Agents Phase 2
28 Antifungal Agents Phase 2
29 Antibiotics, Antitubercular Phase 2
30 Folic Acid Antagonists Phase 2
31 Folate Phase 2
32 Vitamin B9 Phase 2
33 Antimitotic Agents Phase 2
34 Vitamin B Complex Phase 2
35 Antimetabolites Phase 2
36 Tubulin Modulators Phase 2
37 Mitogens Phase 2
38 Angiogenesis Inhibitors Phase 2
39 Immunosuppressive Agents Phase 2
40 Immunologic Factors Phase 2
41
Sorafenib Approved, Investigational Phase 1 284461-73-0 216239
42
Peginterferon alfa-2a Approved, Investigational Phase 1 198153-51-4
43
Acetaminophen Approved Phase 1 103-90-2 1983
44
Talaporfin Investigational Phase 1 110230-98-3
45 Interferon alpha-2 Phase 1
46 interferons Phase 1
47 Interferon-alpha Phase 1
48 Antipyretics Phase 1
49 Photosensitizing Agents Phase 1
50 Fluorodeoxyglucose F18

Interventional clinical trials:

(show top 50) (show all 52)
# Name Status NCT ID Phase Drugs
1 Acceptance and Commitment Training for Adolescents and Young Adults With Neurofibromatosis Type 1, Plexiform Neurofibromas, and Chronic Pain: A Phase III Clinical Trial Completed NCT02471339 Phase 3
2 A Phase III, Multicentre, International Study With a Parallel, Randomised, Double-blind, Placebo-controlled, 2 Arm Design to Assess the Efficacy and Safety of Selumetinib in Adult Participants With NF1 Who Have Symptomatic, Inoperable Plexiform Neurofibromas (KOMET) Recruiting NCT04924608 Phase 3 Selumetinib
3 A Phase II Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00396019 Phase 2 PEG-Intron
4 A Single Arm, Multicenter Phase II a Trial of RAD001 as Monotherapy in the Treatment of Neurofibromatosis 1 Related Internal Plexiform Neurofibromas That Cannot be Removed by Surgery Completed NCT01412892 Phase 2 RAD001: Everolimus
5 A Phase II Randomized, Cross-Over, Double-Blinded, Placebo-Controlled Trial of the Farnesyltransferase Inhibitor R115777 in Pediatric Patients With Neurofibromatosis Type I and Progressive Plexiform Neurofibromas Completed NCT00021541 Phase 2 tipifarnib
6 Phase II Trial of Pirfenidone in Children, Adolescents, and Young Adults With Neurofibromatosis Type 1 and Progressive Plexiform Neurofibromas Completed NCT00076102 Phase 2 Pirfenidone
7 An Open-Label, Dose-Escalation, Phase I/II Study to Investigate the Safety, Pharmacokinetics, Pharmacodynamics and Clinical Activity of the MEK Inhibitor Trametinib in Children and Adolescents Subjects With Cancer or Plexiform Neurofibromas and Trametinib in Combination With Dabrafenib in Children and Adolescents With Cancers Harboring V600 Mutations Completed NCT02124772 Phase 1, Phase 2 Trametinib;Dabrafenib
8 A Phase II Study of the mTOR Inhibitor Sirolimus in Neurofibromatosis Type 1 Related Plexiform Neurofibromas Completed NCT00634270 Phase 2 Sirolimus
9 Phase II Study of Gleevec/Imatinib Mesylate (STI-571, NCS 716051) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01673009 Phase 2 Gleevec
10 Vinblastine/Methotrexate For Severe Progressive Plexiform Neurofibromas: A Phase II Study Completed NCT00030264 Phase 2 Methotrexate;Vinblastine
11 Pilot Study of Gleevec/Imatinib Mesylate (STI-571, NSC 716051) in Neurofibromatosis (NF1) Patient With Plexiform Neurofibromas Completed NCT01140360 Phase 1, Phase 2 Gleevec
12 A Paediatric Phase I/II Study Of Intermittent Dosing Of The Mek-1 Inhibitor Selumetinib In Children With Neurofibromatosis Type-1 And Inoperable Plexiform Neurofibroma And/Or Progressive Optic Pathway Glioma Recruiting NCT03326388 Phase 1, Phase 2 Selumetinib
13 A Multi-center, Open-label, Single-arm Phase I Dose-escalation and Phase II Dose-expansion Study to Evaluate the Safety, Tolerability, PK Characteristics and Anti-tumor Activity of FCN-159 in Adult and Pediatric Participants With Neurofibromatosis Type 1 Recruiting NCT04954001 Phase 1, Phase 2 FCN-159
14 A Multi-center, Open-label, Single-arm Phase II Study to Evaluate the Efficacy and Safety of HL-085 in the Treatment of Adult Participants With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Recruiting NCT05331105 Phase 2 HL-085
15 Treatment of NF1-related Plexiform Neurofibroma With Trametinib; a Single Arm, Open-label Trial With the Goals of Volumetric Partial Remission and Pain Relief Active, not recruiting NCT03741101 Phase 2 Trametinib
16 A Phase 2 Study of Trametinib for Patients With Pediatric Glioma or Plexiform Neurofibroma With Refractory Tumor and Activation of the MAPK/ERK Pathway. Active, not recruiting NCT03363217 Phase 2 Trametinib
17 A Phase II Study of Binimetinib in Children and Adults With NF1 Associated Plexiform Neurofibromas (PNOC010) Active, not recruiting NCT03231306 Phase 2 Binimetinib
18 A Phase 2b Trial of the MEK 1/2 Inhibitor (MEKi) PD-0325901 in Adult and Pediatric Patients With Neurofibromatosis Type 1 (NF1)-Associated Inoperable Plexiform Neurofibromas (PNs) That Are Causing Significant Morbidity Active, not recruiting NCT03962543 Phase 2 Mirdametinib (PD-0325901) oral capsule or dispersible tablet
19 A Phase I/II Study of the Mitogen Activated Protein Kinase Kinase (MEK) 1 Inhibitor Selumetinib (AZD6244; Hydrogen Sulfate in Children With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN) Active, not recruiting NCT01362803 Phase 1, Phase 2 AZD6244
20 A Phase II Study of Cabozantinib (XL184) for Plexiform Neurofibromas in Subjects With Neurofibromatosis Type 1 in Children and Adults Active, not recruiting NCT02101736 Phase 2 Cabozantinib
21 Phase II Trial of the MEK1/2 Inhibitor Selumetinib (AZD6244 Hydrogen Sulfate in Adults With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas Active, not recruiting NCT02407405 Phase 2 Selumetinib
22 A Phase II Study of AZD2171 in Adult Patients With Neurofibromatosis Type 1 and Extensive Plexiform and Paraspinal Neurofibromas Terminated NCT00326872 Phase 2 Cediranib Maleate
23 A Phase II Study of RAD001 in the Treatment of Patients With Plexiform Neurofibromas (PN) Associated With Neurofibromatosis Type 1 (NF1) Terminated NCT01365468 Phase 2 Everolimus (RAD001)
24 Phase II Study of Imatinib Mesylate in Neurofibromatosis Type I Patients Aged 2 to 21 With Plexiform Neurofibromas Terminated NCT02177825 Phase 2 Imatinib Mesylate
25 A Pilot Study of Sutent®/Sunitinib (SU11248), an Oral Multi-Targeted Tyrosine Kinase Inhibitor in Subjects With NF-1 Plexiform Neurofibromas Terminated NCT01402817 Phase 2 Sutent®/Sunitinib
26 Phase 2 Study of Imatinib in Children With Neurofibromatosis and Airway Tumors Withdrawn NCT03688568 Phase 2 Imatinib Mesylate
27 Phase I Trial of the Raf Kinase and Receptor Tyrosine Kinase Inhibitor Sorafenib (BAY 43-9006, Nexavar) in Children and Young Adults With Neurofibromatosis Type 1 and Inoperable Plexiform Neurofibromas Completed NCT00727233 Phase 1 Nexavar (BAY 43-9006) (Sorafenib);Toxicity, Pharmacokinetics;Pharmacodynamics;Radiographic Evaluation;QOL assessment, Neuropsychological;Bony Toxicity
28 Phase I Trial Of Pirfenidone In Children With Neurofibromatosis Type 1 And Plexiform Neurofibromas Completed NCT00053937 Phase 1 pirfenidone
29 A Phase I Trial of Peginterferon Alfa-2b (PEG-Intron) for Plexiform Neurofibromas Completed NCT00253474 Phase 1
30 A Phase I, Open-label, Single-center Relative Bioavailability and Food Effect Randomized Crossover Study of New Granule and Capsule Formulations of Selumetinib (AZD6244) in Healthy Male Subjects Completed NCT03649165 Phase 1 Treatment A;Treatment B;Treatment C;Treatment D;Acetaminophen
31 Transformation of Plexiform Neurofibromas to Malignant Peripheral Nerve Sheath Tumors in Neurofibromatosis Type 1: Clinical, Histopathologic, and Genomic Analysis Completed NCT02211768 Phase 1 [18F]-FLT-PET/CT scans
32 Phase I Trial of Turalio(R) (Pexidartinib, PLX3397) in Children and Young Adults With Refractory Leukemias and Refractory Solid Tumors Including Neurofibromatosis Type 1 (NF1) Associated Plexiform Neurofibromas (PN) Recruiting NCT02390752 Phase 1 Turalio
33 A Phase 1 Open Label Study to Assess the Safety, Tolerability, Pharmacokinetics and Clinical Efficacy of Selumetinib, a Selective Mitogen Activated Protein Kinase Kinase (MEK) 1 Inhibitor, in Chinese Paediatric and Adult Subjects With Neurofibromatosis Type 1 (NF1) and Inoperable Plexiform Neurofibromas (PN) Active, not recruiting NCT04590235 Phase 1 Selumetinib
34 A Phase I, Single-Arm, Sequential Study to Evaluate the Effect of Food on the Gastrointestinal Toxicity and Pharmacokinetics of Selumetinib After Multiple Doses in Adolescent Children With Neurofibromatosis Type 1 Related Plexiform Neurofibromas Active, not recruiting NCT05101148 Phase 1 Selumetinib
35 Phase I Clinical Study of the Safety of Photodynamic Therapy (PDT) Using Intratumoral Delivery of Non-coherent Light for Photoactivation of LS11 in Children With Plexiform Neurofibromas Terminated NCT00716469 Phase 1 LS11
36 Targeting the Mechanisms Underlying Cutaneous Neurofibroma Formation in NF1: A Clinical Translational Approach. Unknown status NCT02777775
37 An Intermediate Access Protocol for Selumetinib for Treatment of Neurofibromatosis Type 1 With Inoperable, Progressive/Symptomatic Plexiform Neurofibromas (PN) Approved for marketing NCT03259633 Selumetinib
38 Childhood Cancer and Plexiform Neurofibroma Tissue Microarray for Molecular Target Screening and Clinical Drug Development Completed NCT00340522
39 Systematically Assessing Changes in Plexiform Neurofibroma Related Disfigurement From Photographs of Subjects With Neurofibromatosis Type 1 on a Phase 2 Clinical Trial Completed NCT04879160
40 Pilot Study of [18F] Fluorodeoxyglucose Positron Emission Tomography- Magnetic Resonance Imaging (FDG-PET-MRI) in CNS and Extra-CNS Tumors of Patients With Neurofibromatosis-1 (NF1) Completed NCT01800032
41 Natural History of Plexiform in Neurofibromatosis Type I Completed NCT00006435
42 Pilot Study of Tasigna®/Nilotinib (AMN107) in Neurofibromatosis (NF1) Patients With Plexiform Neurofibromas Completed NCT01275586 Early Phase 1 Tasigna
43 Developing Novel Biomarkers of Plexiform Neurofibroma Tumor Burden Recruiting NCT05238909
44 Development and Validation of Patient Reported Outcome (PRO) Measures for Individuals With Neurofibromatosis 1 (NF1) and Plexiform Neurofibromas (pNFs) Recruiting NCT02544022
45 Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 and High Plexiform Neurofibroma Tumor Burden Active, not recruiting NCT03820778
46 Natural History Study and Longitudinal Assessment of Children, Adolescents, and Adults With Neurofibromatosis Type 1 Active, not recruiting NCT00924196
47 Pilot Study of Medication Adherence in Children, Adolescents, and Adults With Neurofibromatosis Type 1 (NF1) on Clinical Treatment Trials Active, not recruiting NCT03531814
48 Incidence of Malignant Peripheral Nerve Sheath Tumors Development in Patients With Neurofibromatosis Type 1 Receiving and Not Receiving Medical Therapies Directed at Plexiform Neurofibromas Active, not recruiting NCT04774289
49 Individual Patient Compassionate Use of Mirdametinib Available NCT05028166 Mirdametinib (MEK Inhibitor)
50 Evaluation of Percutaneous Cryotherapy in the Treatment of Plexiform Neurofibromas and Unresectable Neurofibromas in Neurofibromatosis Type 1 (NF1) Not yet recruiting NCT05199376

Search NIH Clinical Center for Plexiform Neurofibroma

Cochrane evidence based reviews: neurofibroma, plexiform

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Genetic Tests for Plexiform Neurofibroma

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Anatomical Context for Plexiform Neurofibroma

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Organs/tissues related to Plexiform Neurofibroma:

MalaCards : Salivary Gland, Dorsal Root Ganglion, Bone, Tongue, Trigeminal Ganglion, Uterus, Skin
Sources

Publications for Plexiform Neurofibroma

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Articles related to Plexiform Neurofibroma:

(show top 50) (show all 836)
# Title Authors PMID Year
1
Molecular characterization of permanent cell lines from primary, metastatic and recurrent malignant peripheral nerve sheath tumors (MPNST) with underlying neurofibromatosis-1. 53 62
19414372 2009
2
NF1 plexiform neurofibroma growth rate by volumetric MRI: relationship to age and body weight. 53 62
17215493 2007
3
Psoriatic skin expresses the transcription factor Gli1: possible contribution of decreased neurofibromin expression. 53 62
16536802 2006
4
Differentially expressed genes in neurofibromatosis 1-associated neurofibromas and malignant peripheral nerve sheath tumors. 53 62
14673600 2004
5
Aberrant CpG island methylation in neurofibromas and neurofibrosarcomas. 53 62
12883734 2003
6
Pathology of tumors of the peripheral nerve sheath in type 1 neurofibromatosis. 53 62
10469433 1999
7
Efficacy and safety profile of selumetinib in symptomatic inoperable plexiform neurofibromas. 62
35301838 2022
8
Paediatric Strategy Forum for medicinal product development in mitogen-activated protein kinase pathway inhibitors: ACCELERATE in collaboration with the European Medicines Agency with participation of the Food and Drug Administration. 62
36335782 2022
9
Selumetinib in children with neurofibromatosis type 1 and asymptomatic inoperable plexiform neurofibroma at risk for developing tumor-related morbidity. 62
35467749 2022
10
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart. 62
36414547 2022
11
Head circumference and anthropometric changes and their relation to plexiform and skin neurofibromas in sporadic and familial neurofibromatosis 1 Brazilian adults: a cross-sectional study. 62
36064430 2022
12
Multiple Nf1 Schwann cell populations reprogram the plexiform neurofibroma tumor microenvironment. 62
36134665 2022
13
Burden Among Caregivers of Pediatric Patients with Neurofibromatosis Type 1 (NF1) and Plexiform Neurofibroma (PN) in the United States: A Cross-Sectional Study. 62
35679001 2022
14
Clinical impact of selumetinib on pediatric elephantiasis neuromatosa. 62
35739628 2022
15
Clinical and humanistic burden among pediatric patients with neurofibromatosis type 1 and plexiform neurofibroma in the USA. 62
35579709 2022
16
Cardiac Function in Children and Young Adults Treated with MEK Inhibitors: A Retrospective Cohort Study. 62
35233653 2022
17
Imaging characteristics of orbital peripheral nerve sheath tumors: Analysis of 34 cases. 62
36158022 2022
18
Choroidal ganglioneuromas in Francois variant neurofibromatosis-1: A rare retinoblastoma mimic. 62
35791167 2022
19
Efficacy and Safety of Trametinib in Neurofibromatosis Type 1-Associated Plexiform Neurofibroma and Low-Grade Glioma: A Systematic Review and Meta-Analysis. 62
36015104 2022
20
Phase II Study of Selumetinib in Children and Young Adults With Tumors Harboring Activating Mitogen-Activated Protein Kinase Pathway Genetic Alterations: Arm E of the NCI-COG Pediatric MATCH Trial. 62
35363510 2022
21
Plexiform Neurofibroma With Activating KRAS Mutation and Segmental Presentation Involving the Unilateral Eyelid. 62
35797671 2022
22
The Prevalence of Ocular Manifestations in the Various Types of Common Skin Disorders at Tertiary Hospital in Ahmedabad, India. 62
35844330 2022
23
Location, symptoms, and management of plexiform neurofibromas in 127 children with neurofibromatosis 1, attending the National Complex Neurofibromatosis 1 service, 2018-2019. 62
35178860 2022
24
Epidemiological profile and clinical characteristics of 491 Brazilian patients with neurofibromatosis type 1. 62
35506373 2022
25
Extensive Pelvic Plexiform Neurofibroma Presenting As Clitoromegaly in a 3-Year-Old Female: Presentation and Management with MEK Inhibitor. 62
35769967 2022
26
Concomitant variants in NF1, LZTR1 and GNAZ genes probably contribute to the aggressiveness of plexiform neurofibroma and warrant treatment with MEK inhibitor. 62
34913528 2022
27
Imaging Findings of Pediatric Orbital Masses and Tumor Mimics. 62
35245105 2022
28
Cobimetinib in Pediatric and Young Adult Patients with Relapsed or Refractory Solid Tumors (iMATRIX-cobi): A Multicenter, Phase I/II Study. 62
35715627 2022
29
ERBB2 and ERBB3 Growth Factor Receptors, Neuregulin-1, CD44 and Ki-67 Proliferation Index in Neurofibromatosis Type 1-associated Peripheral Nerve Sheath Tumors. 62
35489721 2022
30
Posterior-Anterior Cephalometric Study of Neurofibromatosis Type 1 Patients With Facial Plexiform Neurofibroma: Analysis of Skeletal Symmetry Concerning Midfacial and Skull Base Reference Points (Zygomatic Arch, Mastoid, and Juga). 62
35489741 2022
31
The challenging management of an assident parotid tumor: a case of solitary plexiform neurofibroma of the parotid facial nerve. 62
33568323 2022
32
Endovascular embolization of spontaneous massive hemorrhage of a facial plexiform neurofibroma: case report and literature review. 62
35604941 2022
33
Left ventricular free-wall rupture: An unusual presentation of non-bacterial thrombotic endocarditis. 62
35575314 2022
34
Plexiform neurofibroma of the cauda equina with follow-up of 10 years: A case report. 62
35663073 2022
35
Challenging Management of Plexiform Schwannoma and Plexiform Neurofibroma. 62
34855632 2022
36
Unusual abdominal pain: A mesenteric plexiform neurofibroma. 62
34473877 2022
37
Peripheral Nerve Sheath Tumors in Patients With Neurofibromatosis Type 1: Morphological and Immunohistochemical Study. 62
35220215 2022
38
Primary lacrimal gland plexiform neurofibroma: a case report and review of the literature. 62
35312416 2022
39
Double Head: Giant Solitary Occipital Scalp Plexiform Neurofibroma Without Neurofibromatosis. 62
34958991 2022
40
Early presentation of neurofibromatosis type I patient with clitoromegaly and café au lait spots: A case report. 62
35003457 2022
41
A Case Series of Plexiform Neurofibroma: The Unusual Presentations and Surgical Challenges. 62
35308189 2022
42
Giant Perineal Plexiform Neurofibroma in an 8-Year-Old African Male. 62
35234555 2022
43
Combined Cyclin-Dependent Kinase Inhibition Overcomes MAPK/Extracellular Signal-Regulated Kinase Kinase Inhibitor Resistance in Plexiform Neurofibroma of Neurofibromatosis Type I. 62
34534577 2022
44
Orthopaedic manifestations of neurofibromatosis type 1: A case report. 62
35069816 2022
45
Pediatric cervical kyphosis in the MRI era (1984-2008) with long-term follow up: literature review. 62
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46
Adolescents and young adults with neurofibromatosis type 1: A descriptive study of adaptive functioning. 62
34731530 2022
47
Plexiform neurofibroma of the uterus. 62
34839387 2022
48
Coblation debulking of a paediatric laryngeal plexiform neurofibroma: a pragmatic response to a rare tumour. 62
35096374 2022
49
Surgical debulking of a large thoracoabdominal plexiform neurofibroma with pericardial resection. 62
34151490 2022
50
Evaluation of the dimensions, morphology, and position of the mandibular condyles in individuals with neurofibromatosis 1: a case-control study. 62
34050829 2022
Sources

Variations for Plexiform Neurofibroma

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ClinVar genetic disease variations for Plexiform Neurofibroma:

5
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 NF1 NM_001042492.3(NF1):c.5813-1G>A SNV Likely Pathogenic
 374204 rs1057518974 GRCh37: 17:29661855-29661855
GRCh38: 17:31334837-31334837

Copy number variations for Plexiform Neurofibroma from CNVD:

6
# CNVD ID Chromosome Start End Type Gene Symbol CNVD Disease
1 109397 17 25800000 31800000 Deletion NF1 Plexiform neurofibroma
2 109445 17 26082 26121 Microdeletion SUZ12 Plexiform neurofibroma
3 109456 17 26183 26246 Microdeletion ATAD5 Plexiform neurofibroma
4 109470 17 26273 26310 Microdeletion ADAP2 Plexiform neurofibroma
5 109475 17 26322 26351 Microdeletion RNF135 Plexiform neurofibroma
6 109535 17 26645 26648 Microdeletion OMG Plexiform neurofibroma
7 109543 17 26668 26672 Microdeletion EVI2A Plexiform neurofibroma
8 109598 17 27203 27210 Microdeletion COPRS Plexiform neurofibroma
Sources

Expression for Plexiform Neurofibroma

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Search GEO for disease gene expression data for Plexiform Neurofibroma.
Sources

Pathways for Plexiform Neurofibroma

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Pathways related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

(show all 35)
# Super pathways Score Top Affiliating Genes
1
ERK Signaling 64
Show member pathways
 13.68 TP53 SOX10 PDGFRA NF1 MAP2K1 KITLG
2
GPCR Pathway 64
Show member pathways
 13.63 TP53 PDGFRA MMP13 MAP2K1 KITLG KIT
3
Disease 66
Show member pathways
 13.61 TP53 SUZ12 SPRED1 PDGFRA NF1 MAP2K1
4
RAF/MAP kinase cascade 66
Show member pathways
 13.25 SPRED1 PDGFRA NF1 MAP2K1 KITLG KIT
5
Signal Transduction 66
13.15 TP53 SUZ12 SPRED1 PDGFRA NF2 NF1
6
Phospholipase-C Pathway 64
Show member pathways
 12.99 HRAS KIT KITLG MAP2K1 PDGFRA TP53
7
PI3K-Akt signaling pathway 74
Show member pathways
 12.86 TP53 PDGFRA MAP2K1 KITLG KIT HRAS
8
Development Angiotensin activation of ERK 22
Show member pathways
 12.76 PDGFRA MAP2K1 KITLG KIT HRAS
9
Signaling by Receptor Tyrosine Kinases 66
12.58 SPRED1 PDGFRA MAP2K1 KITLG KIT HRAS
10
Overview of interferons-mediated signaling pathway 74
Show member pathways
 12.52 HRAS KIT KITLG MAP2K1 PDGFRA TP53
11
Endometrial cancer 74
Show member pathways
 12.5 CDKN2A HRAS KIT MAP2K1 NF1 TP53
12
NF-kappaB Pathway 70
Show member pathways
 12.37 TP53 PDGFRA MAP2K1 HRAS
13
MAPK signaling pathway 74
12.32 TP53 NF1 MAP2K1 HRAS
14
G-protein signaling RAC1 in cellular process 22
Show member pathways
 12.31 PDGFRA MAP2K1 KITLG KIT HRAS
15
Breast cancer pathway 74
Show member pathways
 12.31 TP53 PDGFRA MAP2K1 KIT HRAS
16
MAPK Signaling: Mitogens 65
Show member pathways
 12.15 TP53 PDGFRA MAP2K1 HRAS
17
Epithelial to mesenchymal transition in colorectal cancer 74
12.11 TP53 SUZ12 MAP2K1 HRAS
18
T-cell activation SARS-CoV-2 74
Show member pathways
 12.07 CDKN2A HRAS MAP2K1 TP53
19
Oncogenic MAPK signaling 66
Show member pathways
 12.05 SPRED1 NF1 MAP2K1 HRAS
20
Ras signaling 74
12.03 PDGFRA NF1 MAP2K1 KIT HRAS
21
Tyrosine Kinases / Adaptors 3
12.02 SPRED1 PDGFRA KITLG KIT
22
Malignant pleural mesothelioma 74
11.89 TP53 SUZ12 PDGFRA NF2 MAP2K1 KITLG
23
Signaling by SCF-KIT 66
Show member pathways
 11.84 KITLG KIT HRAS
24
Gastrin signaling pathway 74
11.84 CDKN2A HRAS KIT MAP2K1
25
Hippo-Merlin signaling dysregulation 74
Show member pathways
 11.79 PDGFRA NF2 KIT
26
Senescence and autophagy in cancer 74
11.78 TP53 MAP2K1 HRAS CDKN2A
27
Thyroid hormones production and peripheral downstream signaling effects 74
11.74 HRAS MAP2K1 TP53
28
C-MYB transcription factor network 61
11.72 KITLG KIT CDKN2A
29
VEGF Pathway (Tocris) 70
Show member pathways
 11.71 MAP2K1 KIT HRAS
30
Head and neck squamous cell carcinoma 74
11.67 TP53 HRAS CDKN2A
31
Development EPO-induced Jak-STAT pathway 22
Show member pathways
 11.62 HRAS KIT KITLG MAP2K1 SPRED1
32
BDNF-TrkB signaling 74
Show member pathways
 11.57 NF1 MAP2K1 HRAS
33
Vemurafenib Pathway, Pharmacodynamics 60
11.4 PDGFRA MAP2K1 HRAS
34
Melanocyte Development and Pigmentation 64
11.35 SOX10 KITLG KIT
35
Bladder cancer 74
11.16 TP53 MAP2K1 HRAS CDKN2A
Sources

GO Terms for Plexiform Neurofibroma

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Biological processes related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

(show all 25)
# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell population proliferation GO:0008285 10.32 CDKN2A HRAS MAP2K1 NF1 NF2 TP53
2 peptidyl-tyrosine phosphorylation GO:0018108 10.22 PDGFRA MAP2K1 KITLG KIT
3 positive regulation of gene expression GO:0010628 10.16 TP53 SOX10 MAP2K1 KIT HRAS CDKN2B-AS1
4 hematopoietic progenitor cell differentiation GO:0002244 10.1 KIT KITLG PDGFRA TP53
5 negative regulation of MAPK cascade GO:0043409 10.09 SPRED1 NF2 NF1
6 oligodendrocyte differentiation GO:0048709 10.08 NF1 SOX10 SUZ12
7 neuroblast proliferation GO:0007405 10.07 TP53 SOX10 NF1
8 fibroblast proliferation GO:0048144 10.06 TP53 NF1 HRAS
9 peripheral nervous system development GO:0007422 10.03 SOX10 NF1 EGR2
10 MAPK cascade GO:0000165 10.02 HRAS MAP2K1 NF1 NF2 NPHS1
11 cell population proliferation GO:0008283 10 TP53 SUZ12 NF1 KITLG KIT
12 negative regulation of protein kinase activity GO:0006469 9.98 SPRED1 NF2 NF1 CDKN2A
13 negative regulation of cell-matrix adhesion GO:0001953 9.95 NF2 NF1 CDKN2A
14 regulation of cell population proliferation GO:0042127 9.95 TP53 NF2 NF1 KIT HRAS
15 cellular senescence GO:0090398 9.92 TP53 MAP2K1 HRAS CDKN2A
16 regulation of MAPK cascade GO:0043408 9.91 KIT NF1 SPRED1
17 positive regulation of mast cell proliferation GO:0070668 9.87 KITLG KIT
18 melanocyte migration GO:0097324 9.85 KITLG KIT
19 Schwann cell proliferation GO:0014010 9.84 NF2 NF1
20 mast cell apoptotic process GO:0033024 9.81 NF1 KITLG
21 positive regulation of phospholipase C activity GO:0010863 9.73 PDGFRA KIT HRAS
22 Ras protein signal transduction GO:0007265 9.65 TP53 NF1 KITLG HRAS CDKN2A
23 negative regulation of Schwann cell proliferation GO:0010626 9.63 NF1 NF2 SOX10
24 positive regulation of miRNA maturation GO:1903800 9.62 TP53 MAP2K1
25 mast cell proliferation GO:0070662 9.1 NF1 KITLG KIT

Molecular functions related to Plexiform Neurofibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 stem cell factor receptor binding GO:0005173 8.92 SPRED1 KITLG
Sources

Sources for Plexiform Neurofibroma

About this section
2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
34 ICD9CM
35 IUPHAR
36 LifeMap
38 LOVD
40 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
52 NINDS
53 Novoseek
55 ODiseA
56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
71 UMLS
72 UMLS via Orphanet
The MalaCards human disease database index: 1-9 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z
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