ASPS
MCID: ALV005
MIFTS: 57

Alveolar Soft Part Sarcoma (ASPS) malady

Rare diseases, Cancer diseases categories

Summaries for Alveolar Soft Part Sarcoma

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Sources:
9Disease Ontology, 66Wikipedia, 48OMIM, 34MalaCards
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Disease Ontology:9 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.

MalaCards: Alveolar Soft Part Sarcoma, also known as alveolar soft-part sarcoma, is related to sarcoma and granular cell tumor. An important gene associated with Alveolar Soft Part Sarcoma is ASPSCR1 (alveolar soft part sarcoma chromosome region, candidate 1), and among its related pathways are Striated Muscle Contraction and Aurora B signaling. The compounds acetic acid and orcein have been mentioned in the context of this disorder. Affiliated tissues include tongue, cervix and breast, and related mouse phenotypes are muscle and growth/size/body.

Wikipedia:66 Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft tissue sarcoma, that grows... more...

Description from OMIM:48 606243

Aliases & Classifications for Alveolar Soft Part Sarcoma

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Sources:
9Disease Ontology, 44NIH Rare Diseases, 11DISEASES, 63UMLS, 10diseasecard, 48OMIM, 50Orphanet, 46Novoseek, 59SNOMED-CT, 36MeSH, 41NCIt, 37MESH via Orphanet, 60SNOMED-CT via Orphanet, 64UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Orphanet: 50 
Rare tumors


Characteristics (Orphanet epidemiological data):

50
alveolar soft-part sarcoma:
Age of onset: Variable


Aliases & Descriptions:

alveolar soft part sarcoma 9 44 11 63
alveolar soft-part sarcoma 10 48 50
asps 44 50
childhood alveolar soft part sarcoma 9
pediatric alveolar soft part sarcoma 9
childhood alveolar soft-part sarcoma 63
adult alveolar soft part sarcoma 9
adult alveolar soft-part sarcoma 63
alveolar soft-tissue sarcoma 50
sarcoma alveolar soft part 46


External Ids:

Disease Ontology9 DOID:4239
MeSH36 D018234
NCIt41 C3750
OMIM48 606243
MESH via Orphanet37 D018234
SNOMED-CT via Orphanet60 404056007, 88195001
UMLS via Orphanet64 C0206657

Related Diseases for Alveolar Soft Part Sarcoma

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Sources:
18GeneCards, 19GeneDecks
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Diseases related to Alveolar Soft Part Sarcoma via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 72)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma32.2MET, TFE3, DES, VIM, GUSB
2granular cell tumor30.5DES, VIM
3chondrosarcoma30.4MET, VIM, DES
4rhabdomyosarcoma30.4MET, VIM, DES
5vulvar alveolar soft part sarcoma10.6
6cervical alveolar soft part sarcoma10.6
7cerebritis10.6
8renal cell carcinoma10.6
9paraganglioma10.5
10soft tissue sarcoma10.5
11sinusitis10.5
12urethritis10.5
13meningitis10.5
14myositis ossificans10.3
15clear cell sarcoma10.3
16duodenitis10.3
17adenoma10.3
18breast cancer10.3
19cervicitis10.3
20eosinophilia10.3
21hemangioma10.3
22meningioma10.3
23myositis10.3
24osteosarcoma10.3
25pancreatitis10.3
26pituitary adenoma10.3
27respiratory failure10.3
28retroperitoneal sarcoma10.3
29vaginitis10.3
30endotheliitis10.3
31perivascular epithelioid cell tumor10.1TFE3
32infantile myofibromatosis10.1DES
33adenomatoid tumor10.1VIM
34chordoma10.1VIM, DES
35epithelioid leiomyosarcoma10.1VIM, DES
36mesenchymal chondrosarcoma10.1VIM, DES
37pseudosarcomatous fibromatosis10.1DES, VIM
38spindle cell carcinoma10.1VIM, DES
39spindle cell sarcoma10.1DES, VIM
40sertoli cell tumor10.1DES, VIM
41fibrous histiocytoma10.1DES, VIM
42dermatofibrosarcoma protuberans10.1DES, VIM
43endometrial stromal sarcoma10.1DES, VIM
44rhabdoid tumor10.1VIM, DES
45sex cord-gonadal stromal tumor10.0VIM, DES
46hemangiopericytoma10.0DES, VIM
47angiomyolipoma10.0DES, VIM
48glomus tumor10.0VIM, DES
49fibroma10.0VIM, DES
50malignant mixed mullerian tumor10.0VIM, DES

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



Diseases related to alveolar soft part sarcoma

Symptoms for Alveolar Soft Part Sarcoma

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Sources:
48OMIM
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Clinical features from OMIM:

606243

Drugs & Therapeutics for Alveolar Soft Part Sarcoma

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Sources:
6CenterWatch, 43NIH Clinical Center, 7ClinicalTrials, 63UMLS, 42NDF-RT
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Approved drugs:

Search CenterWatch for Alveolar Soft Part Sarcoma

Drug clinical trials:

Search ClinicalTrials for Alveolar Soft Part Sarcoma

Search NIH Clinical Center for Alveolar Soft Part Sarcoma

Search CenterWatch for Alveolar Soft Part Sarcoma

Genetic Tests for Alveolar Soft Part Sarcoma

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Anatomical Context for Alveolar Soft Part Sarcoma

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Sources:
34MalaCards
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MalaCards organs/tissues related to Alveolar Soft Part Sarcoma:

34
Tongue, Cervix, Breast, Bone, Skeletal muscle, Brain, Lung, Uterus, Liver, Lymph node, Pituitary, Myeloid, Endothelial

Animal Models for Alveolar Soft Part Sarcoma or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Alveolar Soft Part Sarcoma:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.2DES, VIM, MET, TRIM63
2MP:00053787.7TRIM63, MET, VIM, GUSB, TFE3
3MP:00107687.2TRIM63, MET, VIM, GUSB, TFE3, DES

Publications for Alveolar Soft Part Sarcoma

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53PubMed
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Articles related to Alveolar Soft Part Sarcoma:

(show top 50)    (show all 379)
idTitleAuthorsYear
1
Molecular cytogenetic analysis for TFE3 rearrangement in Xp11.2 renal cell carcinoma and alveolar soft part sarcoma: validation and clinical experience with 75 cases. (23828314)
2014
2
Lung metastasis of primary alveolar soft-part sarcoma occurring 20 years after initial treatment. (24379977)
2013
3
Alveolar soft part sarcoma 'revisited': clinicopathological review of 47 cases from a tertiary cancer referral centre, including immunohistochemical expression of TFE3 in 22 cases and 21 other tumours. (22173238)
2012
4
Alveolar soft part sarcoma: a single-center 26-patient case series and review of the literature. (22666000)
2012
5
Alveolar soft part sarcoma of the uterine cervix in a woman presenting with postmenopausal bleeding: a case report and literature review. (21797137)
2011
6
Long term survival in a metastatic alveolar soft part sarcoma at the time of diagnosis: a case with 17 years of follow-up. (21766518)
2011
7
Duodenal metastasis of alveolar soft part sarcoma. (22191294)
2011
8
Successful sequential antiangiogenic therapy for alveolar soft part sarcoma - a case report. (20557847)
2010
9
Pathology quiz case 1: alveolar soft-part sarcoma (ASPS) of the anterior tonsillar pillar. (20479388)
2010
10
Expression of MET in alveolar soft part sarcoma. (19472090)
2010
11
Orbital alveolar soft part sarcoma: Histopathologic report of two cases. (23960876)
2010
12
Bone scintigraphic images of a patient with unusual metastatic alveolar soft-part sarcoma. (19851182)
2009
13
Primary alveolar soft part sarcoma of vertebra: a case report and literature review. (19347336)
2009
14
Molecular analyses of cell origin and detection of circulating tumor cells in the peripheral blood in alveolar soft part sarcoma. (19380023)
2009
15
Response to sunitinib malate in advanced alveolar soft part sarcoma. (19188185)
2009
16
Acute respiratory failure in a 16-yr-old girl with alveolar soft part sarcoma]. (19469095)
2008
17
Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma. (18176180)
2008
18
Alveolar soft-part sarcoma of the retroperitoneum. (17010020)
2006
19
Vascular-endothelial-growth-factor (VEGF) expression and possible response to angiogenesis inhibitor bevacizumab in metastatic alveolar soft part sarcoma. (16750504)
2006
20
Interferon alpha for alveolar soft part sarcoma. (15602705)
2005
21
Soft tissue sarcomas. Case 2. Orbital alveolar soft part sarcoma in a child. (15143097)
2004
22
Alveolar soft part sarcoma on the glabella. (15081230)
2004
23
Alveolar soft part sarcoma in Japan: multi-institutional study of 57 patients from the Japanese Musculoskeletal Oncology Group. (12837977)
2003
24
Alveolar soft part sarcoma: a unique tumor with disputed histogenesis. (14716125)
2003
25
Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: alveolar soft part sarcoma. (12165444)
2002
26
Metastatic alveolar soft-part sarcoma of the intracranial skull base: case report. (17167641)
2002
27
Alveolar soft part sarcoma: are we at the end or just the beginning of our quest? (11943703)
2002
28
Cytogenetic abnormalities of alveolar soft-part sarcomas using interphase fluorescent in situ hybridization: trisomy for chromosome 7 and monosomy for chromosomes 8 and 18 seem to be characteristic of the tumor. (11253120)
2001
29
RT-PCR suggests human skeletal muscle origin of alveolar soft-part sarcoma. (10838498)
2000
30
Alveolar soft part sarcoma of the tongue. Report of a case. (11071242)
2000
31
Alveolar soft part sarcoma of the tongue. (10687905)
1999
32
Alveolar soft-part sarcoma: further evidence by FISH for the involvement of chromosome band 17q25. (9739024)
1998
33
Alveolar soft part sarcoma: review of nine cases including two cases with unusual histology. (9522219)
1998
34
Intracytoplasmic crystals of alveolar soft part sarcoma: demonstration by Riu's stain. (9250326)
1997
35
Trisomy 8 in alveolar soft part sarcoma. (7773967)
1995
36
Crystal-deficient alveolar soft part sarcoma. (8266593)
1993
37
Alveolar soft part sarcoma: a clinicopathologic and immunohistochemical study of 13 cases]. (1452160)
1992
38
Alveolar soft part sarcoma: an analysis of 8 cases. Review of the literature. (1845480)
1991
39
Alveolar soft-part sarcoma of the tongue. Report of a case. (2111358)
1990
40
Alveolar soft part sarcoma of the nasal cavity: report of a case and a review of the literature. (3054374)
1988
41
Alveolar soft part sarcoma: immunological evidence of rhabdomyoblastic differentiation. (3209185)
1988
42
Alveolar soft-part sarcoma: a hormone-sensitive tumour? (3200782)
1988
43
Fine needle aspiration cytology of alveolar soft-part sarcoma. A case report. (3861045)
1985
44
Alveolar soft part sarcoma of the uterine cervix. (4054722)
1985
45
Alveolar soft part sarcoma following radiotherapy for a spinal hemangioma. A case report. (6722724)
1984
46
Alveolar soft-part sarcoma in the oral cavity: report of a case. (1059755)
1976
47
Alveolar soft-part sarcoma. (4524369)
1974
48
Alveolar soft-part sarcoma. Report of a case presenting as a sacral bone tumor. (5762710)
1969
49
Alveolar soft-part sarcoma. (5770452)
1969
50
Malignant nonchromaffin paraganglioma or alveolar soft-part sarcoma in the temporal region. (6074147)
1967

Variations for Alveolar Soft Part Sarcoma

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Expression for genes affiliated with Alveolar Soft Part Sarcoma

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Sources:
2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Alveolar Soft Part Sarcoma

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

Pathways for genes affiliated with Alveolar Soft Part Sarcoma

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Sources:
51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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Pathways related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5VIM, DES
2
Show member pathways
Signaling by Aurora kinases39
Aurora C signaling39
9.5VIM, DES
3
Show member pathways
9.3MET, VIM
49.1MET, ASPSCR1, TFE3

Compounds for genes affiliated with Alveolar Soft Part Sarcoma

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Sources:
46Novoseek, 30IUPHAR, 25HMDB, 12DrugBank, 52PharmGKB, 62Tocris Bioscience, 3BitterDB
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Compounds related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1acetic acid46 30 25 1213.2SLC16A1
2orcein4610.0DES, VIM
3s 1004610.0VIM, DES
4toluidine4610.0VIM, DES
5reticulin4610.0VIM, DES
6mucicarmine4610.0VIM, DES
7phalloidin469.9VIM, DES
8b 723469.9VIM, DES
9gemfibrozil30 46 1211.9VIM, DES
10bezafibrate46 30 1211.9DES, VIM
11acetaldehyde30 46 2511.8VIM, DES
12fenofibrate46 52 1211.8VIM, DES
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide469.8MET, DES
14hematoxylin469.7VIM, DES
15k252a469.7MET, VIM
16ccl446 3010.7DES, MET
17ganglioside469.7VIM, DES
18procollagen469.6VIM, DES
19biotin46 25 1211.5SLC16A1, VIM, DES
20progestin469.4DES, VIM
21n-(4-hydroxyphenyl)retinamide469.4GUSB, VIM
22cytochalasin b469.4VIM, GUSB
23iron46 2510.4DES, VIM, TRIM63
24lysine469.4TRIM63, VIM, DES
25adriamycin469.3MET, VIM, DES
26heparan sulfate46 2510.3DES, VIM, MET
27gefitinib46 52 1211.3MET, VIM
2812-o-tetradecanoylphorbol 13-acetate469.3MET, VIM, DES
29neomycin469.3GUSB, VIM
30glycogen46 2510.3DES, VIM, MET
31actinomycin d469.3MET, VIM, DES
32paraffin469.3MET, VIM, DES
33dermatan sulfate469.2VIM, GUSB, DES
34acetylcholine46 52 30 25 1213.1VIM, GUSB, DES
35butyrate469.0GUSB, VIM, SLC16A1
36proline469.0DES, TFE3, VIM, MET
37progesterone46 30 62 25 1212.9MET, VIM, DES
38glucose468.9DES, TFE3, MET, SLC16A1
39creatinine468.9VIM, GUSB, DES
40nitric oxide46 25 1210.9DES, MET, SLC16A1, TRIM63
41retinoic acid46 259.8DES, VIM, MET, TRIM63
42genistein46 30 62 3 25 1213.8MET, VIM, GUSB
43lactate468.6SLC16A1, VIM, GUSB, DES
44doxorubicin46 52 1210.5MET, VIM, GUSB, DES
45heparin46 30 25 1211.5DES, GUSB, VIM, MET
46serine468.2TRIM63, MET, VIM, DES

GO Terms for genes affiliated with Alveolar Soft Part Sarcoma

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17Gene Ontology
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Cellular components related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1intermediate filamentGO:0058829.5VIM, DES
2Z discGO:0300189.3TRIM63, DES

Biological processes related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle contractionGO:0069369.6TRIM63, DES
2muscle filament slidingGO:0300499.4VIM, DES
3glucose homeostasisGO:0425939.2MET, ASPSCR1

Molecular functions related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1structural constituent of cytoskeletonGO:0052009.5VIM, DES

Products for genes affiliated with Alveolar Soft Part Sarcoma

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  • Antibodies
  • Proteins
  • Lysates
  • Antibodies

Sources for Alveolar Soft Part Sarcoma

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4CDC
14ExPASy
15FMA
23GTR
24HGMD
25HMDB
26ICD10
27ICD10 via Orphanet
28ICD9CM
30IUPHAR
31KEGG
36MeSH
37MESH via Orphanet
38MGI
41NCIt
42NDF-RT
45NINDS
46Novoseek
48OMIM
49OMIM via Orphanet
53PubMed
54QIAGEN
60SNOMED-CT via Orphanet
63UMLS
64UMLS via Orphanet