ASPS
MCID: ALV005
MIFTS: 61

Alveolar Soft Part Sarcoma (ASPS)

Categories: Cancer diseases, Genetic diseases, Muscle diseases, Rare diseases

Aliases & Classifications for Alveolar Soft Part Sarcoma

MalaCards integrated aliases for Alveolar Soft Part Sarcoma:

Name: Alveolar Soft Part Sarcoma 56 12 74 52 58 36 29 15 17 71
Asps 56 52 58
Sarcoma, Alveolar Soft Part 43 39
Alveolar Soft-Part Sarcoma 56 13
Childhood Alveolar Soft-Part Sarcoma 71
Adult Alveolar Soft-Part Sarcoma 71
Alveolar Soft Tissue Sarcoma 58
Sarcoma Alveolar Soft Part 54

Characteristics:

Orphanet epidemiological data:

58
alveolar soft tissue sarcoma
Age of onset: All ages;

HPO:

31
alveolar soft part sarcoma:
Inheritance somatic mutation


Classifications:



External Ids:

Disease Ontology 12 DOID:4239
OMIM 56 606243
KEGG 36 H00051
MeSH 43 D018234
SNOMED-CT 67 88195001
MESH via Orphanet 44 D018234
ICD10 via Orphanet 33 C49.9
UMLS via Orphanet 72 C0206657
Orphanet 58 ORPHA163699
MedGen 41 C0206657
SNOMED-CT via HPO 68 124975008 404056007
UMLS 71 C0206657 C0279544 C0279985

Summaries for Alveolar Soft Part Sarcoma

NIH Rare Diseases : 52 Alveolar soft part sarcoma (ASPS) is a rare, slow-growing soft tissue sarcoma . Although it has been described in a variety of locations, it most commonly develops on the lower extremities in adults and in the head and neck region of children. ASPS generally presents as a soft, pain-less lump that is often not associated with any additional signs and symptoms. In many cases, the condition is not diagnosed until the affected person develops symptoms of metastasis to other sites such as the lungs, bones, central nervous system and/or liver. The underlying cause of ASPS is poorly understood. Most cases occur sporadically in people with no family history of the condition. ASPS is generally treated with surgery; radiation therapy and/or chemotherapy may be considered if the tumor returns.

MalaCards based summary : Alveolar Soft Part Sarcoma, also known as asps, is related to spindle cell sarcoma and rare tumor. An important gene associated with Alveolar Soft Part Sarcoma is ASPSCR1 (ASPSCR1 Tether For SLC2A4, UBX Domain Containing), and among its related pathways/superpathways are Transcriptional misregulation in cancer and Developmental Biology. The drugs Procaine and Penicillin G have been mentioned in the context of this disorder. Affiliated tissues include lung, bone and testes, and related phenotypes are alveolar soft part sarcoma and Increased shRNA abundance (Z-score > 2)

Disease Ontology : 12 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.

OMIM : 56 Alveolar soft part sarcoma is an unusual tumor with highly characteristic histopathology and ultrastructure, controversial histogenesis, and enigmatic clinical behavior (Lieberman et al., 1989; Ordonez, 1999). The typical histology of ASPS shows well-defined nests of cells with abundant pink cytoplasm. The loss of central cohesion produces a pseudoalveolar appearance (Ladanyi et al., 2001). (606243)

KEGG : 36 Alveolar soft part sarcoma (ASPS) is a rare, histologically distinctive soft-tissue sarcoma typically occurring in children and young adults. Although it displays a relatively indolent clinical course, the ultimate prognosis is poor and is often characterised by late metastases. ASPS is characterised by an unbalanced translocation: der(17)t(X:17)(p11;q25). This translocation causes the fusion of the TEF3 (transcription factor binding to IGHM enhancer 3) with a novel gene at 17q25, named ASPL. Translocation between chromosomes X and 17 is seen in all the tested cases, implicating transcriptional deregulation in the pathogenesis of this tumor.

Wikipedia : 74 Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft-tissue sarcoma, that grows... more...

Related Diseases for Alveolar Soft Part Sarcoma

Diseases related to Alveolar Soft Part Sarcoma via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 330)
# Related Disease Score Top Affiliating Genes
1 spindle cell sarcoma 32.8 VIM MYOG DES
2 rare tumor 31.9 RET DES
3 renal cell carcinoma, xp11-associated 31.5 TFE3 ASPSCR1
4 myoblastoma 31.4 MYOG ENO2
5 sarcoma 31.3 VIM TFE3 RET PDGFRB MYOG MYOD1
6 granular cell tumor 31.3 VIM SYP ENO2 DES
7 hemangioma 31.1 SYP RET MTOR ENO2
8 epithelioid sarcoma 31.1 VIM SYP EGFR
9 clear cell sarcoma 31.1 TFE3 SYP ENO2
10 malignant mesenchymoma 31.1 MYOG MYOD1 MB DES
11 perivascular epithelioid cell tumor 30.9 VIM TFE3 SYP DES
12 meningioma, familial 30.9 SYP RET ENO2 EGFR
13 malignant granular cell myoblastoma 30.9 MB ENO2
14 vascular cancer 30.8 TFE3 SYP PDGFRB MYOG
15 small cell carcinoma 30.7 SYP ENO2 EGFR
16 chordoma 30.4 VIM PDGFRB MTOR MET EGFR DES
17 renal cell carcinoma, nonpapillary 30.4 VIM TFE3 RET PDGFRB MTOR MET
18 renal cell carcinoma, papillary, 1 30.2 TFE3 RET MTOR MET EGFR ASPSCR1
19 gastrointestinal stromal tumor 30.1 VIM SYP PDGFRB ENO2 EGFR DES
20 adenocarcinoma 30.1 RET PDGFRB MLH1 MET EGFR
21 rhabdomyosarcoma 2 30.0 TFE3 SYP MYOG MYOD1 MYF5 MB
22 leiomyosarcoma 30.0 VIM PDGFRB MYOG MTOR MB ENO2
23 neuroblastoma 29.8 SYP RET PDGFRB MTOR MET ENO2
24 glioblastoma multiforme 29.7 TCF3 SYP PDGFRB MTOR MLH1 MET
25 rhabdomyosarcoma 29.7 VIM SYP PDGFRB MYOG MYOD1 MYF5
26 medulloblastoma 29.1 VIM SYP RET PDGFRB MYOG MYOD1
27 cervical alveolar soft part sarcoma 12.9
28 vulvar alveolar soft part sarcoma 12.9
29 soft tissue sarcoma 11.4
30 infantile digital fibromatosis 10.7 VIM DES
31 giant cell myocarditis 10.7 MB DES
32 lymphangiomatosis 10.7 VIM DES
33 rare soft tissue tumor 10.7
34 neurohypophysis granular cell tumor 10.7 VIM ENO2
35 orbit rhabdomyosarcoma 10.6 MYOG MB
36 malignant sertoli-leydig cell tumor 10.6 MYOG MYOD1
37 ewing sarcoma of bone 10.6 VIM DES
38 bednar tumor 10.6 VIM ENO2
39 malignant melanocytic neoplasm of the peripheral nerve sheath 10.6 SYP ENO2
40 myocardium cancer 10.6 SYP MYOG
41 malignant fibrous histiocytoma of bone 10.6 MYOD1 DES
42 primary hepatic neuroendocrine carcinoma 10.6 VIM SYP
43 undifferentiated embryonal sarcoma of the liver 10.6 MYOG MYOD1
44 benign metastasizing leiomyoma 10.6 VIM DES
45 childhood kidney cell carcinoma 10.6 TFE3 ASPSCR1
46 ureter small cell carcinoma 10.6 SYP ENO2
47 heart lymphoma 10.6 VIM MYOG
48 anal neuroendocrine tumor 10.6 SYP ENO2
49 spindle cell thymoma 10.6 ENO2 DES
50 lung combined type small cell carcinoma 10.6 SYP MYOG

Graphical network of the top 20 diseases related to Alveolar Soft Part Sarcoma:



Diseases related to Alveolar Soft Part Sarcoma

Symptoms & Phenotypes for Alveolar Soft Part Sarcoma

Human phenotypes related to Alveolar Soft Part Sarcoma:

31
# Description HPO Frequency HPO Source Accession
1 alveolar soft part sarcoma 31 HP:0012218

Clinical features from OMIM:

606243

GenomeRNAi Phenotypes related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

26 (show all 41)
# Description GenomeRNAi Source Accession Score Top Affiliating Genes
1 Increased shRNA abundance (Z-score > 2) GR00366-A-105 10.02 MTOR VIM
2 Increased shRNA abundance (Z-score > 2) GR00366-A-107 10.02 MET
3 Increased shRNA abundance (Z-score > 2) GR00366-A-118 10.02 EGFR
4 Increased shRNA abundance (Z-score > 2) GR00366-A-120 10.02 TCF3
5 Increased shRNA abundance (Z-score > 2) GR00366-A-121 10.02 EGFR
6 Increased shRNA abundance (Z-score > 2) GR00366-A-123 10.02 TCF3
7 Increased shRNA abundance (Z-score > 2) GR00366-A-132 10.02 RET
8 Increased shRNA abundance (Z-score > 2) GR00366-A-146 10.02 VIM
9 Increased shRNA abundance (Z-score > 2) GR00366-A-149 10.02 TCF3
10 Increased shRNA abundance (Z-score > 2) GR00366-A-16 10.02 MTOR
11 Increased shRNA abundance (Z-score > 2) GR00366-A-164 10.02 MET RET
12 Increased shRNA abundance (Z-score > 2) GR00366-A-169 10.02 TCF3
13 Increased shRNA abundance (Z-score > 2) GR00366-A-173 10.02 MTOR
14 Increased shRNA abundance (Z-score > 2) GR00366-A-176 10.02 RET VIM
15 Increased shRNA abundance (Z-score > 2) GR00366-A-177 10.02 VIM
16 Increased shRNA abundance (Z-score > 2) GR00366-A-185 10.02 MET
17 Increased shRNA abundance (Z-score > 2) GR00366-A-189 10.02 MET VIM
18 Increased shRNA abundance (Z-score > 2) GR00366-A-190 10.02 EGFR VIM
19 Increased shRNA abundance (Z-score > 2) GR00366-A-191 10.02 MET TCF3
20 Increased shRNA abundance (Z-score > 2) GR00366-A-201 10.02 MET
21 Increased shRNA abundance (Z-score > 2) GR00366-A-21 10.02 EGFR
22 Increased shRNA abundance (Z-score > 2) GR00366-A-214 10.02 EGFR
23 Increased shRNA abundance (Z-score > 2) GR00366-A-25 10.02 RET
24 Increased shRNA abundance (Z-score > 2) GR00366-A-29 10.02 VIM
25 Increased shRNA abundance (Z-score > 2) GR00366-A-30 10.02 VIM
26 Increased shRNA abundance (Z-score > 2) GR00366-A-4 10.02 MET
27 Increased shRNA abundance (Z-score > 2) GR00366-A-42 10.02 MTOR
28 Increased shRNA abundance (Z-score > 2) GR00366-A-43 10.02 EGFR
29 Increased shRNA abundance (Z-score > 2) GR00366-A-52 10.02 RET
30 Increased shRNA abundance (Z-score > 2) GR00366-A-60 10.02 MTOR RET
31 Increased shRNA abundance (Z-score > 2) GR00366-A-63 10.02 MET VIM
32 Increased shRNA abundance (Z-score > 2) GR00366-A-73 10.02 MTOR RET
33 Increased shRNA abundance (Z-score > 2) GR00366-A-80 10.02 MET
34 Increased shRNA abundance (Z-score > 2) GR00366-A-83 10.02 TCF3
35 Increased shRNA abundance (Z-score > 2) GR00366-A-85 10.02 EGFR MET MTOR RET TCF3 VIM
36 Increased shRNA abundance (Z-score > 2) GR00366-A-99 10.02 TCF3
37 Decreased cell migration GR00055-A-1 9.65 EGFR MET MTOR PDGFRB VIM
38 Decreased viability with paclitaxel GR00179-A-1 9.55 EGFR MTOR
39 Decreased viability with paclitaxel GR00179-A-2 9.55 MTOR
40 Decreased viability with paclitaxel GR00179-A-3 9.55 EGFR MTOR
41 Increased cell viability after pRB stimulation GR00230-A-1 9.26 EGFR MET PDGFRB RET

MGI Mouse Phenotypes related to Alveolar Soft Part Sarcoma:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 cellular MP:0005384 10.4 ADAM9 BSG DES EGFR ENO2 MB
2 mortality/aging MP:0010768 10.36 ADAM9 BSG DES EGFR MB MET
3 homeostasis/metabolism MP:0005376 10.35 ADAM9 DES EGFR MB MET MLH1
4 growth/size/body region MP:0005378 10.34 BSG EGFR ENO2 MB MET MTOR
5 cardiovascular system MP:0005385 10.24 ADAM9 DES EGFR MB MET MTOR
6 immune system MP:0005387 10.23 ASPSCR1 BSG EGFR MET MLH1 MTOR
7 embryo MP:0005380 10.21 EGFR MB MET MTOR MYF5 MYOG
8 muscle MP:0005369 10.14 DES EGFR MB MET MTOR MYF5
9 adipose tissue MP:0005375 10.09 EGFR MTOR MYF5 MYOD1 MYOG PDGFRB
10 nervous system MP:0003631 10.06 BSG EGFR ENO2 MET MTOR MYF5
11 neoplasm MP:0002006 9.97 ADAM9 EGFR MET MLH1 MYF5 MYOD1
12 normal MP:0002873 9.93 ADAM9 EGFR MET MTOR MYF5 MYOD1
13 no phenotypic analysis MP:0003012 9.86 EGFR MET MTOR MYF5 MYOD1 MYOG
14 respiratory system MP:0005388 9.73 BSG EGFR ENO2 MB MET MLH1
15 vision/eye MP:0005391 9.28 ADAM9 BSG EGFR MET MLH1 MYF5

Drugs & Therapeutics for Alveolar Soft Part Sarcoma

Drugs for Alveolar Soft Part Sarcoma (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show top 50) (show all 108)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Procaine Approved, Investigational, Vet_approved Phase 4 59-46-1 4914
2
Penicillin G Approved, Vet_approved Phase 4 61-33-6 5904
3 Anti-Bacterial Agents Phase 4
4 Anti-Infective Agents Phase 4
5 Floxacillin Phase 4
6 penicillins Phase 4
7 Penicillin G Benzathine Phase 4
8 Penicillin G Procaine Phase 4
9
Mechlorethamine Approved, Investigational Phase 3 51-75-2 4033
10
Ifosfamide Approved Phase 3 3778-73-2 3690
11
Daunorubicin Approved Phase 2, Phase 3 20830-81-3 30323
12
Cyclophosphamide Approved, Investigational Phase 2, Phase 3 50-18-0, 6055-19-2 2907
13
Lenograstim Approved, Investigational Phase 3 135968-09-1
14
Epirubicin Approved Phase 3 56420-45-2 41867
15
Dactinomycin Approved, Investigational Phase 3 50-76-0 2019 457193
16
Vincristine Approved, Investigational Phase 3 2068-78-2, 57-22-7 5978
17
Carboplatin Approved Phase 3 41575-94-4 10339178 498142 38904
18
Etoposide Approved Phase 3 33419-42-0 36462
19
Dacarbazine Approved, Investigational Phase 3 4342-03-4 5351166
20
Doxorubicin Approved, Investigational Phase 2, Phase 3 23214-92-8 31703
21
Trabectedin Approved, Investigational Phase 2, Phase 3 114899-77-3 108150
22
Histamine Approved, Investigational Phase 3 51-45-6 774
23
Cyproheptadine Approved Phase 3 129-03-3 2913
24 Immunologic Factors Phase 3
25 Immunosuppressive Agents Phase 3
26
Isophosphamide mustard Phase 3 0
27 Antirheumatic Agents Phase 3
28 Etoposide phosphate Phase 3
29 Antimitotic Agents Phase 3
30 Antibiotics, Antitubercular Phase 2, Phase 3
31 Neurotransmitter Agents Phase 3
32 Alkylating Agents Phase 2, Phase 3
33 Topoisomerase Inhibitors Phase 2, Phase 3
34
Liposomal doxorubicin Phase 2, Phase 3 31703
35 Gastrointestinal Agents Phase 3
36 Dermatologic Agents Phase 3
37 Antipruritics Phase 3
38 Histamine H1 Antagonists Phase 3
39 Serotonin Agents Phase 3
40 Histamine Antagonists Phase 3
41
Histamine Phosphate Phase 3 51-74-1 65513
42 Serotonin Antagonists Phase 3
43 Anti-Allergic Agents Phase 3
44
Serotonin Investigational, Nutraceutical Phase 3 50-67-9 5202
45
Temozolomide Approved, Investigational Phase 2 85622-93-1 5394
46
Romidepsin Approved, Investigational Phase 2 128517-07-7 5352062
47
Dasatinib Approved, Investigational Phase 2 302962-49-8 3062316
48
Sirolimus Approved, Investigational Phase 2 53123-88-9 5284616 6436030 46835353
49
Miconazole Approved, Investigational, Vet_approved Phase 2 22916-47-8 4189
50
Everolimus Approved Phase 2 159351-69-6 6442177 70789204

Interventional clinical trials:

(show top 50) (show all 67)
# Name Status NCT ID Phase Drugs
1 Pilot Randomised Controlled Trial of Penicillin Versus Flucloxacillin for Definitive Treatment of Invasive Penicillin Susceptible Staphylococcus Aureus Not yet recruiting NCT03632642 Phase 4 Benzylpenicillin;Flucloxacillin
2 Localized Non-Rhabdomyosarcoma Soft Tissue Sarcomas Unknown status NCT00334854 Phase 3 doxorubicin hydrochloride;ifosfamide
3 Risk-Based Treatment for Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) in Patients Under 30 Years of Age Completed NCT00346164 Phase 3 doxorubicin hydrochloride;ifosfamide
4 Randomised Trial of Post-Operative Radiotherapy Given to Adult Patients With Extremity Soft Tissue Sarcoma [VORTEX] Completed NCT00423618 Phase 3
5 A Phase III Randomized Study of Preoperative Radiation Plus Surgery Versus Surgery Alone for Patients With Retroperitoneal Sarcomas (RPS) Completed NCT00091351 Phase 3
6 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) Completed NCT02180867 Phase 2, Phase 3 Doxorubicin;Doxorubicin Hydrochloride;Ifosfamide;Pazopanib;Pazopanib Hydrochloride
7 RANDOMISED TRIAL OF ADJUVANT CHEMOTHERAPY WITH HIGH-DOSE DOXORUBICIN, IFOSFAMIDE AND LENOGRASTIM IN HIGH GRADE SOFT TISSUE SARCOMA Completed NCT00002641 Phase 3 doxorubicin hydrochloride;ifosfamide;isolated perfusion
8 MMT 95 Study For Rhabdomyosarcoma and Other Malignant Soft Tissue Tumors of Childhood Completed NCT00002898 Phase 3 carboplatin;cyclophosphamide;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
9 A Phase III Study of AL3818 (Anlotinib) Hydrochloride Monotherapy in Subjects With Metastatic or Advanced Alveolar Soft Part Sarcoma, Leiomyosarcoma and Synovial Sarcoma Recruiting NCT03016819 Phase 3 AL 3818;Dacarbazine
10 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
11 TRUSTS: A Phase IIB/III Multicenter Study Comparing the Efficacy of TRabectedin Administered as a 3-Hour or 24-Hour Infusion to Doxorubicin in Patients With Advanced or Metastatic Untreated Soft Tissue Sarcoma Terminated NCT01189253 Phase 2, Phase 3 doxorubicin hydrochloride;trabectedin
12 Prevention of Cancer/Treatment-Related Weight Loss in Children at High Nutritional Risk Terminated NCT01132547 Phase 3 cyproheptadine hydrochloride
13 Phase II Evaluation of Temodal (Temozolomide, Schering) in Previously Treated Advanced Sarcomas Unknown status NCT00003718 Phase 2 temozolomide
14 Randomized Phase II Study of Brostallicin (PNU-166196A) Versus Doxorubicin as First Line Chemotherapy in Patients With Advanced or Metastatic Soft Tissue Sarcoma Unknown status NCT00410462 Phase 2 brostallicin;doxorubicin hydrochloride
15 A Phase II Study of Single Agent Depsipeptide (FK228) in Metastatic or Unresectable Soft Tissue Sarcomas Completed NCT00112463 Phase 2 romidepsin
16 A Phase 2 Study of ARQ 197 in Patients With Microphthalmia Transcription Factor Associated Tumors Completed NCT00557609 Phase 2 ARQ 197
17 A Phase II Trial of Dasatinib in Advanced Sarcomas Completed NCT00464620 Phase 2 Dasatinib
18 A Phase II Study of Cixutumumab (IMC-A12) in Combination With Temsirolimus in Pediatric Patients With Recurrent or Refractory Solid Tumors Completed NCT01614795 Phase 2 Temsirolimus
19 A Phase 1B/II Study of GDC-0449 (NSC 747691) in Combination With RO4929097, a Gamma-Secretase Inhibitor (GSI) in Advanced/Metastatic Sarcomas Completed NCT01154452 Phase 1, Phase 2 Gamma-Secretase Inhibitor RO4929097;Vismodegib
20 Phase II Study on ET-743 in Advanced Soft Tissue Sarcomas of the Adult Completed NCT00003939 Phase 2 trabectedin
21 Phase II Trial of Gleevec (Formerly Known as STI571) in Patients With Soft Tissue and Bone Sarcomas: A Multi-Disciplinary Trial of the North American Sarcoma Study Group of the Connective Tissue Oncology Society Completed NCT00031915 Phase 2 imatinib mesylate
22 A Phase II Study Of Perifosine (D-21266) In Patients With Previously Untreated Metastatic Or Locally Advanced Soft Tissue Sarcoma Completed NCT00053794 Phase 2 perifosine
23 Multicenter Parallel Phase II Trial of BI 2536 Administered as One Hour IV Infusion Every 3 Weeks in Defined Cohorts of Patients With Various Solid Tumors. A New Drug Screening Program of the EORTC Network of Core Institutions (NOCI) Completed NCT00526149 Phase 2 BI 2536
24 Dose Finding and Phase II Study of STI 571 in Advanced Soft Tissue Sarcoma Completed NCT00006357 Phase 1, Phase 2 imatinib mesylate
25 A Multicenter Phase II Study of Continuous Dosing of Sunitinib (Sutent®, SU11248) in Non-GIST Sarcomas Completed NCT00474994 Phase 2 sunitinib malate
26 MMT 98 Study For Metastatic Disease Rhabdomyosarcoma And Other Malignant Soft Tissue Sarcoma Of Childhood Completed NCT00025441 Phase 2 carboplatin;cyclophosphamide;doxorubicin hydrochloride;epirubicin hydrochloride;etoposide;ifosfamide;vincristine sulfate
27 A Phase II Trial of R1507, a Recombinant Human Monoclonal Antibody to the Insulin-Like Growth Factor-1 Receptor for the Treatment of Participants With Recurrent or Refractory Ewing's Sarcoma, Osteosarcoma, Synovial Sarcoma, Rhabdomyosarcoma and Other Sarcomas. Completed NCT00642941 Phase 2 RG1507
28 Sarcoma Alliance for Research Through Collaboration (SARC) Multicenter Trial: A Phase II Trial of Perifosine in Patients With Chemo-Insensitive Sarcomas Completed NCT00401388 Phase 2 Perifosine
29 An Open-label, Single-arm, Phase II Clinical Study of Anti-PD-1 Antibody GB226 in Treatment of Relapsed/Metastatic/Unresectable Alveolar Soft Part Sarcoma (ASPS) Recruiting NCT03623581 Phase 2
30 A Phase 2 Study of Anti-PD-L1 Antibody (Atezolizumab) in Alveolar Soft Part Sarcoma Recruiting NCT03141684 Phase 2 Atezolizumab
31 A Phase II Trial In Which Patients With Metastatic Alveolar Soft Part Sarcoma Are Randomized to Either Sunitinib or Cediranib Monotherapy, With Cross-Over at Disease Progression Recruiting NCT01391962 Phase 2 Cediranib;Sunitinib
32 Phase 2 Trial of XL184 (Cabozantinib) an Oral Small-Molecule Inhibitor of Multiple Kinases, in Children and Young Adults With Refractory Sarcomas, Wilms Tumor, and Other Rare Tumors Recruiting NCT02867592 Phase 2 Cabozantinib;Cabozantinib S-malate
33 Preoperative Hypofractionated Radiotherapy With Hyperthermia in Unresectable or Marginally Resectable Soft Tissue Sarcomas Recruiting NCT03989596 Phase 2
34 A Phase II Trial of Cediranib in the Treatment of Patients With Alveolar Soft Part Sarcoma (CASPS) Active, not recruiting NCT01337401 Phase 2 Cediranib;Placebo
35 Phase II Study of Cediranib (AZD2171) in Patients With Alveolar Soft Part Sarcoma Active, not recruiting NCT00942877 Phase 2 AZD2171
36 A Phase II Trial of Concurrent Axitinib and Pembrolizumab in Subjects With Advanced Alveolar Soft Part Sarcoma (ASPS) and Other Soft Tissue Sarcomas (STS) Active, not recruiting NCT02636725 Phase 2 Axitinib;Pembrolizumab
37 Cross-tumoral Phase 2 Clinical Trial Exploring Crizotinib (PF-02341066) in Patients With Advanced Tumors Induced by Causal Alterations of ALK and/or MET ("CREATE") Active, not recruiting NCT01524926 Phase 2 Crizotinib (PF-02341066)
38 A Randomized, Double-Blind Phase II, Study of Gemcitabine Alone or in Combination With Pazopanib for Refractory Soft Tissue Sarcoma Active, not recruiting NCT01532687 Phase 2 Gemcitabine Hydrochloride;Pazopanib Hydrochloride
39 Non-randomized Single-center Study Phase II Evaluating the Efficacy and Toxicity of Autologous Dendritic Cell Vaccine Loaded With Allogeneic Tumor Lysate Expression of Cancer Testis Antigens in Patients With Soft Tissue Sarcoma Enrolling by invitation NCT01883518 Phase 1, Phase 2
40 A Single-arm, Open, Phase II Study of Anlotinib Combined With Toripalimab in Refractory and Advanced Soft-tissue Sarcoma Not yet recruiting NCT04172805 Phase 2 anlotinib and toripalimab
41 A Phase II Trial of Pazopanib in Patients With Metastatic Alveolar Soft Part Sarcoma Terminated NCT02113826 Phase 2 Pazopanib
42 Phase II Study of Preoperative Intensity-Modulated Radiation Therapy for Soft-Tissue Sarcomas Terminated NCT00740597 Phase 2
43 Phase I Study To Determine The Safety Of Caelyx (Doxorubin HCI, Pegylated Liposomal) In Combination With Ifosfamide In Previously Untreated Adult Patients With Advanced And/Or Metastatic Soft Tissues Sarcomas Completed NCT00030784 Phase 1 ifosfamide;pegylated liposomal doxorubicin hydrochloride
44 Optimization of Enoxaparin Prophylaxis Using Real-time Anti-Factor Xa Levels in Major Reconstructive Surgery Patients Completed NCT02687204 Phase 1 Twice daily enoxaparin prophylaxis;Real time dose adjustment
45 A Phase I Trial of Vaccination With Autologous, Lethally Irradiated Tumor Cells Engineered by Adenoviral Mediated Gene Transfer to Secrete Granulocyte-Macrophage Colony Stimulating Factor in Pediatric and Adult Patients Active, not recruiting NCT00258687 Phase 1
46 A Phase I, Open-label, Multi-center Dose Escalation Study of FAZ053 as Single Agent and in Combination With PDR001 in Adult Patients With Advanced Malignancies Active, not recruiting NCT02936102 Phase 1 FAZ053;PDR001
47 A Phase I Study of the Selective Inhibitor of Nuclear Export (SINE) Selinexor in Combination With the Proteasome Inhibitor Ixazomib for the Treatment of Advanced Sarcoma Not yet recruiting NCT03880123 Phase 1 Selinexor;Ixazomib
48 Research Registry for Juvenile Arthritis Unknown status NCT00090571
49 Procurement of Blood and Tissue From Patients With Primary and Metastatic Alveolar Soft Part Sarcoma and Blood From Healthy Controls for In Vitro and In Vivo Model Development Completed NCT00340353
50 Observational - Potentially Actionable Mutations in Archived Non-Rhabdomyosarcoma Soft Tissue Sarcomas (NRSTS) Completed NCT01567046

Search NIH Clinical Center for Alveolar Soft Part Sarcoma

Cochrane evidence based reviews: sarcoma, alveolar soft part

Genetic Tests for Alveolar Soft Part Sarcoma

Genetic tests related to Alveolar Soft Part Sarcoma:

# Genetic test Affiliating Genes
1 Alveolar Soft Part Sarcoma 29 ASPSCR1

Anatomical Context for Alveolar Soft Part Sarcoma

MalaCards organs/tissues related to Alveolar Soft Part Sarcoma:

40
Lung, Bone, Testes, Breast, Liver, Brain, Tongue

Publications for Alveolar Soft Part Sarcoma

Articles related to Alveolar Soft Part Sarcoma:

(show top 50) (show all 1528)
# Title Authors PMID Year
1
The der(17)t(X;17)(p11;q25) of human alveolar soft part sarcoma fuses the TFE3 transcription factor gene to ASPL, a novel gene at 17q25. 61 56
11244503 2001
2
Chromosome rearrangement at 17q25 and xp11.2 in alveolar soft-part sarcoma: A case report and review of the literature. 61 56
10506710 1999
3
Alveolar soft part sarcoma: a review and update. 61 56
10342010 1999
4
Alveolar soft-part sarcoma. A clinico-pathologic study of half a century. 61 56
2642727 1989
5
Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma. 54 61
18176180 2008
6
Pediatric renal cell carcinomas with Xp11.2 rearrangements are immunoreactive for hMLH1 and hMSH2 proteins. 54 61
16328670 2005
7
TFE3 immunoreactivity in alveolar soft part sarcoma of the uterine cervix: case report. 54 61
15782069 2005
8
Primary alveolar soft part sarcoma (ASPS) of the breast: report of a deceptive case with xanthomatous features confirmed by TFE3 immunohistochemistry and electron microscopy. 54 61
15735860 2005
9
Alveolar soft part sarcoma on the glabella. 54 61
15081230 2004
10
Aberrant nuclear immunoreactivity for TFE3 in neoplasms with TFE3 gene fusions: a sensitive and specific immunohistochemical assay. 54 61
12766578 2003
11
Alveolar soft part sarcoma--reciprocal translocation between chromosome 17q25 and Xp11. Report of a case with metastases at presentation and review of the literature. 54 61
12769020 2003
12
Are myogenin and myoD1 expression specific for rhabdomyosarcoma? A study of 150 cases, with emphasis on spindle cell mimics. 54 61
11688574 2001
13
Immunohistochemical profile of myogenin and MyoD1 does not support skeletal muscle lineage in alveolar soft part sarcoma. 54 61
10383802 1999
14
[Alveolar soft part sarcoma: a clinicopathologic and immunohistochemical study of 13 cases]. 54 61
1452160 1992
15
MyoD1 protein expression in alveolar soft part sarcoma as confirmatory evidence of its skeletal muscle nature. 54 61
1656801 1991
16
Current status of antimicrobial stewardship programmes in Korean hospitals: results of a 2018 nationwide survey. 61
31513880 2020
17
Knowledge, attitude, and practice of health care workers towards antibiotic resistance and antimicrobial stewardship programmes: A cross-sectional study. 61
31115129 2020
18
Antibiotic decision making in surgical intensive care: a qualitative analysis. 61
31505223 2020
19
Long-term impact of an educational antimicrobial stewardship programme in primary care on infections caused by extended-spectrum β-lactamase-producing Escherichia coli in the community: an interrupted time-series analysis. 61
31767423 2020
20
Characteristics of nursing homes with comprehensive antibiotic stewardship programs: Results of a national survey. 61
31447117 2020
21
Exploring the role of infection preventionists in antimicrobial stewardship programs through several lenses: A brief report. 61
31377061 2020
22
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Alveolar soft part sarcoma mimics prostate cancer metastasis. 61
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Variations for Alveolar Soft Part Sarcoma

Cosmic variations for Alveolar Soft Part Sarcoma:

9 (show top 50) (show all 101)
# Cosmic Mut ID Gene Symbol COSMIC Disease Classification
(Primary site, Site subtype, Primary histology, Histology subtype)
Mutation CDS Mutation AA GRCh38 Location Conf
1 COSM87903333 TP53 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
2 COSM87975568 TP53 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
3 COSM93992510 SRC soft tissue,lung,sarcoma,NS c.205T>G p.S69A 20:37384358-37384358 15
4 COSM93451505 RAC1 soft tissue,lung,sarcoma,NS c.533C>T p.A178V 7:6402343-6402343 15
5 COSM101931022 PTPRD soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 15
6 COSM90842465 PTCH1 soft tissue,lung,sarcoma,NS c.2921T>G p.F974C 9:95458260-95458260 15
7 COSM87210160 PIK3CA soft tissue,lung,sarcoma,NS c.1036G>T p.V346L 3:179203766-179203766 15
8 COSM101270110 PBRM1 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 15
9 COSM98770048 PAK5 soft tissue,lung,sarcoma,NS c.41C>A p.P14Q 20:9644288-9644288 15
10 COSM87804075 KRAS soft tissue,lung,sarcoma,NS c.34G>T p.G12C 12:25245351-25245351 15
11 COSM87804055 KRAS soft tissue,lung,sarcoma,NS c.35G>T p.G12V 12:25245350-25245350 15
12 COSM112988906 HRAS soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 15
13 COSM87850803 HGF soft tissue,lung,sarcoma,NS c.1711G>T p.V571L 7:81706333-81706333 15
14 COSM95516578 H3-3A soft tissue,bone,sarcoma,NS c.103G>T p.G35W 1:226064454-226064454 15
15 COSM100583919 GPS2 soft tissue,lung,sarcoma,NS c.454C>T p.Q152* 17:7313932-7313932 15
16 COSM87494413 GNAQ soft tissue,bone,sarcoma,NS c.442C>T p.R148* 9:77815650-77815650 15
17 COSM142908710 FOXP1 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 15
18 COSM100233796 ERCC2 soft tissue,lung,sarcoma,NS c.1831+1G>T p.? 19:45353082-45353082 15
19 COSM117948203 soft tissue,lung,sarcoma,NS c.2939C>T p.A980V 9:8404587-8404587 15
20 COSM101951669 soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 15
21 COSM106841030 soft tissue,lung,sarcoma,NS c.2468T>G p.F823C 9:95458260-95458260 15
22 COSM112319175 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
23 COSM145022367 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 15
24 COSM118450453 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 15
25 COSM134990158 soft tissue,lung,sarcoma,NS c.35G>T p.G12V 12:25245350-25245350 15
26 COSM120158796 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 15
27 COSM143854306 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 15
28 COSM105721452 soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 15
29 COSM116715747 soft tissue,lung,sarcoma,NS c.74A>G p.H25R 3:71198308-71198308 15
30 COSM103461667 soft tissue,lung,sarcoma,NS c.2468T>G p.F823C 9:95458260-95458260 15
31 COSM93250304 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
32 COSM91788538 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 15
33 COSM102558626 soft tissue,lung,sarcoma,NS c.2834G>A p.R945H 3:52589201-52589201 15
34 COSM111826264 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
35 COSM112257487 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
36 COSM132326062 soft tissue,lung,sarcoma,NS c.4160C>T p.A1387V 9:8404587-8404587 15
37 COSM142840682 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
38 COSM110727009 soft tissue,lung,sarcoma,NS c.2723T>G p.F908C 9:95458260-95458260 15
39 COSM144718997 soft tissue,liver,sarcoma,NS c.242A>T p.K81M 17:7676010-7676010 15
40 COSM144313969 soft tissue,liver,sarcoma,NS c.529G>A p.V177M 17:7674885-7674885 15
41 COSM111763428 soft tissue,liver,sarcoma,NS c.646G>A p.V216M 17:7674885-7674885 15
42 COSM134990190 soft tissue,lung,sarcoma,NS c.34G>T p.G12C 12:25245351-25245351 15
43 COSM101967324 soft tissue,neck,sarcoma,NS c.37G>A p.G13S 11:534286-534286 15
44 COSM93619977 soft tissue,lung,sarcoma,NS c.2738G>A p.R913H 3:52589201-52589201 15
45 COSM142892050 soft tissue,liver,sarcoma,NS c.359A>T p.K120M 17:7676010-7676010 15
46 COSM91028178 soft tissue,lung,sarcoma,NS c.2942C>T p.A981V 9:8404587-8404587 15
47 COSM91859752 soft tissue,lung,sarcoma,NS c.35G>T p.G12V 12:25245350-25245350 15
48 COSM98743623 soft tissue,lung,sarcoma,NS c.41C>A p.P14Q 20:9644288-9644288 15
49 COSM100223095 soft tissue,lung,sarcoma,NS c.1597+1G>T p.? 19:45353082-45353082 15
50 COSM134615012 soft tissue,lung,sarcoma,NS c.34G>T p.G12C 12:25245351-25245351 15

Expression for Alveolar Soft Part Sarcoma

Search GEO for disease gene expression data for Alveolar Soft Part Sarcoma.

Pathways for Alveolar Soft Part Sarcoma

Pathways related to Alveolar Soft Part Sarcoma according to KEGG:

36
# Name Kegg Source Accession
1 Transcriptional misregulation in cancer hsa05202

Pathways related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

(show all 17)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
13.34 TCF3 RET PDGFRB MYOG MYOD1 MYF5
2
Show member pathways
12.71 RET PDGFRB MTOR MLH1 EGFR
3 12.52 RET PDGFRB MTOR MLH1 MET EGFR
4
Show member pathways
12.45 TFE3 PDGFRB MTOR MET EGFR
5 12.29 VIM PDGFRB MTOR MET EGFR
6
Show member pathways
12.27 PDGFRB MTOR MET EGFR
7 12.08 TFE3 TCF3 MET ASPSCR1
8 11.95 RET PDGFRB MET EGFR
9 11.79 VIM TCF3 PDGFRB MET
10 11.6 TFE3 TCF3 MYOD1
11 11.5 TCF3 PDGFRB MTOR EGFR
12
Show member pathways
11.26 PDGFRB MET EGFR
13 11.19 PDGFRB MTOR MET
14
Show member pathways
11.02 TCF3 MYOG MYOD1 MYF5
15 10.91 MTOR MET EGFR
16 10.86 VIM PDGFRB MET EGFR DES
17 10.86 RET PDGFRB MTOR MET EGFR

GO Terms for Alveolar Soft Part Sarcoma

Cellular components related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 intracellular membrane-bounded organelle GO:0043231 9.63 SLC16A1 RET PDGFRB MTOR BSG ASPSCR1
2 receptor complex GO:0043235 9.26 RET PDGFRB MET EGFR
3 focal adhesion GO:0005925 9.02 VIM PDGFRB EGFR BSG ADAM9

Biological processes related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

(show all 22)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.11 TFE3 TCF3 MYOG MYOD1 MYF5 MET
2 protein phosphorylation GO:0006468 9.97 RET PDGFRB MYOD1 MTOR MET EGFR
3 positive regulation of transcription, DNA-templated GO:0045893 9.95 TFE3 TCF3 RET MYOG MYOD1 EGFR
4 MAPK cascade GO:0000165 9.88 RET PDGFRB MET EGFR
5 ossification GO:0001503 9.78 MYOG MYF5 EGFR
6 peptidyl-tyrosine phosphorylation GO:0018108 9.76 RET PDGFRB MET EGFR
7 positive regulation of smooth muscle cell proliferation GO:0048661 9.73 PDGFRB MTOR EGFR
8 response to hydrogen peroxide GO:0042542 9.72 PDGFRB MB ADAM9
9 skeletal muscle tissue development GO:0007519 9.71 MYOG MYOD1 MYF5
10 transmembrane receptor protein tyrosine kinase signaling pathway GO:0007169 9.71 RET PDGFRB MET EGFR
11 skeletal muscle cell differentiation GO:0035914 9.7 MYOG MYOD1 MYF5
12 positive regulation of protein kinase B signaling GO:0051897 9.65 RET PDGFRB MTOR MET EGFR
13 cellular response to estradiol stimulus GO:0071392 9.61 MYOG MYOD1 EGFR
14 positive regulation of cell adhesion mediated by integrin GO:0033630 9.6 RET ADAM9
15 myotube differentiation GO:0014902 9.59 MYOG MYOD1
16 positive regulation of keratinocyte migration GO:0051549 9.58 MTOR ADAM9
17 positive regulation of myoblast differentiation GO:0045663 9.54 MYOG MYOD1 MYF5
18 positive regulation of neuron maturation GO:0014042 9.51 RET MTOR
19 positive regulation of myoblast fusion GO:1901741 9.5 MYOG MYOD1 MYF5
20 positive regulation of skeletal muscle fiber development GO:0048743 9.33 MYOG MYOD1 MYF5
21 muscle cell fate commitment GO:0042693 9.13 MYOG MYOD1 MYF5
22 positive regulation of muscle cell differentiation GO:0051149 8.92 TCF3 MYOG MYOD1 MYF5

Molecular functions related to Alveolar Soft Part Sarcoma according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 protein kinase activity GO:0004672 9.83 RET PDGFRB MTOR MET EGFR
2 protein heterodimerization activity GO:0046982 9.8 TCF3 MYOG MYOD1 MYF5 EGFR
3 RNA polymerase II proximal promoter sequence-specific DNA binding GO:0000978 9.77 TFE3 TCF3 MYOG MYOD1 MYF5
4 nucleotide binding GO:0000166 9.72 RET PDGFRB MTOR MET EGFR
5 protein tyrosine kinase activity GO:0004713 9.56 RET PDGFRB MET EGFR
6 protein dimerization activity GO:0046983 9.55 TFE3 TCF3 MYOG MYOD1 MYF5
7 transmembrane receptor protein tyrosine kinase activity GO:0004714 9.26 RET PDGFRB MET EGFR
8 E-box binding GO:0070888 8.92 TCF3 MYOG MYOD1 MYF5

Sources for Alveolar Soft Part Sarcoma

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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