MCID: PRV003
MIFTS: 39

Perivascular Epithelioid Cell Tumor malady

Categories: Cardiovascular diseases, Cancer diseases

Aliases & Classifications for Perivascular Epithelioid Cell Tumor

Aliases & Descriptions for Perivascular Epithelioid Cell Tumor:

Name: Perivascular Epithelioid Cell Tumor 12 14
Perivascular Epithelioid Cell Neoplasms 42 69
Neoplasm with Perivascular Epithelioid Cell Differentiation 12
Pecoma 12

Classifications:



External Ids:

Disease Ontology 12 DOID:2643
MeSH 42 D054973
NCIt 47 C38150
SNOMED-CT 64 388601000
UMLS 69 C1300127

Summaries for Perivascular Epithelioid Cell Tumor

MalaCards based summary : Perivascular Epithelioid Cell Tumor, also known as perivascular epithelioid cell neoplasms, is related to gastrointestinal stromal tumor and uterus perivascular epithelioid cell tumor. An important gene associated with Perivascular Epithelioid Cell Tumor is TSC2 (Tuberous Sclerosis 2), and among its related pathways/superpathways are Cytoskeletal Signaling and Aurora B signaling. The drugs Everolimus and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include uterus, liver and colon, and related phenotypes are cardiovascular system and muscle

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 236)
id Related Disease Score Top Affiliating Genes
1 gastrointestinal stromal tumor 29.6 ACTC1 DES KIT SYP VIM
2 uterus perivascular epithelioid cell tumor 12.1
3 hepatitis 10.3
4 oral erosive lichen 10.3 ACTC1 DES
5 lymphomatoid papulosis 10.3 ACTC1 VIM
6 chest wall parachordoma 10.3 ACTC1 VIM
7 isolated anterior cervical hypertrichosis 10.3 ACTC1 VIM
8 inflammatory linear verrucous epidermal nevus 10.3 DES VIM
9 mucinous cystadenocarcinoma 10.3 ACTC1 MUC1
10 invasive malignant thymoma 10.3 DES MUC1
11 ovarian cystadenoma 10.3 DES MUC1
12 cavernous sinus meningioma 10.3 DES VIM
13 house allergic alveolitis 10.3 ACTC1 DES
14 immunodeficiency due to a classical component pathway complement deficiency 10.3 MUC1 VIM
15 postgerminal center chronic lymphocytic leukemia/small lymphocytic lymphoma 10.2 MUC1 VIM
16 subglottis verrucous carcinoma 10.2 MUC1 VIM
17 clear cell ependymoma 10.2 MUC1 VIM
18 sternum cancer 10.2 MUC1 VIM
19 avian influenza 10.2 MUC1 VIM
20 polydactyly cleft lip palate psychomotor retardation 10.2 DES MUC1
21 vulvar angiokeratoma 10.2 MUC1 VIM
22 progeria 10.2 MUC1 VIM
23 skin glomus tumor 10.2 DES VIM
24 testis sarcoma 10.2 DES KIT
25 pseudohermaphrodism anorectal anomalies 10.2 DES MUC1
26 tinea favosa 10.2 ACTC1 DES
27 intracranial sinus thrombosis 10.2 KIT VIM
28 appendix mucinous cystadenocarcinoma 10.2 MUC1 VIM
29 jejunal neuroendocrine tumor 10.2 SYP VIM
30 myxopapillary ependymoma 10.2 SYP VIM
31 adult central nervous system primitive neuroectodermal neoplasm 10.2 SYP VIM
32 nephrogenic adenoma of urinary bladder 10.2 SYP VIM
33 chondroblastoma 10.2 MUC1 VIM
34 invasive mole 10.2 KIT MUC1
35 skeletal-extraskeletal angiomatosis 10.2 MUC1 SYP
36 prolactin producing pituitary tumor 10.2 MUC1 SYP
37 bone deterioration disease 10.2 DES SYP
38 pericardium leiomyoma 10.2 ACTC1 PGR
39 hydrarthrosis 10.2 ACTC1 PGR
40 subependymal glioma 10.2 MUC1 VIM
41 corneal intraepithelial neoplasm 10.2 MUC1 SYP
42 exudative glomerulonephritis 10.2 DES SYP
43 13q12.3 microdeletion syndrome 10.2 ACTC1 DES VIM
44 malignant epithelial mesothelioma 10.2 KIT MUC1
45 alcohol-induced mental disorder 10.2 KIT VIM
46 osteomyelitis 10.2 ACTC1 DES VIM
47 congenital myasthenic syndrome 10.2 ACTC1 DES VIM
48 malignant dermis tumor 10.2 ACTC1 DES VIM
49 urethral cancer 10.2 ACTC1 DES VIM
50 intestinal obstruction 10.2 ACTC1 DES VIM

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:

44
id Description MGI Source Accession Score Top Affiliating Genes
1 cardiovascular system MP:0005385 9.43 ACTC1 DES KIT PGR TSC2 VIM
2 muscle MP:0005369 9.02 ACTC1 DES KIT PGR VIM

Drugs & Therapeutics for Perivascular Epithelioid Cell Tumor

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

(show top 50) (show all 76)
id Name Status Phase Clinical Trials Cas Number PubChem Id
1
Everolimus Approved Phase 4,Phase 3,Phase 2,Phase 1 159351-69-6 6442177
2
Miconazole Approved, Investigational, Vet_approved Phase 4,Phase 3,Phase 2,Phase 1 22916-47-8 4189
3
Sirolimus Approved, Investigational Phase 4,Phase 3,Phase 2,Phase 1 53123-88-9 5284616 6436030 46835353
4
Doxycycline Approved, Investigational, Vet_approved Phase 4 564-25-0 54671203
5 Anti-Bacterial Agents Phase 4,Phase 3,Phase 2,Phase 1
6 Anti-Infective Agents Phase 4,Phase 3,Phase 2,Phase 1
7 Antibiotics, Antitubercular Phase 4,Phase 3,Phase 2,Phase 1
8 Antifungal Agents Phase 4,Phase 3,Phase 2,Phase 1
9 Immunosuppressive Agents Phase 4,Phase 3,Phase 2,Phase 1
10 Antimalarials Phase 4,Phase 1
11 Antiparasitic Agents Phase 4,Phase 1
12 Antiprotozoal Agents Phase 4,Phase 1
13
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
14
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
15
Ifosfamide Approved Phase 2, Phase 3 3778-73-2 3690
16
Mechlorethamine Approved Phase 2, Phase 3 51-75-2 4033
17
Trabectedin Approved, Investigational Phase 3 114899-77-3 108150
18
Doxil Approved June 1999 Phase 2, Phase 3 31703
19 Alkylating Agents Phase 2, Phase 3
20 Antineoplastic Agents, Alkylating Phase 2, Phase 3
21 Isophosphamide mustard Phase 2, Phase 3
22 Topoisomerase Inhibitors Phase 2, Phase 3
23
Propranolol Approved, Investigational Phase 2 525-66-6 4946
24
Octreotide Approved, Investigational Phase 2 83150-76-9 383414 6400441
25
Somatostatin Approved Phase 2 38916-34-6, 51110-01-1 53481605
26
Letrozole Approved, Investigational Phase 2 112809-51-5 3902
27
Menthol Approved Phase 2 2216-51-5 16666
28
Celecoxib Approved, Investigational Phase 2 169590-42-5 2662
29
Nintedanib Approved Phase 2 656247-17-5 56843413
30
Simvastatin Approved Phase 1, Phase 2 79902-63-9 54454
31 Adrenergic Agents Phase 2
32 Adrenergic Antagonists Phase 2
33 Adrenergic beta-Antagonists Phase 2
34 Angiogenesis Inhibitors Phase 2
35 Anti-Arrhythmia Agents Phase 2
36 Antihypertensive Agents Phase 2
37 Neurotransmitter Agents Phase 2
38 Vasodilator Agents Phase 2
39 Antineoplastic Agents, Hormonal Phase 2
40 Gastrointestinal Agents Phase 2
41 Aromatase Inhibitors Phase 2
42 Estrogen Antagonists Phase 2
43 Estrogens Phase 2
44 Hormone Antagonists Phase 2
45 Hormones Phase 2
46 Hormones, Hormone Substitutes, and Hormone Antagonists Phase 2
47 Steroid Synthesis Inhibitors Phase 2
48 Antirheumatic Agents Phase 2,Phase 1
49
saracatinib Phase 2,Phase 1
50 Analgesics Phase 2

Interventional clinical trials:

(show all 41)
id Name Status NCT ID Phase
1 Doxycycline In Lymphangioleiomyomatosis (LAM) Completed NCT00989742 Phase 4
2 Rapamycin In Angiomyolipomas In Patients With Tuberous Sclerosis Completed NCT01217125 Phase 4
3 Efficacy and Safety of Sirolimus for Treating Lymphangioleiomyomatosis (LAM) Unknown status NCT00414648 Phase 3
4 Efficacy and Safety of RAD001 in Patients Aged 18 and Over With Angiomyolipoma Associated With Either Tuberous Sclerosis Complex (TSC) or Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00790400 Phase 3
5 Radiation Therapy With or Without Combination Chemotherapy or Pazopanib Hydrochloride Before Surgery in Treating Patients With Newly Diagnosed Non-Rhabdomyosarcoma Soft Tissue Sarcomas That Can Be Removed by Surgery Recruiting NCT02180867 Phase 2, Phase 3
6 Trabectedin Maintenance Post 1st-line in STS Not yet recruiting NCT02929394 Phase 3
7 Multicenter Interventional Lymphangioleiomyomatosis (LAM) Early Disease Trial Not yet recruiting NCT03150914 Phase 3
8 Sirolimus in Treating Patients With Angiomyolipoma of the Kidney Unknown status NCT00126672 Phase 2
9 Trial of Efficacy and Safety of Sirolimus in Tuberous Sclerosis and LAM Unknown status NCT00490789 Phase 2
10 Treatment of Renal Angiomyolipomas in Tuberous Sclerosis by Beta-blockers Unknown status NCT02104011 Phase 2
11 Treatment With Octreotide in Patients With Lymphangioleiomyomatosis Completed NCT00005906 Phase 2
12 Trial of Aromatase Inhibition in Lymphangioleiomyomatosis Completed NCT01353209 Phase 2
13 A Study to Determine the Effectiveness of Escalating Doses of RAD001 (Everolimus) in Patients With Lymphangioleiomyomatosis Completed NCT01059318 Phase 2
14 Long Term Follow Up for RAD001 Therapy of Angiomyolipomata in Patients With Tuberous Sclerosis (TSC) and Sporadic Lymphangioleiomyomatosis (LAM) Completed NCT00792766 Phase 1, Phase 2
15 RAD001 Therapy of Angiomyolipomata in Patients With TS Complex and Sporadic LAM Completed NCT00457964 Phase 1, Phase 2
16 Rapamycin Therapy for Patients With Tuberous Sclerosis Complex and Sporadic LAM Completed NCT00457808 Phase 2
17 A Phase 2 Study of ABI-009 in Patients With Advanced Malignant PEComa Recruiting NCT02494570 Phase 2
18 Sporadic Angiomyolipomas (AMLs) Growth Kinetics While on Everolimus Recruiting NCT02539459 Phase 2
19 COLA: A Pilot Clinical Trial of COX-2 Inhibition in LAM and TSC Recruiting NCT02484664 Phase 2
20 A Study of Nintedanib for LymphAngioleioMyomatosis (LAM) Recruiting NCT03062943 Phase 2
21 Safety and Efficacy of Saracatinib In Subjects With Lymphangioleiomyomatosis Recruiting NCT02737202 Phase 2
22 Nebulized or Inhaled Albuterol for Lymphangioleiomyomatosis Recruiting NCT01799538 Phase 2
23 Safety of Simvastatin in LAM and TSC Recruiting NCT02061397 Phase 1, Phase 2
24 LAM Pilot Study With Imatinib Mesylate Not yet recruiting NCT03131999 Phase 1, Phase 2
25 A Phase II Study of Orally Administered BEZ235 Monotherapy in Patients With Metastatic or Unresectable Malignant PEComa Withdrawn NCT01690871 Phase 2
26 The Tolerability of Saracatinib in Subjects With Lymphangioleiomyomatosis (LAM) (SLAM-1) Completed NCT02116712 Phase 1
27 Safety Study of Sirolimus and Hydroxychloroquine in Women With Lymphangioleiomyomatosis Completed NCT01687179 Phase 1
28 Evaluation of New Biomarkers Predictive of Efficacy Betablockers in PEComa and Vascular Pediatric Tumors Completed NCT02334930
29 Effect of Fasting on the Size of Abdominal Lymphatic Tumors in Women Completed NCT00552955
30 Official Record of Patients Diagnosed With Lymphangioleiomyomatosis (LAM) Completed NCT00001869
31 Pulmonary Rehabilitation in Lymphangioleiomyomatosis Completed NCT02009241
32 Lymphangioleiomyomatosis (LAM) Registry Completed NCT00005486
33 Role of Helicobacter Pylori and Its Toxins in Lung and Digestive System Diseases Completed NCT00366509
34 Pulmonary Hypertension in Lymphangioleiomyomatosis Completed NCT00960895
35 Characterization of Patients With Tuberous Sclerosis Complex, Lymphangioleiomyomatosis and Angiomyolipoma Recruiting NCT02325505
36 Lymphatic Anomalies Registry Recruiting NCT02399527
37 Safety and Durability of Sirolimus for Treatment of LAM Recruiting NCT02432560
38 National Lymphangioleiomyomatosis Registry, France Recruiting NCT01484236
39 Study of the Disease Process of Lymphangioleiomyomatosis Recruiting NCT00001465
40 Clinical Presentation and Renal Outcome of Patients With Tuberous Sclerosis Complex and/or Renal Angiomyolipoma in the Great West Region of France Recruiting NCT02887781
41 The Effect of Lt to Rt Shunt Using Veno-veno-arterial Extracorporeal Membrane Oxygenation (ECMO) on Coronary Oxygenation in Lung Transplantation Patients Recruiting NCT02859194

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:

39
Uterus, Liver, Colon, Cervix, Lung, Kidney, Pancreas

Publications for Perivascular Epithelioid Cell Tumor

Articles related to Perivascular Epithelioid Cell Tumor:

(show top 50) (show all 173)
id Title Authors Year
1
A systematic review: perivascular epithelioid cell tumor of gastrointestinal tract. ( 27428182 )
2016
2
Pigmented perivascular epithelioid cell tumor (PEComa) arising from kidney: A case report. ( 27858882 )
2016
3
Intrahepatic peribiliary perivascular epithelioid cell tumor (PEComa) associated with heterotopic pancreas: A case report. ( 27542598 )
2016
4
Perivascular epithelioid cell tumor of the ileum. A case report. ( 26900883 )
2016
5
Primary Perivascular Epithelioid Cell Tumor (PEComa) of the Bladder: A Case Report With 2-Years of Follow-Up and Review of Current Literature. ( 27793610 )
2016
6
Hepatic perivascular epithelioid cell tumor in three patients. ( 27919857 )
2016
7
Pancreatic perivascular epithelioid cell tumor: A case report with clinicopathological features and a literature review. ( 27053862 )
2016
8
Broad Ligament Perivascular Epithelioid Cell Tumor (PEComa) of Uncertain Malignant Potential. ( 26832182 )
2016
9
Sclerosing Perivascular Epithelioid Cell Tumor of the Lung: A Case Report with Cytologic Findings. ( 27068025 )
2016
10
Perivascular Epithelioid Cell Tumor (PEComa) of Pancreas Diagnosed Preoperatively by Endoscopic Ultrasound-Guided Fine-Needle Aspiration: A Case Report and Review of Literature. ( 27628738 )
2016
11
Perivascular epithelioid cell tumor of the uterus: Report of two cases and mini-review of the literature. ( 27689526 )
2016
12
Hepatic perivascular epithelioid cell tumor: Case report and brief literature review. ( 28002331 )
2016
13
Cutaneous Perivascular Epithelioid Cell Tumor of Gynecologic Origin Metastatic to Skin, Lung, Stomach, and Brain. ( 27149334 )
2016
14
Treatment of Advanced Malignant Uterine Perivascular Epithelioid Cell Tumor with mTOR Inhibitors: Single-institution Experience and Review of the Literature. ( 27793946 )
2016
15
Perivascular Epithelioid Cell Tumor of the Uterus with Ovarian Involvement: A Case Report and Review of the Literature. ( 27150246 )
2016
16
Perivascular epithelioid cell tumor of the descending colon mimicking a gastrointestinal stromal tumor: a case report. ( 27842558 )
2016
17
Perivascular Epithelioid Cell Tumor Masquerading as Retained Placenta. ( 26206840 )
2015
18
Perivascular epithelioid cell tumor of gastrointestinal tract: case report and review of the literature. ( 25621681 )
2015
19
Perivascular Epithelioid Cell Tumor of the Liver. ( 26350655 )
2015
20
HMB-45 negative multifocal malignant perivascular epithelioid cell tumor of the soft tissue responding to sirolimus: First case report from India. ( 26881640 )
2015
21
Pigmented Perivascular Epithelioid Cell Tumor of the Skin: First Case Report. ( 26355762 )
2015
22
Improving recognition of hepatic perivascular epithelioid cell tumor: Case report and literature review. ( 25954119 )
2015
23
Malignant perivascular epithelioid cell tumor (PEComa) of the femur: a case report and literature review. ( 26022435 )
2015
24
A recurrent perivascular epithelioid cell tumor of sigmoid colon with pancreatic metastasis: an extremely rare case report and review of the literature. ( 26567117 )
2015
25
Perivascular epithelioid cell tumor of the uterine cervix identified on a conventional cervical smear. ( 26390283 )
2015
26
Coincidence between malignant perivascular epithelioid cell tumor arising in the gastric serosa and lung adenocarcinoma. ( 25632212 )
2015
27
Malignant perivascular epithelioid cell tumor arising in the mesentery: A case report. ( 26137038 )
2015
28
Perivascular Epithelioid Cell Tumor of the Liver. ( 26601751 )
2015
29
Malignant hepatic perivascular epithelioid cell tumor (PEComa) - Case report and a brief review. ( 26071321 )
2015
30
Hepatic perivascular epithelioid cell tumor: five case reports and literature review. ( 25554668 )
2015
31
Malignant Perivascular Epithelioid Cell Tumor (PEComa) of the Adrenal Gland: Report of a Rare Case Posing Diagnostic Challenge with the Role of Immunohistochemistry in the Diagnosis. ( 25724713 )
2015
32
Ruptured pericardial perivascular epithelioid cell tumor (PEComa) leading to sudden death: an autopsy case report and review of the literature. ( 26386746 )
2015
33
PSF/SFPQ is a very common gene fusion partner in TFE3 rearrangement-associated perivascular epithelioid cell tumors (PEComas) and melanotic Xp11 translocation renal cancers: clinicopathologic, immunohistochemical, and molecular characteristics suggesting classification as a distinct entity. ( 26274027 )
2015
34
Perivascular epithelioid cell tumor in the duodenum: challenge in differential diagnosis. ( 26339433 )
2015
35
Hepatic perivascular epithelioid cell tumor: An atypical angioma? ( 25287780 )
2014
36
Perivascular epithelioid cell tumor of the uterus. ( 24698426 )
2014
37
Primary cutaneous perivascular epithelioid cell tumor: A clinicopathological and molecular reappraisal. ( 25267378 )
2014
38
Perivascular Epithelioid Cell Tumor (PEComa) of the Uterine Cervix in a Patient with Tuberous Sclerosis Complex: A Literature Review. ( 25110244 )
2014
39
Cutaneous metastasis of a perivascular epithelioid cell tumor. ( 24818188 )
2014
40
Metastatic perivascular epithelioid cell tumor responding to mammalian target of rapamycin inhibition. ( 25006296 )
2014
41
Perivascular epithelioid cell tumor (PEComa) of the urinary bladder associated with Xp11 translocation. ( 24695481 )
2014
42
Fertility sparing treatment of a malignant uterine perivascular epithelioid cell tumor: A case report. ( 24567888 )
2014
43
Renal sclerosing perivascular epithelioid cell tumor (PEComa)/angiomyolipoma with extensive rhabdoid cell features. ( 24888780 )
2014
44
Perivascular epithelioid cell tumor (PEComa) with TFE3 gene rearrangement: Clinicopathological, immunohistochemical, and molecular features. ( 25239799 )
2014
45
Primary perivascular epithelioid cell tumor of the liver: new case report and literature review. ( 25034830 )
2014
46
Malignant perivascular epithelioid cell tumor of the kidney with rare pulmonary and ileum metastases. ( 25337291 )
2014
47
Perivascular epithelioid cell tumor (PEC-ome) of the prostate: ultrasound feature in case report. ( 25641481 )
2014
48
Bone metastases from bladder perivascular epithelioid cell tumor - an unusual localization of a rare tumor: a case report. ( 24965209 )
2014
49
Neoadjuvant sirolimus for a large hepatic perivascular epithelioid cell tumor (PEComa). ( 24575738 )
2014
50
Perivascular epithelioid cell tumor of the rectum: report of a case and review of the literature. ( 24410788 )
2014

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:

id Super pathways Score Top Affiliating Genes
1 11.74 ACTC1 DES MUC1 VIM
2
Show member pathways
10.81 DES VIM
3 10.66 ACTC1 DES VIM

GO Terms for Perivascular Epithelioid Cell Tumor

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

id Name GO ID Score Top Affiliating Genes
1 neuron projection terminus GO:0044306 8.62 MME SYP

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

id Name GO ID Score Top Affiliating Genes
1 intermediate filament organization GO:0045109 8.96 DES VIM
2 muscle filament sliding GO:0030049 8.8 ACTC1 DES VIM

Sources for Perivascular Epithelioid Cell Tumor

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
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