MCID: PRV003
MIFTS: 38

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 44 70
Pecoma 12 17
Neoplasm with Perivascular Epithelioid Cell Differentiation 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2643
MeSH 44 D054973
NCIt 50 C38150
SNOMED-CT 67 388601000
UMLS 70 C1300127

Summaries for Perivascular Epithelioid Cell Tumor

MalaCards based summary : Perivascular Epithelioid Cell Tumor, also known as perivascular epithelioid cell neoplasms, is related to rare tumor and uterus perivascular epithelioid cell 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 are Cytoskeletal Signaling and Striated Muscle Contraction. The drugs Propranolol and Sirolimus have been mentioned in the context of this disorder. Affiliated tissues include uterus, colon and liver, and related phenotypes are behavior/neurological and cardiovascular 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 526)
# Related Disease Score Top Affiliating Genes
1 rare tumor 31.6 KIT DES ACTC1
2 uterus perivascular epithelioid cell tumor 31.6 TSC2 TFE3 MME MLANA MITF CALD1
3 lymphangioleiomyomatosis 31.4 TSC2 PGR DES
4 tuberous sclerosis 31.3 VIM TSC2 SYP MLANA
5 kidney angiomyolipoma 30.9 TSC2 TFE3 MLANA
6 fibroma 30.8 VIM DES ACTC1
7 myoepithelioma 30.5 VIM MUC1 ACTC1
8 renal cell carcinoma, xp11-associated 30.5 TFE3 ASPSCR1
9 clear cell renal cell carcinoma 30.3 VIM TFE3 MUC1 MME
10 epithelioid cell melanoma 30.3 MLANA MITF
11 angiosarcoma 30.3 VIM MUC1 MLANA KIT
12 mesenchymal cell neoplasm 30.3 TFE3 NTRK3 MME MLANA KIT CALD1
13 microphthalmia 30.2 TFE3 MLANA MITF KIT ACTC1
14 adrenal cortical carcinoma 30.2 VIM SYP MUC1
15 pneumothorax 30.2 VIM PGR NKX2-1 MUC1
16 epithelioid leiomyosarcoma 30.2 VIM PGR MUC1 DES ACTC1
17 fibromatosis 30.1 VIM DES ACTC1
18 neuroendocrine carcinoma 30.1 SYP NKX2-1 MUC1 KIT
19 alveolar soft part sarcoma 30.1 VIM TFE3 SYP DES ASPSCR1 ACTC1
20 papillary carcinoma 30.1 SYP PGR NKX2-1 MUC1
21 hepatic angiomyolipoma 30.0 TSC2 TFE3 MLANA
22 sarcoma 30.0 VIM TFE3 MUC1 KIT ASPSCR1 ACTC1
23 epithelioid sarcoma 30.0 VIM SYP MUC1
24 clear cell sarcoma 30.0 TFE3 SYP MLANA MITF KIT
25 liposarcoma 29.9 VIM DES CDKN2A
26 leiomyoma 29.9 VIM TSC2 PGR MME KIT DES
27 fibrosarcoma 29.9 VIM NTRK3 KIT DES ACTC1
28 leiomyosarcoma 29.9 VIM PGR MUC1 MLANA KIT DES
29 fibrous histiocytoma 29.9 VIM MITF KIT DES ACTC1
30 gastrointestinal stromal tumor 29.8 VIM SYP NTRK3 KIT DES CDKN2A
31 adenocarcinoma 29.8 NTRK3 NKX2-1 MUC1 KIT CDKN2A
32 angiomyolipoma 29.8 VIM TSC2 TFE3 PGR MME MLANA
33 lymphangiomatosis 29.8 VIM TSC2 PGR DES
34 intravenous leiomyomatosis 29.8 PGR MME DES CALD1
35 malignant mesenchymoma 29.7 DES CALD1
36 neurilemmoma 29.7 VIM MUC1 MITF KIT DES ACTC1
37 smooth muscle tumor 29.5 VIM PGR MME KIT DES CALD1
38 endometrial stromal sarcoma 29.5 VIM PGR MME KIT DES CALD1
39 dermatofibrosarcoma protuberans 29.5 VIM KIT DES CDKN2A ACTC1
40 granular cell tumor 29.5 VIM SYP NKX2-1 MLANA DES
41 renal cell carcinoma, nonpapillary 29.4 VIM TSC2 TFE3 NKX2-1 MUC1 MME
42 spindle cell sarcoma 29.3 VIM NTRK3 MUC1 KIT DES CALD1
43 myoma 29.3 PGR MME KIT CALD1
44 skin melanoma 29.2 MLANA MITF KIT CDKN2A
45 hemangiopericytoma, malignant 29.2 VIM SYP MUC1 KIT DES CALD1
46 rhabdomyosarcoma 29.1 VIM SYP MME KIT DES CDKN2A
47 endometrial cancer 28.9 PGR NKX2-1 MUC1 MME KIT CDKN2A
48 inflammatory myofibroblastic tumor 28.6 VIM NTRK3 MUC1 KIT DES CALD1
49 perivascular tumor 28.1 TSC2 TFE3 SYP MME MLANA MITF
50 perivascular epithelioid cell neoplasm 11.1

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:

46
# Description MGI Source Accession Score Top Affiliating Genes
1 behavior/neurological MP:0005386 10.18 ASPSCR1 CDKN2A DES KIT MITF MME
2 cardiovascular system MP:0005385 10.07 ACTC1 CDKN2A DES KIT MME NKX2-1
3 cellular MP:0005384 10.02 ACTC1 CDKN2A DES KIT MITF MME
4 integument MP:0010771 9.86 CDKN2A KIT MITF MLANA MME PGR
5 no phenotypic analysis MP:0003012 9.7 CDKN2A KIT MITF MLANA NKX2-1 NTRK3
6 normal MP:0002873 9.65 ACTC1 KIT MITF NKX2-1 NTRK3 PGR
7 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 11)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Propranolol Approved, Investigational 525-66-6 4946
2
Sirolimus Approved, Investigational 53123-88-9 6436030 5284616
3
Clotrimazole Approved, Vet_approved 23593-75-1 2812
4
Miconazole Approved, Investigational, Vet_approved 22916-47-8 4189
5 Adrenergic beta-Antagonists
6 Antibiotics, Antitubercular
7 Immunosuppressive Agents
8 Immunologic Factors
9 Anti-Bacterial Agents
10 Anti-Infective Agents
11 Antifungal Agents

Interventional clinical trials:


# Name Status NCT ID Phase Drugs
1 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
2 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2 BEZ235
3 National Multicenter Retrospective Study: PEComas: Natural History and Prognostic Unknown status NCT03916575
4 Evaluation of New Biomarkers Predictive of Efficacy Betablockers in PEComa and Vascular Pediatric Tumors Completed NCT02334930
5 Multimodal Immune Characterization of RAre Soft Tissue Sarcoma - MIRAS Project From SARRA (SARcome RAre) Project of the French Sarcoma Group Recruiting NCT03967834
6 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

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, Colon, Liver, Cervix, Pancreas, Lymph Node, Lung

Publications for Perivascular Epithelioid Cell Tumor

Articles related to Perivascular Epithelioid Cell Tumor:

(show top 50) (show all 381)
# Title Authors PMID Year
1
Fibroma-like perivascular epithelioid cell tumor: a rare case in a long bone. 61
32944815 2021
2
Cathepsin K (Clone EPR19992) Demonstrates Uniformly Positive Immunoreactivity in Renal Oncocytoma, Chromophobe Renal Cell Carcinoma, and Distal Tubules. 61
33764165 2021
3
Coexistence of Conventional Leiomyoma, Fumarate Hydratase-deficient Atypical Leiomyoma, and Perivascular Epithelioid Cell Tumor in a Uterus: A Case Study. 61
32265359 2021
4
Perirenal perivascular epithelioid cell tumor (PEComa). 61
33634735 2021
5
Cytopathology of extra-renal perivascular epithelioid cell tumor (PEComa): a series of 7 cases and review of the literature. 61
33162379 2021
6
Malignant Subcutaneous Perivascular Epithelioid Cell Tumor of Anterior Abdominal Wall. 61
33768970 2021
7
[Pathological diagnosis and new progress of perivascular epithelioid cell tumor]. 61
33677902 2021
8
Abdominal perivascular epithelioid cell tumor (PEComa) without visible fat: a clinicopathologic and radiological analysis of 16 cases. 61
32562157 2021
9
[Perivascular epithelioid cell tumor (PEComa) of intestine: a clinicopathological analysis of three cases]. 61
33535308 2021
10
18F-FDG PET/CT for Monitoring of Disease Progression in Metastatic Perivascular Epithelioid Cell Tumor. 61
33315683 2021
11
Primary perivascular epithelioid cell tumor (PEComa) in bone: A review of the literature and a case arising in the humerus with multiple metastases. 61
33240785 2021
12
[Uterine malignant perivascular epithelioid cell tumor (PEComa): Two case reports]. 61
32646778 2021
13
A Tale of 2 Morphologies: Diagnostic Pitfalls in TFEB-Associated Renal Cell Carcinomas, Including a Novel NEAT1-TFEB Fusion. 61
32886007 2021
14
Primary myxoid and epithelioid mesenchymal tumor of the kidney with a novel GLI1-FOXO4 fusion. 61
33159395 2021
15
Histopathologic Characterization of Bladder Perivascular Epithelioid Cell Neoplasms (PEComa): A Series of 11 Cases With a Subset Having TFE3 Rearrangements. 61
33002920 2021
16
Bladder perivascular epithelioid cell neoplasm: The importance of immunohistochemistry in the diagnosis of an unusual neoplasm. 61
33786188 2021
17
A Retrospective Case Study of 13 Uterine Perivascular Epithelioid Cell Neoplasm (PEComa) Patients. 61
33727828 2021
18
[A Resected Case of Angiomyolipoma Difficult to Be Distinguished from Hepatocellular Carcinoma]. 61
33468848 2020
19
Uterine rupture: an unusual presentation of a uterine perivascular epithelioid cell tumor (PEComa). 61
32763950 2020
20
Perivascular Epithelioid Cell Tumor of Urinary Bladder. 61
33336255 2020
21
PNL2: A Useful Adjunct Biomarker to HMB45 in the Diagnosis of Uterine Perivascular Epithelioid Cell Tumor (PEComa). 61
31851063 2020
22
Simultaneous diagnosis of liver PEComa in a family with known Li-Fraumeni syndrome: a case report. 61
33292569 2020
23
Uterine PEComa initially misdiagnosed as a leiomyoma: Sonographic findings and review of the literature. 61
33197067 2020
24
Thrombosed orbital arteriovenous malformation in a patient with lymphangioleiomyomatosis. 61
33161819 2020
25
A Curious Case of Colonic Perivascular Epithelioid Cell Tumor: A Unique Diagnosis With Variable Presentations. 61
33251071 2020
26
Perivascular epithelioid cell tumor (PEComa) of the kidney: an overview of its management and outcomes. 61
33070694 2020
27
18F-Fluorodeoxyglucose Positron Emission Tomography-Computed Tomography in Response Assessment of Perivascular Epithelioid Cell Tumor of the Pelvic Cavity to Irinotecan and Temozolomide. 61
33642765 2020
28
TFE3-expressing malignant perivascular epithelioid cell tumor of the mesentery: A case report and review of literature. 61
33024780 2020
29
Ultrasound Features of a Uterine Perivascular Epithelioid Cell Tumor (PEComa): Case Report and Literature Review. 61
32756336 2020
30
[Laparoscopic Hepatic Resection for a Hepatic Perivascular Epithelioid Cell Tumor-A Case Report]. 61
32829361 2020
31
Clinical features of 18 perivascular epithelioid cell tumor cases. 61
32846779 2020
32
Malignant melanotic Xp11 neoplasms exhibit a clinicopathologic spectrum and gene expression profiling akin to alveolar soft part sarcoma: a proposal for reclassification. 61
32418203 2020
33
Cardiac Perivascular Epithelioid Cell Tumor: Report of a Child and Review of the Literature. 61
28415905 2020
34
A surgical case of primary perivascular epithelioid cell tumor of the heart. 61
32484981 2020
35
Ocular PEComas are frequently melanotic and TFE3-translocated: report of two cases including the first description of PRCC-TFE3 fusion in PEComa. 61
32676967 2020
36
Perivascular Epithelioid Cell Tumor of the Urinary Bladder: A Systematic Review. 61
31865807 2020
37
Maintenance of Stable Disease in Metastatic Perivascular Epithelioid Cell Tumor of the Liver With Single-Agent Sorafenib. 61
32516142 2020
38
Uterine PEComa with aggressive behavior: A review with an additional case of spontaneous vaginal expulsion. 61
32527449 2020
39
Complexity of PEComas : Diagnostic approach, molecular background, clinical management. 61
31309284 2020
40
Cutaneous "fibroma-like" perivascular epithelioid cell tumor: A case report and review of literature. 61
31943330 2020
41
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
42
Ultrasound appearance of Perivascular Epithelioid Cell tumor (PEComa). 61
32337799 2020
43
Perivascular epithelioid cell tumor (PEComa) of the pterygopalatine fossa. 61
32185058 2020
44
Imaging hepatic angiomyolipomas: key features and avoiding errors. 61
31677881 2020
45
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
46
Characterization of Clinical Cases of Malignant PEComa via Comprehensive Genomic Profiling of DNA and RNA. 61
32966992 2020
47
Hepatic PEcoma: an unusual tumor in an infrequent location. 61
32116329 2020
48
Malignant perivascular epithelioid cell tumor mimicking jugular foramen schwannoma: A case report and literature review. 61
32042962 2020
49
A rare case of perivascular epithelioid cell tumor (PEComa) of the pancreas diagnosed by endoscopic ultrasound. 61
31921981 2020
50
[Xp11 neoplasma with melanocytic differentiation: a clinicopathological analysis]. 61
31818068 2019

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 11.51 VIM MUC1 DES CALD1 ACTC1
2 10.99 VIM DES 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 VIM TSC2 TFE3 PGR MUC1 MME

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

# Name GO ID Score Top Affiliating Genes
1 replicative senescence GO:0090399 9.37 MME CDKN2A
2 regulation of osteoclast differentiation GO:0045670 9.32 TFE3 MITF
3 positive regulation of phospholipase C activity GO:0010863 9.26 NTRK3 KIT
4 positive regulation of gene expression GO:0010628 9.17 VIM NTRK3 NKX2-1 MITF KIT CDKN2A
5 somatic stem cell division GO:0048103 9.16 KIT CDKN2A
6 muscle filament sliding GO:0030049 9.13 VIM DES ACTC1

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

# Name GO ID Score Top Affiliating Genes
1 p53 binding GO:0002039 8.8 NTRK3 MUC1 CDKN2A

Sources for Perivascular Epithelioid Cell Tumor

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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