MCID: ATY004
MIFTS: 23

Atypical Neurofibroma

Categories: Cancer diseases, Neuronal diseases

Aliases & Classifications for Atypical Neurofibroma

MalaCards integrated aliases for Atypical Neurofibroma:

Name: Atypical Neurofibroma 12 15 70

Classifications:



External Ids:

Disease Ontology 12 DOID:5153
NCIt 50 C41426
SNOMED-CT 67 734083001
UMLS 70 C1510961

Summaries for Atypical Neurofibroma

MalaCards based summary : Atypical Neurofibroma is related to neurofibroma and neurilemmoma. An important gene associated with Atypical Neurofibroma is PDPN (Podoplanin). Affiliated tissues include skin, and related phenotypes are neoplasm and pigmentation

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 91)
# Related Disease Score Top Affiliating Genes
1 neurofibroma 30.2 SOX10 NF1 CDKN2A CD34
2 neurilemmoma 29.8 SOX10 NF1 CD34
3 neurilemmomatosis 29.7 SOX10 NF1 CDKN2A
4 malignant peripheral nerve sheath tumor 29.5 SOX10 NF1 CDKN2A CD34
5 plexiform neurofibroma 29.4 SUZ12 NF1 LRRC37B CDKN2A
6 epiglottis cancer 10.3 PDPN CD34
7 colonic lymphangioma 10.3 PDPN CD34
8 hobnail hemangioma 10.3 PDPN CD34
9 testicular fibroma 10.3 PDPN CD34
10 capillary lymphangioma 10.3 PDPN CD34
11 congenital granular cell tumor 10.3 PDPN CD34
12 mechanical ectropion 10.3 NF1 CD34
13 lymphangiosarcoma 10.3 PDPN CD34
14 epithelioid neurofibroma 10.3 NF1 CD34
15 pacinian tumor 10.3 NF1 CD34
16 small intestine leiomyoma 10.3 NF1 CD34
17 subungual glomus tumor 10.3 NF1 CD34
18 dacryocystocele 10.3 PDPN NF1
19 orbital cancer 10.3 NF1 CD34
20 chronic inflammation of lacrimal passage 10.3 PDPN NF1
21 benign peritoneal mesothelioma 10.3 PDPN CD34
22 cystic lymphangioma 10.3 PDPN CD34
23 subglottis benign neoplasm 10.3 PDPN NF1
24 vaginal endometrial stromal sarcoma 10.3 SUZ12 CD34
25 supraglottis neoplasm 10.2 PDPN CDKN2A
26 vagina sarcoma 10.2 SUZ12 CD34
27 cervical adenosarcoma 10.2 SUZ12 CD34
28 middle ear squamous cell carcinoma 10.2 CDKN2A CD34
29 gallbladder adenoma 10.2 PDPN CDKN2A
30 capillary hemangioma 10.2 PDPN CD34
31 adult xanthogranuloma 10.2 NF1 CD34
32 penile benign neoplasm 10.2 PDPN CDKN2A
33 inflammatory liposarcoma 10.2 CDKN2A CD34
34 supraglottis cancer 10.2 PDPN CDKN2A
35 glomus tumor 10.2 CDKN2A CD34
36 infiltrating angiolipoma 10.2 CDKN2A CD34
37 posterior fossa ependymoma 10.2 SUZ12 CDKN2A
38 exophthalmos 10.2 NF1 CD34
39 ischemic fasciitis 10.2 CDKN2A CD34
40 tenosynovial giant cell tumor 10.2 CDKN2A CD34
41 paraganglioma and gastric stromal sarcoma 10.2 NF1 CD34
42 laryngeal benign neoplasm 10.2 PDPN CDKN2A
43 retroperitoneum carcinoma 10.2 CDKN2A CD34
44 vulvar disease 10.2 CDKN2A CD34
45 sarcomatoid mesothelioma 10.2 PDPN CDKN2A
46 vulvar dystrophy 10.2 CDKN2A CD34
47 familial retinoblastoma 10.2 NF1 CDKN2A
48 respiratory system benign neoplasm 10.2 CDKN2A CD34
49 sweat gland benign neoplasm 10.2 SOX10 CD34
50 benign mesothelioma 10.2 PDPN CDKN2A

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



Diseases related to Atypical Neurofibroma

Symptoms & Phenotypes for Atypical Neurofibroma

MGI Mouse Phenotypes related to Atypical Neurofibroma:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.35 CD34 CDKN2A NF1 SOX10 SUZ12
2 pigmentation MP:0001186 8.92 CDKN2A NF1 SOX10 SUZ12

Drugs & Therapeutics for Atypical Neurofibroma

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 A Phase I/II Study of the Cyclin-Dependent Kinase(CDK)4/6 Inhibitor Abemaciclib for Neurofibromatosis Type 1 (NF1) Related Atypical Neurofibromas Not yet recruiting NCT04750928 Phase 1, Phase 2 Abemaciclib
2 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

MalaCards organs/tissues related to Atypical Neurofibroma:

40
Skin

Publications for Atypical Neurofibroma

Articles related to Atypical Neurofibroma:

(show all 22)
# Title Authors PMID Year
1
Cdkn2a Loss in a Model of Neurofibroma Demonstrates Stepwise Tumor Progression to Atypical Neurofibroma and MPNST. 61
32816910 2020
2
Cdkn2a (Arf) loss drives NF1-associated atypical neurofibroma and malignant transformation. 61
31091306 2019
3
Cutaneous Atypical Neurofibroma: A Case Report and Review of Literature. 61
28719433 2018
4
Histopathologic evaluation of atypical neurofibromatous tumors and their transformation into malignant peripheral nerve sheath tumor in patients with neurofibromatosis 1-a consensus overview. 61
28551330 2017
5
A rare case of recurrent malignant triton tumor in a male with NF1: Case report and mini-review. 61
26975033 2016
6
Loss of H3K27 trimethylation distinguishes malignant peripheral nerve sheath tumors from histologic mimics. 61
26585554 2016
7
Vascular Innervation in Benign Neurofibromas of Patients with Neurofibromatosis Type 1. 61
26637864 2015
8
The effect of surgical margins on outcomes for low grade MPNSTs and atypical neurofibroma. 61
25111615 2014
9
Lost in translation: ambiguity in nerve sheath tumor nomenclature and its resultant treatment effect. 61
24216989 2013
10
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). 61
22645095 2013
11
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. 61
23060584 2012
12
Pathology of peripheral nerve sheath tumors: diagnostic overview and update on selected diagnostic problems. 61
22327363 2012
13
Atypical neurofibroma and osteosclerotic metastasis. 61
22606453 2012
14
Atypical neurofibromas in neurofibromatosis type 1 are premalignant tumors. 61
21987445 2011
15
Podoplanin and CD34 in peripheral nerve sheath tumours: focus on neurofibromatosis 1-associated atypical neurofibroma. 61
20821344 2011
16
Atypical plexiform neurofibroma in NF1 with high standardised uptake value (SUV) in positron-emission tomography (PET) expressing podoplanin. 61
21164047 2010
17
Atypical neurofibroma of the skin and subcutaneous tissue: clinicopathologic analysis of 11 cases. 61
19469864 2010
18
Hybrid schwannoma/perineurioma: clinicopathologic analysis of 42 distinctive benign nerve sheath tumors. 61
19623031 2009
19
Radiation induced peripheral nerve tumors: case series and review of the literature. 61
17206473 2007
20
DNA ploidy and chromosome (FISH) pattern analysis of peripheral nerve sheath tumors. 61
15623944 2004
21
Low grade malignant peripheral nerve sheath tumour: varied cytological and histological patterns. 61
14600126 2003
22
[Clinically atypical neurofibroma]. 61
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

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

# Name GO ID Score Top Affiliating Genes
1 spinal cord development GO:0021510 8.96 SUZ12 NF1
2 peripheral nervous system development GO:0007422 8.62 SOX10 NF1

Sources for Atypical Neurofibroma

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
20 GARD
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
44 MeSH
45 MESH via Orphanet
46 MGI
49 NCI
50 NCIt
51 NDF-RT
53 NINDS
54 Novoseek
56 OMIM via Orphanet
57 OMIM® (Updated 05-Apr-2021)
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 Tocris
70 UMLS
71 UMLS via Orphanet
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