MCID: ATY004
MIFTS: 30

Atypical Neurofibroma

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

MalaCards integrated aliases for Atypical Neurofibroma:

Name: Atypical Neurofibroma 11 14 71

Classifications:



External Ids:

Disease Ontology 11 DOID:5153
SNOMED-CT 68 734083001
UMLS 71 C1510961

Summaries for Atypical Neurofibroma

MalaCards based summary: Atypical Neurofibroma is related to neurofibroma and malignant peripheral nerve sheath tumor. An important gene associated with Atypical Neurofibroma is NF1 (Neurofibromin 1), and among its related pathways/superpathways are Chromatin organization and Cellular Senescence. Affiliated tissues include skin, and related phenotypes are Decreased viability and Increased shRNA abundance (Z-score > 2)

Related Diseases for Atypical Neurofibroma

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

(show top 50) (show all 217)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 30.1 TP53 SOX10 NF2 NF1 CDKN2A
2 malignant peripheral nerve sheath tumor 29.9 TP53 SOX10 NF2 NF1 CDKN2A
3 neurofibromatosis, type i 29.9 TP53 SUZ12 NF2 NF1 CDKN2A
4 neurilemmoma 28.8 SOX10 SMARCB1 NF2 NF1 LZTR1
5 neurofibromatosis 28.8 TP53 SUZ12 SMARCB1 NF2 NF1 LZTR1
6 neurilemmomatosis 28.2 SOX10 SMARCB1 SMARCA2 NF2 NF1 LZTR1
7 plexiform neurofibroma 28.1 TP53 SUZ12 SOX10 SMARCB1 NF2 NF1
8 childhood malignant schwannoma 10.3 SUZ12 NF1
9 cellular neurofibroma 10.3 SOX10 NF1
10 malignant glandular tumor of peripheral nerve sheath 10.3 SOX10 NF1
11 gastric liposarcoma 10.3 NF1 CDKN2A
12 malignant triton tumor 10.3 SOX10 NF1
13 acral lentiginous melanoma 10.3 NF1 CDKN2A
14 epithelioid neurofibroma 10.3 NF2 NF1
15 neurilemmoma of the fifth cranial nerve 10.2 NF2 NF1
16 small intestine leiomyoma 10.2 NF2 NF1
17 trigeminal nerve neoplasm 10.2 NF2 NF1
18 spinal cord astrocytoma 10.2 NF2 NF1
19 epidural spinal canal neoplasm 10.2 NF2 NF1
20 orbital cancer 10.2 NF2 NF1
21 polyp of corpus uteri 10.2 NF2 NF1
22 intravascular fasciitis 10.2 SOX10 CDKN2A
23 rete ovarii adenoma 10.2 NF2 NF1
24 anus basaloid carcinoma 10.2 SOX10 CDKN2A
25 rete ovarii benign neoplasm 10.2 NF2 NF1
26 spinal cord oligodendroglioma 10.2 TP53 NF1
27 b-lymphoblastic leukemia/lymphoma with t(9;22)(q34.1;q11.2) 10.2 TP53 CDKN2A
28 endometrial squamous cell carcinoma 10.2 TP53 CDKN2A
29 esophagus verrucous carcinoma 10.2 TP53 CDKN2A
30 verrucous carcinoma 10.2 TP53 CDKN2A
31 optic nerve glioma 10.2 NF2 NF1
32 juvenile pilocytic astrocytoma 10.2 TP53 NF1
33 bizarre leiomyoma 10.2 TP53 CDKN2A
34 intraneural perineurioma 10.2 SOX10 NF2
35 cervical adenosarcoma 10.2 TP53 SUZ12
36 squamous cell papilloma 10.2 TP53 CDKN2A
37 penile benign neoplasm 10.2 TP53 CDKN2A
38 larynx squamous papilloma 10.2 TP53 CDKN2A
39 suppressor of tumorigenicity 3 10.2 TP53 CDKN2A
40 fibrillary astrocytoma 10.2 TP53 NF1
41 conjunctival squamous cell carcinoma 10.2 TP53 CDKN2A
42 sarcomatoid mesothelioma 10.2 NF2 CDKN2A
43 bladder clear cell adenocarcinoma 10.2 TP53 CDKN2A
44 lip cancer 10.2 TP53 CDKN2A
45 male urethral cancer 10.2 TP53 CDKN2A
46 spinal cord glioma 10.2 NF2 NF1
47 chronic cervicitis 10.2 TP53 CDKN2A
48 mucosal melanoma 10.2 SOX10 NF1 CDKN2A
49 lymphoepithelioma-like carcinoma 10.2 TP53 CDKN2A
50 basaloid squamous cell carcinoma 10.2 TP53 CDKN2A

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



Diseases related to Atypical Neurofibroma

Symptoms & Phenotypes for Atypical Neurofibroma

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

25 (show all 22)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Decreased viability GR00221-A-1 9.89 CDKN2A NF1 SMARCB1 SUZ12
2 Decreased viability GR00221-A-2 9.89 NF1 SMARCB1 SUZ12
3 Decreased viability GR00221-A-3 9.89 CDKN2A SMARCB1
4 Decreased viability GR00221-A-4 9.89 CDKN2A NF1
5 Decreased viability GR00249-S 9.89 NF1 SMARCB1 SUZ12
6 Decreased viability GR00381-A-1 9.89 SMARCB1
7 Decreased viability GR00386-A-1 9.89 NF1 SUZ12
8 Increased shRNA abundance (Z-score > 2) GR00366-A-11 9.47 EED
9 Increased shRNA abundance (Z-score > 2) GR00366-A-116 9.47 EED
10 Increased shRNA abundance (Z-score > 2) GR00366-A-13 9.47 SUZ12
11 Increased shRNA abundance (Z-score > 2) GR00366-A-155 9.47 EED
12 Increased shRNA abundance (Z-score > 2) GR00366-A-176 9.47 SMARCB1
13 Increased shRNA abundance (Z-score > 2) GR00366-A-181 9.47 SUZ12
14 Increased shRNA abundance (Z-score > 2) GR00366-A-190 9.47 SUZ12
15 Increased shRNA abundance (Z-score > 2) GR00366-A-194 9.47 SMARCB1
16 Increased shRNA abundance (Z-score > 2) GR00366-A-208 9.47 SUZ12
17 Increased shRNA abundance (Z-score > 2) GR00366-A-54 9.47 EED
18 Increased shRNA abundance (Z-score > 2) GR00366-A-63 9.47 SUZ12
19 Increased shRNA abundance (Z-score > 2) GR00366-A-75 9.47 SMARCB1
20 Increased shRNA abundance (Z-score > 2) GR00366-A-97 9.47 EED
21 Increased shRNA abundance (Z-score > 2) GR00366-A-98 9.47 EED
22 Increased proliferation GR00094-A 9.33 NF2 SMARCB1 TP53

MGI Mouse Phenotypes related to Atypical Neurofibroma:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 growth/size/body region MP:0005378 10.06 AEBP2 CDKN2A EED LZTR1 NF1 NF2
2 pigmentation MP:0001186 10.01 AEBP2 CDKN2A EED NF1 NF2 SOX10
3 neoplasm MP:0002006 9.97 CDKN2A NF1 NF2 SMARCA2 SMARCB1 SOX10
4 embryo MP:0005380 9.86 CDKN2A NF1 NF2 SMARCB1 SOX10 SUZ12
5 digestive/alimentary MP:0005381 9.76 AEBP2 CDKN2A NF1 NF2 SMARCA2 SMARCB1
6 mortality/aging MP:0010768 9.7 AEBP2 CDKN2A LZTR1 NF1 NF2 SMARCA2
7 integument MP:0010771 9.28 AEBP2 CDKN2A EED NF1 NF2 SMARCA2

Drugs & Therapeutics for Atypical Neurofibroma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Whole Body MRI to Identify Atypical Neurofibromas in Patients With NF1 and High Plexiform Neurofibroma Tumor Burden Active, not recruiting NCT03820778

Search NIH Clinical Center for Atypical Neurofibroma

Genetic Tests for Atypical Neurofibroma

Anatomical Context for Atypical Neurofibroma

Organs/tissues related to Atypical Neurofibroma:

MalaCards : Skin

Publications for Atypical Neurofibroma

Articles related to Atypical Neurofibroma:

(show all 25)
# Title Authors PMID Year
1
Peripheral Nerve Sheath Tumors Resembling Human Atypical Neurofibroma in Goldfish (Carassius auratus, Linnaeus, 1758). 62
34573587 2021
2
Laryngeal malignant peripheral nerve sheath tumor mixed with high- and low-grade malignancies. 62
34476079 2021
3
Prevalence of oral neurofibroma in Central Indian population: A retrospective study of 20 years. 62
34349407 2021
4
Cdkn2a Loss in a Model of Neurofibroma Demonstrates Stepwise Tumor Progression to Atypical Neurofibroma and MPNST. 62
32816910 2020
5
Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. 62
31091306 2019
6
Cutaneous Atypical Neurofibroma: A Case Report and Review of Literature. 62
28719433 2018
7
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. 62
28551330 2017
8
Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. 62
26585554 2016
9
A rare case of recurrent malignant triton tumor in a male with NF1: Case report and mini-review. 62
26975033 2016
10
Vascular Innervation in Benign Neurofibromas of Patients with Neurofibromatosis Type 1. 62
26637864 2015
11
The effect of surgical margins on outcomes for low grade MPNSTs and atypical neurofibroma. 62
25111615 2014
12
Lost in translation: ambiguity in nerve sheath tumor nomenclature and its resultant treatment effect. 62
24216989 2013
13
18-fluorodeoxyglucose-positron emission tomography (FDG-PET) evaluation of nodular lesions in patients with Neurofibromatosis type 1 and plexiform neurofibromas (PN) or malignant peripheral nerve sheath tumors (MPNST). 62
22645095 2013
14
Surgery for atypical plexiform neurofibromas of the trunk in NF1 with high standardised uptake value (SUV) in positron-emission tomography (PET) expressing podoplanin: a long-term follow-up. 62
23060584 2012
15
Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems. 62
22327363 2012
16
Atypical neurofibroma and osteosclerotic metastasis. 62
22606453 2012
17
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. 62
21987445 2011
18
Podoplanin and CD34 in peripheral nerve sheath tumours: focus on neurofibromatosis 1-associated atypical neurofibroma. 62
20821344 2011
19
Atypical plexiform neurofibroma in NF1 with high standardised uptake value (SUV) in positron-emission tomography (PET) expressing podoplanin. 62
21164047 2010
20
Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. 62
19469864 2010
21
Hybrid schwannoma/perineurioma: clinicopathologic analysis of 42 distinctive benign nerve sheath tumors. 62
19623031 2009
22
Radiation induced peripheral nerve tumors: case series and review of the literature. 62
17206473 2007
23
DNA ploidy and chromosome (FISH) pattern analysis of peripheral nerve sheath tumors. 62
15623944 2004
24
Low grade malignant peripheral nerve sheath tumour: varied cytological and histological patterns. 62
14600126 2003
25
[Clinically atypical neurofibroma]. 62
4678527 1972

Variations for Atypical Neurofibroma

Expression for Atypical Neurofibroma

Search GEO for disease gene expression data for Atypical Neurofibroma.

Pathways for Atypical Neurofibroma

GO Terms for Atypical Neurofibroma

Cellular components related to Atypical Neurofibroma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 bBAF complex GO:0140092 9.62 SMARCB1 SMARCA2
2 DNA packaging complex GO:0044815 9.26 SMARCB1 SMARCA2
3 germ cell nucleus GO:0043073 9.26 TP53 SMARCB1
4 SWI/SNF superfamily-type complex GO:0070603 9.16 SMARCB1 SMARCA2
5 ESC/E(Z) complex GO:0035098 9.1 SUZ12 EED AEBP2

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

(show all 12)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of cell differentiation GO:0045597 9.93 SMARCB1 SMARCA2 NF2
2 negative regulation of protein kinase activity GO:0006469 9.91 NF2 NF1 CDKN2A
3 regulation of G1/S transition of mitotic cell cycle GO:2000045 9.91 SMARCB1 SMARCA2 CDKN2A
4 oligodendrocyte differentiation GO:0048709 9.88 SUZ12 SOX10 NF1
5 chromatin organization GO:0006325 9.87 AEBP2 EED SMARCA2 SMARCB1 SUZ12
6 neuroblast proliferation GO:0007405 9.85 TP53 SOX10 NF1
7 negative regulation of neuroblast proliferation GO:0007406 9.78 TP53 NF1
8 negative regulation of cell population proliferation GO:0008285 9.73 TP53 SMARCB1 SMARCA2 NF2 NF1 MIR29C
9 negative regulation of glial cell proliferation GO:0060253 9.67 TP53 NF1
10 negative regulation of Schwann cell proliferation GO:0010626 9.63 SOX10 NF2 NF1
11 Schwann cell proliferation GO:0014010 9.56 NF2 NF1
12 negative regulation of cell-matrix adhesion GO:0001953 9.17 NF2 NF1 MIR29C CDKN2A

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

# Name GO ID Score Top Affiliating Genes
1 chromatin binding GO:0003682 9.5 TP53 SUZ12 SOX10 SMARCA2 EED
2 promoter-specific chromatin binding GO:1990841 9.1 TP53 SUZ12 SOX10

Sources for Atypical Neurofibroma

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
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