MCID: EPT008
MIFTS: 35

Epithelioid Malignant Peripheral Nerve Sheath Tumor

Categories: Cancer diseases, Neuronal diseases
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Aliases & Classifications for Epithelioid Malignant Peripheral Nerve Sheath Tumor

MalaCards integrated aliases for Epithelioid Malignant Peripheral Nerve Sheath Tumor:

Name: Epithelioid Malignant Peripheral Nerve Sheath Tumor 11 14 16 71
Malignant Epithelioid Neoplasm of the Peripheral Nerve Sheath 11
Epithelioid Mpnst 11

Classifications:



External Ids:

Disease Ontology 11 DOID:8353
NCIt 49 C6561
SNOMED-CT 68 253093000
UMLS 71 C1321427

Summaries for Epithelioid Malignant Peripheral Nerve Sheath Tumor

MalaCards based summary: Epithelioid Malignant Peripheral Nerve Sheath Tumor, also known as malignant epithelioid neoplasm of the peripheral nerve sheath, is related to malignant peripheral nerve sheath tumor and neurofibromatosis. An important gene associated with Epithelioid Malignant Peripheral Nerve Sheath Tumor is SMARCB1 (SWI/SNF Related, Matrix Associated, Actin Dependent Regulator Of Chromatin, Subfamily B, Member 1), and among its related pathways/superpathways are Chromatin Regulation / Acetylation and Regulation of nuclear beta catenin signaling and target gene transcription. The drugs Cyclophosphamide and Ifosfamide have been mentioned in the context of this disorder. Affiliated tissues include thyroid, breast and liver, and related phenotypes are neoplasm and pigmentation

Related Diseases for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Diseases related to Epithelioid Malignant Peripheral Nerve Sheath Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 306)
# Related Disease Score Top Affiliating Genes
1 malignant peripheral nerve sheath tumor 31.3 SOX10 NF1 MYOG CD34
2 neurofibromatosis 30.9 SUZ12 SMARCB1 NF1
3 neurilemmoma 30.4 SOX10 SMARCB1 NF1 MLANA ENO2 CD34
4 neurofibroma 30.4 SOX10 NF1 MLANA CD34
5 medulloepithelioma 30.3 SMARCB1 MYOG ENO2
6 melanoma 30.3 SSX2 SOX10 NF1 MLANA EWSR1 ENO2
7 neurofibromatosis, type i 30.1 SUZ12 NF1 EWSR1 ENO2 CD34
8 connective tissue benign neoplasm 29.7 SOX10 NF1 MLANA EWSR1 ENO2 CD34
9 rhabdoid cancer 29.7 SSX2 SS18 SMARCB1 SMARCA4 EWSR1
10 sarcoma 29.6 SUZ12 SSX2 SS18 SMARCB1 MYOG EWSR1
11 neurilemmomatosis 29.5 SSX2 SS18 SOX10 SMARCB1 SMARCA4 NF1
12 epithelioid sarcoma 29.4 SSX2 SS18 SMARCB1 SMARCA4 EWSR1 CD34
13 neuroblastoma 29.4 SMARCA4 NF1 EWSR1 ENO2 CD34
14 ewing sarcoma 29.3 SSX2 SS18 SMARCB1 NF1 MYOG EWSR1
15 mesenchymal cell neoplasm 29.2 SSX2 SS18 SMARCB1 NF1 MYOG MLANA
16 gastrointestinal stromal tumor 29.2 SSX2 SS18 SOX10 NF1 MLANA EWSR1
17 neurofibromatosis-noonan syndrome 10.5
18 soft tissue sarcoma 10.4
19 conjunctival pigmentation 10.3 SOX10 MLANA
20 peripheral nerve schwannoma 10.3 SMARCB1 NF1
21 optic nerve sheath meningioma 10.3 SMARCB1 NF1
22 spinal cord melanoma 10.3 SOX10 MLANA
23 conjunctival nevus 10.3 NF1 MLANA
24 choroid cancer 10.3 NF1 MLANA
25 malignant dermis tumor 10.3 NF1 MLANA
26 cervix melanoma 10.3 SOX10 MLANA
27 vulvar melanoma 10.3 NF1 MLANA
28 malignant skin fibrous histiocytoma 10.3 NF1 MLANA
29 optic nerve neoplasm 10.3 SMARCB1 NF1
30 pericytoma with t(7;12) 10.3 SOX10 EWSR1
31 spinal canal and spinal cord meningioma 10.3 SMARCB1 NF1
32 spinal meningioma 10.3 SMARCB1 NF1
33 central nervous system angiosarcoma 10.3 SMARCB1 CD34
34 proliferative fasciitis 10.3 SMARCB1 CD34
35 neurofibroma of the esophagus 10.3 SOX10 CD34
36 retroperitoneal leiomyosarcoma 10.3 SMARCB1 CD34
37 acral lentiginous melanoma 10.2 NF1 MLANA
38 bone epithelioid hemangioma 10.2 ZNF444 EWSR1
39 epithelial-myoepithelial carcinoma 10.2 SOX10 EWSR1
40 epithelioid neurofibroma 10.2 NF1 CD34
41 cutaneous leiomyosarcoma 10.2 MLANA CD34
42 hepatic angiomyolipoma 10.2 MLANA CD34
43 intraneural perineurioma 10.2 SOX10 CD34
44 coffin-siris syndrome 1 10.2
45 thyroid cancer, nonmedullary, 1 10.2
46 chordoma 10.2
47 cervical cancer 10.2
48 rhabdoid tumor predisposition syndrome 1 10.2
49 angiosarcoma 10.2
50 sensorineural hearing loss 10.2

Graphical network of the top 20 diseases related to Epithelioid Malignant Peripheral Nerve Sheath Tumor:



Diseases related to Epithelioid Malignant Peripheral Nerve Sheath Tumor

Symptoms & Phenotypes for Epithelioid Malignant Peripheral Nerve Sheath Tumor

MGI Mouse Phenotypes related to Epithelioid Malignant Peripheral Nerve Sheath Tumor:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 neoplasm MP:0002006 9.7 CD34 EWSR1 NF1 SMARCA4 SMARCB1 SOX10
2 pigmentation MP:0001186 9.65 MLANA NF1 SMARCA4 SOX10 SUZ12
3 embryo MP:0005380 9.5 MYOG NF1 SMARCA4 SMARCB1 SOX10 SS18
4 integument MP:0010771 9.23 CD34 EWSR1 MLANA MYOG NF1 SMARCA4

Drugs & Therapeutics for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Drugs for Epithelioid Malignant Peripheral Nerve Sheath Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 12)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
2
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
3
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
4
Mechlorethamine Approved, Investigational Phase 2, Phase 3 51-75-2 4033
5
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
6
Palifosfamide Investigational Phase 2, Phase 3 31645-39-3 100427
7 Anti-Bacterial Agents Phase 2, Phase 3
8 Alkylating Agents Phase 2, Phase 3
9 Antineoplastic Agents, Alkylating Phase 2, Phase 3
10 Antibiotics, Antitubercular Phase 2, Phase 3
11 Liposomal doxorubicin Phase 2, Phase 3
12
Lysine Approved, Nutraceutical 56-87-1 5962

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Pazopanib Neoadjuvant Trial in Non-Rhabdomyosarcoma Soft Tissue Sarcomas (PAZNTIS): A Phase II/III Randomized Trial of Preoperative Chemoradiation or Preoperative Radiation Plus or Minus Pazopanib (NSC# 737754) Active, not recruiting NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
2 Tazemetostat Expanded Access Program for Adults With Solid Tumors Temporarily not available NCT03874455 Tazemetostat

Search NIH Clinical Center for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Genetic Tests for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Anatomical Context for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Organs/tissues related to Epithelioid Malignant Peripheral Nerve Sheath Tumor:

MalaCards : Thyroid, Breast, Liver

Publications for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Articles related to Epithelioid Malignant Peripheral Nerve Sheath Tumor:

(show top 50) (show all 60)
# Title Authors PMID Year
1
Malignant peripheral nerve sheath tumor in children: A clinicopathologic and molecular study with parallels to the adult counterpart. 62
36414547 2022
2
S100-negative epithelioid malignant peripheral nerve sheath tumor with possible perineurial differentiation. 62
34635937 2022
3
Epithelioid Malignant Peripheral Nerve Sheath Tumor in the Liver: Report of a Rare Unusual Case with Rhabdoid Morphology and Review of the Literature. 62
35223119 2022
4
A novel BRD4-LEUTX fusion in a pediatric sarcoma with epithelioid morphology and diffuse S100 expression. 62
34041805 2021
5
Cytomorphologic Spectrum of SMARCB1-Deficient Soft Tissue Neoplasms. 62
33608696 2021
6
SWI/SNF complex-deficient soft tissue neoplasms: An update. 62
32646614 2021
7
A case of INI1-deficient tumor in the forearm successfully diagnosed as epithelioid malignant peripheral nerve sheath tumor: Intratumoral nerve fibers with Wallerian degeneration as a diagnostic aid. 62
33559197 2021
8
A Rare Case of Epithelioid Malignant Peripheral Nerve Sheath Tumor Mimicking Malignant Melanoma. 62
33763318 2021
9
Vaginal epithelioid malignant peripheral nerve sheath tumor nearly misdiagnosed as advanced cervical cancer: A case report. 62
33360976 2021
10
A rare case of malignant vagus nerve sheath tumor presenting with multiple cranial nerve dysfunction in a dog. 62
33012818 2020
11
Primary pulmonary epithelioid malignant peripheral nerve sheath tumor in a child: a case report. 62
32355847 2020
12
Epithelioid malignant peripheral nerve sheath tumor arising in schwannoma. 62
32913618 2020
13
Recurrent epithelioid malignant peripheral nerve sheath tumor with neurofibromatosis type 1: A case report and literature review. 62
31452784 2019
14
Epithelioid Malignant Peripheral Nerve Sheath Tumor (Epithelioid-MPNST) Presenting as Bleeding Rectal Polyp: A Case Report with Systematic Literature Review. 62
31399553 2019
15
[Epithelioid malignant peripheral nerve sheath tumor: report of a case]. 62
31422602 2019
16
Proximal-Type Epithelioid Sarcoma in Skull Base: a Pathological Diagnosis Challenge with Other Intracranial Tumors. 62
29076075 2019
17
SMARCB1-deficient Tumors of Childhood: A Practical Guide. 62
29280680 2018
18
Clinicopathologic features and immunohistochemical spectrum of 11 cases of epithelioid malignant peripheral nerve sheath tumors, including INI1/SMARCB1 results and BRAF V600E analysis. 62
28452074 2017
19
SMARCB1/INI1 Loss in Epithelioid Schwannoma: A Clinicopathologic and Immunohistochemical Study of 65 Cases. 62
28368924 2017
20
Metastatic Epithelioid Malignant Peripheral Nerve Sheath Tumor in a Known Case of Neurofibromatosis-1, Cytomorphological Appearance, and Critical Analysis of Immunohistochemistry. 62
29200699 2017
21
Cutaneous Malignant Peripheral Nerve Sheath Tumor. 62
28477884 2017
22
Methylation-based classification of benign and malignant peripheral nerve sheath tumors. 62
26857854 2016
23
Fine-needle aspiration cytology of epithelioid malignant peripheral nerve sheath tumor: A case report and review of the literature. 62
26646298 2016
24
Secondary Neoplasms in Children with Hodgkin's Lymphoma Receiving C-MOPP and Radiotherapy: Presentation of Four Cases. 62
26377258 2016
25
Diagnostically Challenging Epithelioid Soft Tissue Tumors. 62
26297059 2015
26
Epithelioid malignant peripheral nerve sheath tumor: clinicopathologic analysis of 63 cases. 62
25602794 2015
27
A misdiagnosed melanoma: a case of cutaneous epithelioid malignant peripheral nerve sheath tumor. 62
25933073 2015
28
Huge epithelioid malignant peripheral nerve sheath tumor in the left axilla: a case report. 62
26366361 2015
29
Benign epithelioid peripheral nerve sheath tumour resembling schwannoma. 62
25500523 2014
30
Malignant epithelioid peripheral nerve sheath tumor with prominent reticular/microcystic pattern in a child: a low-grade neoplasm with 18-years follow-up. 62
21768875 2014
31
[Metastases to the breast from non-mammary malignancies: a clinicopathologic study of 28 cases]. 62
24915812 2014
32
Selected topics in the pathology of epithelioid soft tissue tumors. 62
24384854 2014
33
Rapidly progressive epithelioid malignant peripheral nerve sheath tumor of the vestibular nerve. 62
23988994 2013
34
Conventional spindle cell-type malignant peripheral nerve sheath tumor arising in a sporadic schwannoma. 62
24007690 2013
35
Clinicopathological features, diagnosis and treatment of clear cell sarcoma/melanoma of soft parts. 62
25031505 2013
36
Sporadic superficial diffuse neurofibromas with repeated local recurrence over many years and a tendency toward malignant change: a report of 3 cases. 62
23648456 2013
37
A small intraneural epithelioid malignant peripheral nerve sheath tumour of the median nerve simulating a benign lesion: description of a case and review of the literature. 62
21197591 2012
38
Epithelioid malignant peripheral nerve sheath tumor arising in a schwannoma, in a patient with "neuroblastoma-like" schwannomatosis and a novel germline SMARCB1 mutation. 62
22082606 2012
39
Epithelioid malignant peripheral nerve sheath tumor of the uterine corpus. 62
20952276 2011
40
Epithelioid Lesions. 62
26837652 2011
41
Advanced epithelioid malignant peripheral nerve sheath tumor showing complete response to combined surgery and chemotherapy: a case report. 62
22606446 2011
42
Malignant neuroectodermal tumor with melanocytic and rhabdomyoblastic differentiation. 62
21139905 2009
43
Loss of INI1 expression is characteristic of both conventional and proximal-type epithelioid sarcoma. 62
19033866 2009
44
Concurrent epithelioid malignant peripheral nerve sheath tumor and papillary thyroid carcinoma in the treated field of Hodgkin's disease. 62
17972308 2008
45
Epithelioid malignant peripheral nerve sheath tumor in the infraorbital nerve. 62
16550070 2006
46
Osteoclast-rich tumor of the gastrointestinal tract with features resembling those of clear cell sarcoma of soft parts. 62
16220298 2006
47
Epithelioid malignant peripheral nerve sheath tumor involving maxillary sinus. 62
16382783 2005
48
Epithelioid malignant peripheral nerve sheath tumor. Report of a case with inflammatory infiltration. 62
15991844 2005
49
Immunohistochemical diagnosis of a rare case of epithelioid malignant peripheral nerve sheath tumor with multiple metastases. 62
15592781 2004
50
[Epithelioid malignant peripheral nerve sheath tumor. A case report]. 62
15107669 2004

Variations for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Expression for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Search GEO for disease gene expression data for Epithelioid Malignant Peripheral Nerve Sheath Tumor.

Pathways for Epithelioid Malignant Peripheral Nerve Sheath Tumor

GO Terms for Epithelioid Malignant Peripheral Nerve Sheath Tumor

Cellular components related to Epithelioid Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 GBAF complex GO:0140288 9.67 SS18 SMARCA4
2 bBAF complex GO:0140092 9.62 SMARCB1 SMARCA4
3 SWI/SNF complex GO:0016514 9.43 SS18 SMARCB1 SMARCA4
4 DNA packaging complex GO:0044815 9.26 SMARCB1 SMARCA4
5 SWI/SNF superfamily-type complex GO:0070603 9.16 SMARCB1 SMARCA4
6 npBAF complex GO:0071564 9.1 SS18 SMARCB1 SMARCA4

Biological processes related to Epithelioid Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 negative regulation of cell differentiation GO:0045596 9.8 SUZ12 SS18 SMARCA4
2 RNA polymerase I preinitiation complex assembly GO:0001188 9.73 SMARCB1 SMARCA4
3 positive regulation of stem cell population maintenance GO:1902459 9.73 SS18 SMARCB1 SMARCA4
4 positive regulation of transcription of nucleolar large rRNA by RNA polymerase I GO:1901838 9.71 SMARCB1 SMARCA4
5 negative regulation of Schwann cell proliferation GO:0010626 9.67 SOX10 NF1
6 positive regulation of myoblast differentiation GO:0045663 9.63 SMARCB1 SMARCA4 MYOG
7 oligodendrocyte differentiation GO:0048709 9.43 SUZ12 SOX10 NF1
8 positive regulation of glucose mediated signaling pathway GO:1902661 8.92 SMARCB1 SMARCA4

Molecular functions related to Epithelioid Malignant Peripheral Nerve Sheath Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 DNA-binding transcription activator activity GO:0001216 9.33 SOX10 MYOG
2 Tat protein binding GO:0030957 9.26 SMARCB1 SMARCA4
3 RNA polymerase I core promoter sequence-specific DNA binding GO:0001164 8.92 SMARCB1 SMARCA4

Sources for Epithelioid Malignant Peripheral Nerve Sheath Tumor

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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