DSRCT
MCID: DSM007
MIFTS: 54

Desmoplastic Small Round Cell Tumor (DSRCT) malady

Rare diseases, Cancer diseases categories

Summaries for Desmoplastic Small Round Cell Tumor

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44NIH Rare Diseases, 66Wikipedia, 34MalaCards
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NIH Rare Diseases:44 Desmoplastic small round cell tumors (dsrct), a rare malignant cancer, is a soft tissue sarcoma that usually affects young boys and men and is found most often in the abdomen. its name means that it is formed by small, round cancer cells surrounded by scarlike tissue. the most common symptoms include abdominal pain, abdominal mass and symptoms of gastrointestinal obstruction.Ā dsrcts are treated first with chemotherapy, then with surgery to remove the tumor, if possible. radiation therapy is sometimes given, depending on the tumor. in addition, some people with dsrct are candidates for a bone marrow transplant. last updated: 6/19/2009

MalaCards: Desmoplastic Small Round Cell Tumor, also known as desmoplastic small round-cell tumor, is related to sarcoma and synovial sarcoma, and has symptoms including testis anomalies, peritoneal diseases and lymphadenopathy/polyadenopathies. An important gene associated with Desmoplastic Small Round Cell Tumor is EWSR1 (EWS RNA-binding protein 1), and among its related pathways are Striated Muscle Contraction and Hypertrophic cardiomyopathy (HCM). The compounds 3-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide and l-amino acid have been mentioned in the context of this disorder. Affiliated tissues include bone, lung and ovary, and related mouse phenotypes are muscle and normal.

Wikipedia:66 Desmoplastic small-round-cell tumor is classified as a soft tissue sarcoma. It is an aggressive and rare... more...

Aliases & Classifications for Desmoplastic Small Round Cell Tumor

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44NIH Rare Diseases, 50Orphanet, 63UMLS, 46Novoseek, 37MESH via Orphanet, 27ICD10 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
desmoplastic small round cell tumor:
Inheritance: Sporadic; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

desmoplastic small round cell tumor 44 50 63
desmoplastic small round-cell tumor 44 46
dsrct 44 50


External Ids:

MESH via Orphanet37 D058405
ICD10 via Orphanet27 C48.2
SNOMED-CT via Orphanet60 128735004
UMLS via Orphanet64 C0281508

Related Diseases for Desmoplastic Small Round Cell Tumor

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18GeneCards, 19GeneDecks
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Diseases related to Desmoplastic Small Round Cell Tumor via text searches within MalaCards or GeneCards/GeneDecks gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1sarcoma31.3WT1, S100B, ACTC1, EWSR1, DES
2synovial sarcoma31.1DES, S100B
3wilms tumor31.0DES, EWSR1, ACTC1, WT1
4alveolar rhabdomyosarcoma30.9WT1, DES
5rhabdomyosarcoma30.8DES, EWSR1, ACTC1, S100B, WT1
6malignant peripheral nerve sheath tumor30.6ACTC1, S100B
7gastrointestinal stromal tumor30.6DES, ACTC1, S100B
8melanoma30.4S100B, ACTC1, TGFB3, EWSR1, DES
9peritonitis10.7
10hepatitis10.6
11primitive neuroectodermal tumor10.5
12sertoli-leydig cell tumor10.4
13hypoglycemia10.4
14leukemia10.4
15leydig cell tumor10.4
16lymphoblastic leukemia10.4
17ovarian cancer10.4
18ewing's family of tumors10.4
19cor pulmonale10.4
20solitary fibrous tumor10.4
21melanoma of soft parts10.4
22cerebral primitive neuroectodermal tumor10.1EWSR1
23metanephric adenoma10.1WT1
24infantile myofibromatosis10.1DES
25fibrous histiocytoma10.1EWSR1
26peripheral primitive neuroectodermal tumor10.1EWSR1
27adenomatoid tumor10.1WT1
28fibrous meningioma10.1S100B
29fasciitis10.1ACTC1
30syringoma10.1S100B
31histiocytosis10.1S100B
32subependymal giant cell astrocytoma10.1SYP
33dysembryoplastic neuroepithelial tumor10.1SYP
34nephroblastoma10.1WT1, EWSR1
35adenosarcoma10.1DES, ACTC1
36epithelioid leiomyosarcoma10.1DES, ACTC1
37pseudosarcomatous fibromatosis10.1DES, ACTC1
38spindle cell carcinoma10.1ACTC1, DES
39desmoid tumor10.1DES, ACTC1
40liposarcoma10.1EWSR1, DES
41endometrial stromal sarcoma10.1ACTC1, DES
42angiomyolipoma10.0DES, ACTC1
43neuroepithelioma10.0SYP, EWSR1
44fibroma10.0DES, ACTC1
45chordoma10.0DES, S100B
46papilloma10.0ACTC1
47sertoli cell tumor10.0DES, SYP
48ganglioglioma10.0SYP, S100B
49papillary ependymoma10.0SYP, S100B
50olfactory neuroblastoma10.0SYP, S100B

Graphical network of the top 20 diseases related to Desmoplastic Small Round Cell Tumor:



Diseases related to desmoplastic small round cell tumor

Symptoms for Desmoplastic Small Round Cell Tumor

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50Orphanet
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Symptoms:

50 (show all 19)
  • testis anomalies
  • peritoneal diseases
  • lymphadenopathy/polyadenopathies
  • hepatomegaly/liver enlargement (excluding storage disease)
  • ascitis
  • anaemia
  • weight loss/loss of appetite/break in weight curve/general health alteration
  • acute abdominal pain/colic
  • lung/bronchopulmonary neoplasm/tumor/carcinoma/cancer
  • wasted (excluding lipodystrophy)/poorly muscled build/cachexy
  • intestinal obstruction/ileus
  • central nervous system/peripheral nerves neoplasm/tumor/carcinoma/cancer
  • ovary/fallopian tube neoplasm/tumor/carcinoma/cancer (excl. teratoma/germinoma)
  • digestive neoplasm/tumor/carcinoma/cancer
  • soft tissue sarcoma/cancer/tumor/liposarcoma/myosarcoma
  • mediastinal/hilar adenopathies
  • pancreatic/pancreas neoplasm/tumor/carcinoma/cancer
  • nose/nasal sinus neoplasm/tumor/carcinoma/cancer
  • nausea/vomiting/regurgitation/merycism/hyperemesis

Drugs & Therapeutics for Desmoplastic Small Round Cell Tumor

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

Search CenterWatch for Desmoplastic Small Round Cell Tumor

Drug clinical trials:

Search ClinicalTrials for Desmoplastic Small Round Cell Tumor

Search NIH Clinical Center for Desmoplastic Small Round Cell Tumor

Search CenterWatch for Desmoplastic Small Round Cell Tumor

Genetic Tests for Desmoplastic Small Round Cell Tumor

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Anatomical Context for Desmoplastic Small Round Cell Tumor

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34MalaCards
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MalaCards organs/tissues related to Desmoplastic Small Round Cell Tumor:

34
Bone, Lung, Ovary, Liver, Lymph node, Brain, Small intestine, Spinal cord, Spleen, Bone marrow, Kidney, Testis, Pancreas, Salivary gland, T cells

Animal Models for Desmoplastic Small Round Cell Tumor or affiliated genes

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38MGI
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MGI Mouse Phenotypes related to Desmoplastic Small Round Cell Tumor:

38
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053698.8WT1, ACTC1, EWSR1, DES
2MP:00028737.0WT1, EWSR1, TGFB3, ACTC1, SYP, S100B

Publications for Desmoplastic Small Round Cell Tumor

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53PubMed
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Articles related to Desmoplastic Small Round Cell Tumor:

(show top 50)    (show all 218)
idTitleAuthorsYear
1
Complete Cytoreduction and HIPEC Improves Survival in Desmoplastic Small Round Cell Tumor. (24046124)
2014
2
Intra-abdominal desmoplastic small round cell tumor in a 45-year-old man: a case report. (24026998)
2013
3
Reduced toxicity with intensity modulated radiation therapy (IMRT) for desmoplastic small round cell tumor (DSRCT): an update on the whole abdominopelvic radiation therapy (WAP-RT) experience. (23084475)
2013
4
Metastatic desmoplastic small round cell tumor controlled by an anthracycline-based regimen: review of the role of chemotherapy. (21301996)
2012
5
Desmoplastic small round cell tumor (DSRCT) arising in the ovary: report of a case diagnosed at an early stage and review of the literature. (22439415)
2012
6
Clinical outcomes of patients with desmoplastic small round cell tumor of the peritoneum undergoing autologous HCT: a CIBMTR retrospective analysis. (22465977)
2012
7
The diagnosis and management of desmoplastic small round cell tumor: a review. (21577112)
2011
8
Phase II clinical trial of imatinib mesylate in therapy of KIT and/or PDGFRalpha-expressing Ewing sarcoma family of tumors and desmoplastic small round cell tumors. (20332468)
2010
9
Long-term remission after CD34+-selected PBSCT in a patient with advanced intra-abdominal desmoplastic small round-cell tumor. (19718066)
2010
10
Novel treatment for desmoplastic small round cell tumor: hyperthermic intraperitoneal perfusion. (20438942)
2010
11
Advanced desmoplastic small round cell tumor: near complete response with trastuzumab-based chemotherapy. (19701155)
2009
12
Desmoplastic small round cell tumor of the kidney. (19358490)
2009
13
Retroperitoneal desmoplastic small round cell tumor: pediatric patient treated with multimodal therapy. (19725162)
2009
14
A case of desmoplastic small round cell tumor diagnosed in a young female patient. (20057970)
2009
15
A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity. (18703217)
2008
16
Outpatient and home chemotherapy with novel local control strategies in desmoplastic small round cell tumor. (18566684)
2008
17
Desmoplastic small round cell tumor: a clinical, pathological, and immunohistochemical study of 18 Chinese cases. (18573782)
2008
18
Response to vinorelbine and low-dose cyclophosphamide chemotherapy in two patients with desmoplastic small round cell tumor. (16302215)
2007
19
Desmoplastic small round cell tumor: using FISH as an ancillary technique to support cytologic diagnosis in an unusual case. (17636487)
2007
20
Desmoplastic small round cell tumor of the pelvis: MRI findings with histopathologic correlation. (16534600)
2007
21
A recent application of fluoro-18-deoxyglucose positron emission tomography, treatment monitoring with a mammalian target of rapamycin inhibitor: an example of a patient with a desmoplastic small round cell tumor. (17684580)
2007
22
Primary desmoplastic small round cell tumor of the kidney in a 7-year-old girl. (18947596)
2006
23
PDGF-A, PDGF-Rbeta, TGFbeta3 and bone morphogenic protein-4 in desmoplastic small round cell tumors with EWS-WT1 gene fusion product and their role in stromal desmoplasia: an immunohistochemical study. (15389255)
2005
24
Desmoplastic small round cell tumor: a potentially lethal neoplasm manifesting in the orbit with associated visual symptoms. (15824236)
2005
25
Desmoplastic small round cell tumor in the abdomen and pelvis: report of CT findings in 11 affected children and young adults. (15908552)
2005
26
Uncommon malignancies: case 3. Paratesticular desmoplastic small round-cell tumor. (16135493)
2005
27
Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation. (15642398)
2005
28
Desmoplastic small round cell tumor of the kidney. (15371955)
2004
29
Unusual aspects of desmoplastic small round cell tumor. (15205108)
2004
30
Desmoplastic small round cell tumor: report of a case presenting as a primary ovarian neoplasm. (12094954)
2002
31
Disialoganglioside GD2 and a novel tumor antigen: potential targets for immunotherapy of desmoplastic small round cell tumor. (12376975)
2002
32
Desmoplastic small round cell tumor presenting as a neck mass: a case report. (11466817)
2001
33
Intraabdominal desmoplastic small round cell tumor: report of a case with fine needle aspiration, cytologic diagnosis and molecular confirmation. (11480729)
2001
34
General case of the day. Desmoplastic small round cell tumor of the abdomen with scrotal metastases. (9925405)
1999
35
Chemotherapy dose-intensification for pediatric patients with Ewing's family of tumors and desmoplastic small round-cell tumors: a feasibility study at St. Jude Children's Research Hospital. (10458232)
1999
36
Intra-abdominal desmoplastic small round cell tumor: immunohistochemical evidence for up-regulation of autocrine and paracrine growth factors. (9846206)
1998
37
Desmoplastic small round cell tumor: I: a histopathologic study of 39 cases with emphasis on unusual histological patterns. (9808123)
1998
38
Desmoplastic small round cell tumor: RT-PCR analysis and immunohistochemical detection of the Wilm's tumor gene WT1. (9820865)
1998
39
Desmoplastic small round cell tumor: II: an ultrastructural and immunohistochemical study with emphasis on new immunohistochemical markers. (9808124)
1998
40
Urogenital involvement by desmoplastic small round-cell tumor. (9302152)
1997
41
Disseminated intrathoracic desmoplastic small round-cell tumor: a case report. (9149753)
1997
42
Desmoplastic small round cell tumor. (8875710)
1996
43
Characterization of the genomic breakpoint and chimeric transcripts in the EWS-WT1 gene fusion of desmoplastic small round cell tumor. (7862627)
1995
44
Desmoplastic small round cell tumor presenting in pleural fluid and accompanied by desmin-positive mesothelial cells. (7887076)
1995
45
Biphasic intraabdominal desmoplastic small round cell tumor: fine-needle aspiration cytology findings. (8599918)
1995
46
Urological aspects of intra-abdominal desmoplastic small round cell tumor of childhood: a preliminary report. (8254807)
1994
47
Peritoneal desmoplastic small round cell tumors with divergent differentiation: a review. (8266595)
1993
48
Intra-abdominal desmoplastic small round cell tumor. (8367204)
1993
49
Desmoplastic small round-cell tumor. (1599020)
1992
50
Ovarian involvement by the intra-abdominal desmoplastic small round cell tumor with divergent differentiation: a report of three cases. (1563748)
1992

Variations for Desmoplastic Small Round Cell Tumor

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Expression for genes affiliated with Desmoplastic Small Round Cell Tumor

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2BioGPS, 16Gene Expression Omnibus DataSets
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Expression patterns in normal tissues for genes affiliated with Desmoplastic Small Round Cell Tumor

Search GEO for disease gene expression data for Desmoplastic Small Round Cell Tumor.

Pathways for genes affiliated with Desmoplastic Small Round Cell Tumor

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51PathCards, 39NCBI BioSystems Database, 56Reactome, 31KEGG
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Pathways related to Desmoplastic Small Round Cell Tumor according to GeneCards/GeneDecks:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5ACTC1, DES
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy39
8.7ACTC1, TGFB3, DES

Compounds for genes affiliated with Desmoplastic Small Round Cell Tumor

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Sources:
46Novoseek, 30IUPHAR, 3BitterDB, 52PharmGKB, 12DrugBank, 62Tocris Bioscience, 25HMDB
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Compounds related to Desmoplastic Small Round Cell Tumor according to GeneCards/GeneDecks:

(show all 50)
idCompoundScoreTop Affiliating Genes
13-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide469.8DES, S100B
2l-amino acid469.7SYP, S100B
3quinine46 30 3 52 1213.6SLC29A4, S100B
4procollagen469.5ACTC1, DES
5ganglioside469.5SYP, DES
6orcein469.5S100B, ACTC1, DES
7proline469.4WT1, S100B, DES
8etoposide46 52 62 1212.3WT1, S100B, SYP
9histidine469.3WT1, S100B, SYP
10cyclosporin a46 30 6211.3ACTC1, S100B, WT1
114-hydroxytamoxifen469.2TGFB3, S100B
12progestin469.2TGFB3, DES
13dbc-amp469.2SYP, S100B
14acetylcholine46 52 30 25 1213.2DES, SYP, S100B
15iron46 2510.2S100B, ACTC1, DES
16forskolin46 52 1211.2SYP, S100B, WT1
17arginine469.2DES, EWSR1, S100B, WT1
18silver469.1SYP, DES
19ccl446 3010.1S100B, TGFB3, DES
20ribonucleic acid469.1TGFB3, ACTC1, WT1
21imatinib46 52 1211.1DES, ACTC1, S100B, WT1
22glutamine469.0WT1, S100B, SYP, EWSR1
23estradiol46 25 1210.9SYP, TGFB3, DES
24norepinephrine46 25 1210.9DES, SYP, S100B, SLC29A4
25cysteine468.9DES, SYP, S100B, WT1
26s 100468.8DES, ACTC1, SYP, S100B
27reticulin468.8S100B, SYP, ACTC1, DES
28mucicarmine468.8DES, ACTC1, SYP, S100B
29hematoxylin468.8DES, ACTC1, SYP, S100B
30formaldehyde46 259.8S100B, SYP, ACTC1, DES
31glycogen46 259.8DES, ACTC1, SYP, S100B
32thymidine46 259.7DES, TGFB3, S100B, WT1
33serine468.6DES, EWSR1, SYP, S100B, WT1
34oxygen46 259.5S100B, ACTC1, TGFB3, DES
35ethanol46 52 25 1211.5DES, TGFB3, SYP, S100B
36b 723468.5WT1, S100B, SYP, ACTC1, DES
37creatinine468.4DES, ACTC1, SYP, S100B, WT1
38dopamine46 30 25 1211.4TGFB3, SYP, S100B, SLC29A4
39dexamethasone46 52 30 1211.3S100B, SYP, ACTC1, TGFB3
40calcium46 52 25 1211.3S100B, SYP, ACTC1, EWSR1, DES
41cyclic amp46 259.2S100B, SYP, TGFB3, EWSR1, DES
42nitric oxide46 25 1210.1DES, TGFB3, SYP, S100B, WT1
43progesterone46 30 62 25 1211.6DES, TGFB3, ACTC1, SYP, S100B, WT1
44testosterone46 62 25 1210.6DES, TGFB3, ACTC1, SYP, S100B, WT1
45steroid467.6DES, TGFB3, ACTC1, SYP, S100B, WT1
46vegf467.6DES, TGFB3, ACTC1, SYP, S100B, WT1
47estrogen467.6DES, TGFB3, ACTC1, SYP, S100B, WT1
48paraffin467.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B
49retinoic acid46 258.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B
50tyrosine467.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B

GO Terms for genes affiliated with Desmoplastic Small Round Cell Tumor

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17Gene Ontology
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Biological processes related to Desmoplastic Small Round Cell Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:0300499.5ACTC1, DES
2regulation of neuronal synaptic plasticityGO:0481689.0S100B, SYP

Molecular functions related to Desmoplastic Small Round Cell Tumor according to GeneCards/GeneDecks:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:0428027.8S100B, SYP, TGFB3, EWSR1, DES

Products for genes affiliated with Desmoplastic Small Round Cell Tumor

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Sources for Desmoplastic Small Round Cell Tumor

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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