MCID: PRV003
MIFTS: 37

Perivascular Epithelioid Cell Tumor

Categories: Cancer diseases, Cardiovascular diseases

Aliases & Classifications for Perivascular Epithelioid Cell Tumor

MalaCards integrated aliases for Perivascular Epithelioid Cell Tumor:

Name: Perivascular Epithelioid Cell Tumor 12 15
Perivascular Epithelioid Cell Neoplasms 43 71
Pecoma 12 17
Neoplasm with Perivascular Epithelioid Cell Differentiation 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2643
MeSH 43 D054973
NCIt 49 C38150
SNOMED-CT 67 388601000
UMLS 71 C1300127

Summaries for Perivascular Epithelioid Cell Tumor

MalaCards based summary : Perivascular Epithelioid Cell Tumor, also known as perivascular epithelioid cell neoplasms, is related to uterus perivascular epithelioid cell tumor and rare tumor. An important gene associated with Perivascular Epithelioid Cell Tumor is TFE3 (Transcription Factor Binding To IGHM Enhancer 3), and among its related pathways/superpathways is Cytoskeletal Signaling. The drugs Doxorubicin and Trabectedin have been mentioned in the context of this disorder. Affiliated tissues include uterus, liver and colon, and related phenotypes are cellular and nervous system

Related Diseases for Perivascular Epithelioid Cell Tumor

Diseases related to Perivascular Epithelioid Cell Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 472)
# Related Disease Score Top Affiliating Genes
1 uterus perivascular epithelioid cell tumor 32.3 TSC2 TFE3 MME MLANA MITF CTSK
2 rare tumor 31.7 KIT DES ACTC1
3 kidney angiomyolipoma 31.0 TSC2 TFE3 MLANA
4 lymphangioleiomyomatosis 30.7 TSC2 PGR DES CTSK
5 angiosarcoma 30.6 MUC1 MLANA KIT
6 lymphangiomatosis 30.6 PGR DES
7 renal cell carcinoma, xp11-associated 30.5 TFE3 ASPSCR1
8 epithelioid cell melanoma 30.3 MLANA MITF
9 mesenchymal cell neoplasm 30.3 TFE3 NTRK3 MME MLANA KIT CALD1
10 adrenal cortical carcinoma 30.2 SYP MUC1 MLANA ACTC1
11 malignant mesenchymoma 30.2 DES CALD1
12 spindle cell sarcoma 30.2 NTRK3 MUC1 DES ACTC1
13 pneumothorax 30.2 PGR NKX2-1 MUC1 ACTC1
14 hepatic angiomyolipoma 30.1 TSC2 TFE3 MLANA KIT
15 alveolar soft part sarcoma 30.1 TFE3 SYP DES ASPSCR1 ACTC1
16 leiomyoma 30.1 TSC2 PGR MME KIT DES ACTC1
17 neuroendocrine carcinoma 30.0 SYP NKX2-1 MUC1 KIT
18 papillary carcinoma 30.0 SYP PGR NKX2-1 MUC1
19 fibrous histiocytoma 29.9 MITF KIT DES ACTC1
20 intravenous leiomyomatosis 29.9 PGR MME DES CALD1
21 dermatofibrosarcoma protuberans 29.9 KIT DES CDKN2A ACTC1
22 granular cell tumor 29.9 SYP NKX2-1 MLANA DES
23 rhabdomyosarcoma 29.9 SYP KIT DES CDKN2A ACTC1
24 gastrointestinal stromal tumor 29.8 SYP NTRK3 KIT DES CDKN2A ACTC1
25 leiomyosarcoma 29.8 PGR MUC1 MLANA KIT DES CDKN2A
26 epithelioid leiomyosarcoma 29.8 PGR MUC1 DES CALD1 ACTC1
27 angiomyolipoma 29.6 TSC2 TFE3 PGR MME MLANA MITF
28 smooth muscle tumor 29.6 PGR MME KIT DES CALD1 ACTC1
29 endometrial stromal sarcoma 29.6 PGR MME KIT DES CALD1 ACTC1
30 sarcoma 29.5 TFE3 MUC1 KIT DES ASPSCR1 ACTC1
31 clear cell sarcoma 29.5 TFE3 SYP MLANA MITF KIT
32 adenocarcinoma 29.5 NTRK3 NKX2-1 MUC1 KIT CDKN2A
33 skin melanoma 29.4 MLANA MITF KIT CDKN2A
34 neurilemmoma 29.4 MUC1 MLANA MITF KIT DES ACTC1
35 hemangioma 29.2 TSC2 SYP PGR NKX2-1 MUC1 KIT
36 renal cell carcinoma, nonpapillary 29.2 TSC2 TFE3 NKX2-1 MUC1 MME MITF
37 microphthalmia 29.2 TFE3 MLANA MITF KIT CTSK ACTC1
38 hemangiopericytoma, malignant 29.1 SYP MUC1 MLANA KIT DES CALD1
39 endometrial cancer 29.1 PGR NKX2-1 MUC1 MME KIT CDKN2A
40 inflammatory myofibroblastic tumor 29.0 NTRK3 MUC1 KIT DES CALD1 ACTC1
41 lung cancer susceptibility 3 28.4 TSC2 NTRK3 NKX2-1 MUC1 KIT CTSK
42 tuberous sclerosis 10.8
43 tuberous sclerosis 1 10.7
44 rare soft tissue tumor 10.6
45 fibroblastic rheumatism 10.6 DES ACTC1
46 spindle cell thymoma 10.5 MUC1 DES
47 calcifying aponeurotic fibroma 10.5 PGR ACTC1
48 reticular perineurioma 10.5 MUC1 KIT
49 axillary lipoma 10.5 MUC1 KIT
50 chronic tympanitis 10.5 PGR MUC1

Graphical network of the top 20 diseases related to Perivascular Epithelioid Cell Tumor:



Diseases related to Perivascular Epithelioid Cell Tumor

Symptoms & Phenotypes for Perivascular Epithelioid Cell Tumor

MGI Mouse Phenotypes related to Perivascular Epithelioid Cell Tumor:

45
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.07 ACTC1 CDKN2A CTSK DES KIT MITF
2 nervous system MP:0003631 9.96 ACTC1 CDKN2A CTSK KIT MITF MME
3 integument MP:0010771 9.92 CDKN2A KIT MITF MLANA MME PGR
4 no phenotypic analysis MP:0003012 9.7 CDKN2A KIT MITF MLANA NKX2-1 NTRK3
5 normal MP:0002873 9.61 ACTC1 KIT MITF NKX2-1 NTRK3 PGR
6 pigmentation MP:0001186 9.02 CDKN2A KIT MITF MLANA TFE3

Drugs & Therapeutics for Perivascular Epithelioid Cell Tumor

Drugs for Perivascular Epithelioid Cell Tumor (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 21)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Doxorubicin Approved, Investigational Phase 3 23214-92-8 31703
2
Trabectedin Approved, Investigational Phase 3 114899-77-3 108150
3 Alkylating Agents Phase 3
4
Liposomal doxorubicin Phase 3 31703
5
Sirolimus Approved, Investigational Phase 1, Phase 2 53123-88-9 5284616 6436030 46835353
6
Clotrimazole Approved, Vet_approved Phase 1, Phase 2 23593-75-1 2812
7
Miconazole Approved, Investigational, Vet_approved Phase 1, Phase 2 22916-47-8 4189
8
Ipilimumab Approved Phase 2 477202-00-9
9
nivolumab Approved Phase 2 946414-94-4
10 Anti-Infective Agents Phase 1, Phase 2
11 Immunologic Factors Phase 1, Phase 2
12 Immunosuppressive Agents Phase 1, Phase 2
13 Anti-Bacterial Agents Phase 1, Phase 2
14 Antifungal Agents Phase 1, Phase 2
15 Antibiotics, Antitubercular Phase 1, Phase 2
16 Immunoglobulins Phase 2
17 Antibodies Phase 2
18 Antibodies, Monoclonal Phase 2
19 Antineoplastic Agents, Immunological Phase 2
20
Propranolol Approved, Investigational 525-66-6 4946
21 Adrenergic beta-Antagonists

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 Maintenance Therapy With Trabectedin Versus Observation After First Line Treatment With Doxorubicin of Patients With Advanced or Metastatic Soft Tissue Sarcoma. Active, not recruiting NCT02929394 Phase 3 Trabectedin
2 DART: Dual Anti-CTLA-4 and Anti-PD-1 Blockade in Rare Tumors Recruiting NCT02834013 Phase 2
3 A Phase 1b Single Center Investigation of Safety/Efficacy of Nivolumab (Opdivo®) and ABI-009 (Nab-rapamycin) in Patients With Advanced Undifferentiated Pleomorphic Sarcoma, Liposarcoma, Chondrosarcoma, Osteosarcoma and Ewing Sarcoma Recruiting NCT03190174 Phase 1, Phase 2 Nab-Rapamycin
4 A Phase 2 Multi-center Investigation of Efficacy of ABI-009 (Nab-sirolimus) in Patients With Advanced Malignant Perivascular Epithelioid Cell Tumors (PEComa) Active, not recruiting NCT02494570 Phase 2 ABI-009
5 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
6 Evaluation of New Biomarkers Predictive of Efficacy Betablockers in PEComa and Vascular Pediatric Tumors Completed NCT02334930
7 National Multicenter Retrospective Study: PEComas: Natural History and Prognostic Recruiting NCT03916575
8 Expanded Access for an Intermediate-size Population for ABI-009 (Sirolimus Albumin-bound Nanoparticles for Injectable Suspension) in Patients With Advanced Perivascular Epithelioid Cell Tumors (PEComa) and Patients With a Malignancy With Relevant Genetic Mutations or mTOR Pathway Activation Available NCT03817515 ABI-009
9 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Not yet recruiting NCT03967834

Search NIH Clinical Center for Perivascular Epithelioid Cell Tumor

Cochrane evidence based reviews: perivascular epithelioid cell neoplasms

Genetic Tests for Perivascular Epithelioid Cell Tumor

Anatomical Context for Perivascular Epithelioid Cell Tumor

MalaCards organs/tissues related to Perivascular Epithelioid Cell Tumor:

40
Uterus, Liver, Colon, Lung, Lymph Node, Kidney, Cervix

Publications for Perivascular Epithelioid Cell Tumor

Articles related to Perivascular Epithelioid Cell Tumor:

(show top 50) (show all 350)
# Title Authors PMID Year
1
Cutaneous "fibroma-like" perivascular epithelioid cell tumor: A case report and review of literature. 61
31943330 2020
2
Perivascular Epithelioid Cell Tumor of the Urinary Bladder: A Systematic Review. 61
31865807 2020
3
A surgical case of primary perivascular epithelioid cell tumor of the heart. 61
32484981 2020
4
Maintenance of Stable Disease in Metastatic Perivascular Epithelioid Cell Tumor of the Liver With Single-Agent Sorafenib. 61
32516142 2020
5
Abdominal perivascular epithelioid cell tumor (PEComa) without visible fat: a clinicopathologic and radiological analysis of 16 cases. 61
32562157 2020
6
Uterine PEComa with aggressive behavior: A review with an additional case of spontaneous vaginal expulsion. 61
32527449 2020
7
Complexity of PEComas : Diagnostic approach, molecular background, clinical management. 61
31309284 2020
8
Malignant melanotic Xp11 neoplasms exhibit a clinicopathological spectrum and gene expression profiling akin to alveolar soft part sarcoma: a proposal for reclassification. 61
32418203 2020
9
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study. 61
32265359 2020
10
Ultrasound appearance of Perivascular Epithelioid Cell tumor (PEComa). 61
32337799 2020
11
Clinicopathologic and Molecular Analysis of the TFEB Fusion Variant Reveals New Members of TFEB Translocation Renal Cell Carcinomas (RCCs): Expanding the Genomic Spectrum. 61
31764220 2020
12
Perivascular epithelioid cell tumor (PEComa) of the pterygopalatine fossa. 61
32185058 2020
13
Imaging hepatic angiomyolipomas: key features and avoiding errors. 61
31677881 2020
14
A rare case of perivascular epithelioid cell tumor (PEComa) of the pancreas diagnosed by endoscopic ultrasound. 61
31921981 2020
15
A Primary Adrenal Epithelioid Angiomyolipoma (PEComa) in a Patient with Tuberous Sclerosis Complex: Report of a Case and Review of the Literature. 61
32256603 2020
16
Malignant perivascular epithelioid cell tumor mimicking jugular foramen schwannoma: A case report and literature review. 61
32042962 2020
17
Hepatic PEcoma: an unusual tumor in an infrequent location. 61
32116329 2020
18
[Xp11 neoplasma with melanocytic differentiation: a clinicopathological analysis]. 61
31818068 2019
19
PNL2: A Useful Adjunct Biomarker to HMB45 in the Diagnosis of Uterine Perivascular Epithelioid Cell Tumor (PEComa). 61
31851063 2019
20
Clinico-pathological features of gynecological myopericytoma: a challenging diagnosis in an exceptional location. 61
31410559 2019
21
Robotic wedge resection of a rare gastric perivascular epithelioid cell tumor: A case report. 61
31832403 2019
22
[A Case of Perivascular Epithelioid Cell Tumor (PEComa) of the Uterus Associated with Tuberous Sclerosis Complex Diagnosed by Intra-Abdominal Bleeding from the Uterus]. 61
31902183 2019
23
Is TLE1 Expression Limited to Synovial Sarcoma? Our Experience at Shifa International Hospital, Pakistan. 61
31893185 2019
24
Bladder Perivascular Epithelioid Cell Tumor: Dynamic CT and MRI Presentation of 2 Cases With 2-year Follow-up and Review of the Literature. 61
31327725 2019
25
Chills and fever as the first presentation of hepatic perivascular epithelioid cell tumor. 61
31489326 2019
26
A novel RBMX-TFE3 gene fusion in a highly aggressive pediatric renal perivascular epithelioid cell tumor. 61
31408245 2019
27
An unusual case of uterine PEComa presenting with disseminated intravascular coagulation. 61
31384655 2019
28
Gastric Perivascular Epithelioid Cell Tumor (PEComa). 61
31141597 2019
29
[Complexity of PEComas : Diagnostic approach, molecular background, clinical management (German version)]. 61
31165234 2019
30
[A suspected carcinoma finding in the uterus]. 61
30968191 2019
31
First pancreatic perivascular epithelioid cell tumor (PEComa) treated by mTOR inhibitor. 61
31130397 2019
32
Malignant Perivascular Epithelioid Cell Tumor of Lung on FDG PET/CT. 61
30829869 2019
33
Uterine Mesenchymal Tumors: Update on Classification, Staging, and Molecular Features. 61
31097109 2019
34
Sporadic perivascular epithelioid cell tumor of the wall of the jejunum A case report. 61
31310242 2019
35
Presence of eosinophilic intracytoplasmic inclusions diagnosed by fine needle aspiration cytology in perivascular epithelioid cell tumor (PEComa) arising from the cecum. 61
30499191 2019
36
PEComa of the talus: a unique case of a soft tissue tumor within bone. 61
30774002 2019
37
Melanotic Xp11-associated tumor of the sigmoid colon: A case report. 61
30863770 2019
38
Malignant perivascular epithelioid cell tumor of the lung synchronous with a primary adenocarcinoma: one case report and review of the literature. 61
30876389 2019
39
Recurrence of retroperitoneal localized perivascular epithelioid cell tumor two years after initial diagnosis: case report. 61
29340502 2019
40
[TNM classification of gynecologic malignancies : What remains to be done beyond 2017?] 61
30707273 2019
41
Giant multilocular prostatic cystadenoma. 61
30808350 2019
42
TFE3-expressing primary perivascular epithelioid cell tumor of the Lymph node mimicking nodal relapse of rectal cancer: A case report. 61
31103952 2019
43
Metastatic Perivascular Epithelioid Cell Tumor Of The Kidney: A Case Report With Emphasis On Response To The Tyrosine-Kinase Inhibitor Sunitinib. 61
32010646 2019
44
TFE3-Expressing Perivascular Epithelioid Cell Tumor of the Breast. 61
30269476 2019
45
Five cases of uterine perivascular epithelioid cell tumors (PEComas) and review of literature. 61
30317387 2019
46
Multifocal perivascular epithelioid cell tumor of the uterus: report of one case and literature review. 61
31933807 2019
47
Malignant perivascular epithelioid cell tumor in the female genital tract: Preferred reporting items for systematic reviews and meta-analyses. 61
30633211 2019
48
Pigmented/melanocytic malignant perivascular epithelioid cell tumor with TFE3-SFPQ(PSF) rearrangement - a challenging diagnosis of PEComa family of tumors. 61
32146802 2019
49
Hepatobiliary and Pancreatic: Malignant pancreatic perivascular epithelioid cell tumor mimicking pancreatic neuroendocrine tumor. 61
29888489 2018
50
Giant Perivascular Epithelioid Cell Tumor of the Orbit: A Clinicopathological Analysis and Review of the Literature. 61
30320097 2018

Variations for Perivascular Epithelioid Cell Tumor

Expression for Perivascular Epithelioid Cell Tumor

Search GEO for disease gene expression data for Perivascular Epithelioid Cell Tumor.

Pathways for Perivascular Epithelioid Cell Tumor

Pathways related to Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

# Super pathways Score Top Affiliating Genes
1 11.41 MUC1 DES CALD1 ACTC1

GO Terms for Perivascular Epithelioid Cell Tumor

Cellular components related to Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.44 TSC2 TFE3 PGR NTRK3 MUC1 MME

Biological processes related to Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 regulation of osteoclast differentiation GO:0045670 9.32 TFE3 MITF
2 replicative senescence GO:0090399 9.26 MME CDKN2A
3 positive regulation of phospholipase C activity GO:0010863 9.16 NTRK3 KIT
4 positive regulation of gene expression GO:0010628 9.1 NTRK3 NKX2-1 MITF KIT CDKN2A ACTC1
5 somatic stem cell division GO:0048103 8.96 KIT CDKN2A

Molecular functions related to Perivascular Epithelioid Cell Tumor according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.02 TFE3 PGR NKX2-1 MUC1 MITF

Sources for Perivascular Epithelioid Cell Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
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
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
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