ASPS
MCID: ALV005
MIFTS: 57

Alveolar Soft Part Sarcoma (ASPS) malady

Rare diseases, Cancer diseases categories
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Summaries for Alveolar Soft Part Sarcoma

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Disease Ontology:8 A soft tissue cancer that is a slow growing tumor of an unknown origin that effects children and effects young adults.

MalaCards based summary: Alveolar Soft Part Sarcoma, also known as alveolar soft-part sarcoma, is related to sarcoma and paraganglioma, and has symptoms including 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:65 Alveolar soft part sarcoma, abbreviated ASPS, is a very rare type of soft tissue sarcoma, that grows... more...

Description from OMIM:46 606243

Aliases & Classifications for Alveolar Soft Part Sarcoma

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Sources:
8Disease Ontology, 9diseasecard, 42NIH Rare Diseases, 46OMIM, 10DISEASES, 44Novoseek, 48Orphanet, 62UMLS, 57SNOMED-CT, 34MeSH, 39NCIt, 35MESH via Orphanet, 63UMLS via Orphanet
See all sources

Alveolar Soft Part Sarcoma, Aliases & Descriptions:

Name: Alveolar Soft Part Sarcoma 8 42 10 62
Alveolar Soft-Part Sarcoma 9 46 48
Asps 42 48
Pediatric Alveolar Soft Part Sarcoma 8
Childhood Alveolar Soft-Part Sarcoma 62
 
Childhood Alveolar Soft Part Sarcoma 8
Adult Alveolar Soft-Part Sarcoma 62
Adult Alveolar Soft Part Sarcoma 8
Alveolar Soft-Tissue Sarcoma 48
Sarcoma Alveolar Soft Part 44


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Orphanet: 48 
Rare tumors


Characteristics (Orphanet epidemiological data):

48
alveolar soft-part sarcoma:
Age of onset: Variable


External Ids:

Disease Ontology8 DOID:4239
OMIM46 606243
MeSH34 D018234
NCIt39 C3750
MESH via Orphanet35 D018234
UMLS via Orphanet63 C0206657

Related Diseases for Alveolar Soft Part Sarcoma

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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
1sarcoma31.6MET, TFE3, DES, VIM, GUSB
2paraganglioma31.1VIM, DES
3granular cell tumor31.0DES, VIM
4chondrosarcoma30.4MET, VIM, DES
5rhabdomyosarcoma30.4MET, VIM, DES
6renal cell carcinoma10.6
7vulvar alveolar soft part sarcoma10.6
8cervical alveolar soft part sarcoma10.6
9cerebritis10.6
10sinusitis10.6
11meningitis10.6
12soft tissue sarcoma10.6
13perivascular epithelioid cell tumor10.5TFE3
14infantile myofibromatosis10.5DES
15urethritis10.5
16adenomatoid tumor10.4VIM
17hemangioma10.3
18vulvovaginitis10.3
19myositis ossificans10.3
20clear cell sarcoma10.3
21duodenitis10.3
22adenoma10.3
23breast cancer10.3
24cervicitis10.3
25eosinophilia10.3
26mediastinitis10.3
27meningioma10.3
28myositis10.3
29osteosarcoma10.3
30pancreatitis10.3
31pituitary adenoma10.3
32respiratory failure10.3
33retroperitoneal sarcoma10.3
34vaginitis10.3
35endotheliitis10.3
36chordoma10.3VIM, DES
37epithelioid leiomyosarcoma10.2VIM, DES
38mesenchymal chondrosarcoma10.2VIM, DES
39pseudosarcomatous fibromatosis10.2DES, VIM
40spindle cell carcinoma10.2VIM, DES
41spindle cell sarcoma10.2DES, VIM
42sertoli cell tumor10.2DES, VIM
43fibrous histiocytoma10.2DES, VIM
44dermatofibrosarcoma protuberans10.2DES, VIM
45endometrial stromal sarcoma10.2DES, VIM
46rhabdoid tumor10.2VIM, DES
47sex cord-gonadal stromal tumor10.2VIM, DES
48hemangiopericytoma10.2DES, VIM
49angiomyolipoma10.2DES, VIM
50fibroma10.2VIM, 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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Clinical features from OMIM:

606243

HPO human phenotypes related to Alveolar Soft Part Sarcoma:

id Description Frequency HPO Source Accession
1 somatic mutation HP:0001428
2 alveolar soft part sarcoma HP:0012218

Drugs & Therapeutics for Alveolar Soft Part Sarcoma

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Drug clinical trials:

Search ClinicalTrials for Alveolar Soft Part Sarcoma

Search NIH Clinical Center 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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MalaCards organs/tissues related to Alveolar Soft Part Sarcoma:

32
Tongue, Cervix, Breast, Bone, Brain, Skeletal muscle, Lung, Uterus, Lymph node, Liver, Pituitary, Kidney, Skin, Myeloid, Endothelial

Animal Models for Alveolar Soft Part Sarcoma or affiliated genes

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MGI Mouse Phenotypes related to Alveolar Soft Part Sarcoma:

36
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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Articles related to Alveolar Soft Part Sarcoma:

(show top 50)    (show all 395)
idTitleAuthorsYear
1
Alveolar soft part sarcoma arising from the kidney: imaging and clinical features. (24843244)
2014
2
Management of recurrent alveolar soft-part sarcoma of the tongue after external beam radiotherapy with iodine-125 seed brachytherapy. (24585519)
2014
3
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
4
Lung metastasis of primary alveolar soft-part sarcoma occurring 20 years after initial treatment. (24379977)
2013
5
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
6
Alveolar soft part sarcoma of the uterine cervix in a woman presenting with postmenopausal bleeding: a case report and literature review. (21797137)
2011
7
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
8
Duodenal metastasis of alveolar soft part sarcoma. (22191294)
2011
9
Necrosis of a skin autograft after short-term treatment with sunitinib in a 14-year-old girl with metastatic alveolar soft part sarcoma of the thigh. (20514624)
2010
10
Successful sequential antiangiogenic therapy for alveolar soft part sarcoma - a case report. (20557847)
2010
11
Pathology quiz case 1: alveolar soft-part sarcoma (ASPS) of the anterior tonsillar pillar. (20479388)
2010
12
Expression of MET in alveolar soft part sarcoma. (19472090)
2010
13
Orbital alveolar soft part sarcoma: Histopathologic report of two cases. (23960876)
2010
14
Bone scintigraphic images of a patient with unusual metastatic alveolar soft-part sarcoma. (19851182)
2009
15
Primary alveolar soft part sarcoma of vertebra: a case report and literature review. (19347336)
2009
16
Molecular analyses of cell origin and detection of circulating tumor cells in the peripheral blood in alveolar soft part sarcoma. (19380023)
2009
17
Response to sunitinib malate in advanced alveolar soft part sarcoma. (19188185)
2009
18
Acute respiratory failure in a 16-yr-old girl with alveolar soft part sarcoma]. (19469095)
2008
19
Immunohistochemical discrimination between the ASPL-TFE3 fusion proteins of alveolar soft part sarcoma. (18176180)
2008
20
Alveolar soft-part sarcoma of the retroperitoneum. (17010020)
2006
21
Vascular-endothelial-growth-factor (VEGF) expression and possible response to angiogenesis inhibitor bevacizumab in metastatic alveolar soft part sarcoma. (16750504)
2006
22
Interferon alpha for alveolar soft part sarcoma. (15602705)
2005
23
Soft tissue sarcomas. Case 2. Orbital alveolar soft part sarcoma in a child. (15143097)
2004
24
Alveolar soft part sarcoma in Japan: multi-institutional study of 57 patients from the Japanese Musculoskeletal Oncology Group. (12837977)
2003
25
Alveolar soft part sarcoma: a unique tumor with disputed histogenesis. (14716125)
2003
26
Updates on the cytogenetics and molecular genetics of bone and soft tissue tumors: alveolar soft part sarcoma. (12165444)
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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Expression patterns in normal tissues for genes affiliated with Alveolar Soft Part Sarcoma

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Pathways for genes affiliated with Alveolar Soft Part Sarcoma

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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 kinases37
Aurora C signaling37
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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Compounds related to Alveolar Soft Part Sarcoma according to GeneCards/GeneDecks:

(show all 46)
idCompoundScoreTop Affiliating Genes
1acetic acid44 28 24 1113.2SLC16A1
2orcein4410.0DES, VIM
3s 1004410.0VIM, DES
4toluidine4410.0VIM, DES
5reticulin4410.0VIM, DES
6mucicarmine4410.0VIM, DES
7phalloidin449.9VIM, DES
8b 723449.9VIM, DES
9gemfibrozil28 44 1111.9VIM, DES
10bezafibrate44 28 1111.9DES, VIM
11acetaldehyde28 44 2411.8VIM, DES
12fenofibrate44 50 1111.8VIM, DES
133-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide449.8MET, DES
14hematoxylin449.7VIM, DES
15k252a449.7MET, VIM
16ccl444 2810.7DES, MET
17ganglioside449.7VIM, DES
18procollagen449.6VIM, DES
19biotin44 24 1111.5SLC16A1, VIM, DES
20progestin449.4DES, VIM
21n-(4-hydroxyphenyl)retinamide449.4GUSB, VIM
22cytochalasin b449.4VIM, GUSB
23iron44 2410.4DES, VIM, TRIM63
24lysine449.4TRIM63, VIM, DES
25adriamycin449.3MET, VIM, DES
26heparan sulfate44 2410.3DES, VIM, MET
27gefitinib44 50 1111.3MET, VIM
2812-o-tetradecanoylphorbol 13-acetate449.3MET, VIM, DES
29neomycin449.3GUSB, VIM
30glycogen44 2410.3DES, VIM, MET
31actinomycin d449.3MET, VIM, DES
32paraffin449.3MET, VIM, DES
33dermatan sulfate449.2VIM, GUSB, DES
34acetylcholine44 50 28 24 1113.1VIM, GUSB, DES
35butyrate449.0GUSB, VIM, SLC16A1
36proline449.0DES, TFE3, VIM, MET
37progesterone44 28 61 24 1112.9MET, VIM, DES
38glucose448.9DES, TFE3, MET, SLC16A1
39creatinine448.9VIM, GUSB, DES
40nitric oxide44 24 1110.9DES, MET, SLC16A1, TRIM63
41retinoic acid44 249.8DES, VIM, MET, TRIM63
42genistein44 28 61 2 24 1113.8MET, VIM, GUSB
43lactate448.6SLC16A1, VIM, GUSB, DES
44doxorubicin44 50 1110.5MET, VIM, GUSB, DES
45heparin44 28 24 1111.5DES, GUSB, VIM, MET
46serine448.2TRIM63, MET, VIM, DES

GO Terms for genes affiliated with Alveolar Soft Part Sarcoma

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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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Sources for Alveolar Soft Part Sarcoma

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3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
34MeSH
35MESH via Orphanet
36MGI
39NCIt
40NDF-RT
43NINDS
44Novoseek
46OMIM
47OMIM via Orphanet
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet