DSRCT
MCID: DSM007
MIFTS: 54

Desmoplastic Small Round Cell Tumor (DSRCT) malady

Rare diseases, Cancer diseases categories
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Summaries for Desmoplastic Small Round Cell Tumor

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43NIH Rare Diseases, 65Wikipedia, 33MalaCards
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NIH Rare Diseases:43 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. 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:65 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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43NIH Rare Diseases, 49Orphanet, 62UMLS, 45Novoseek, 36MESH via Orphanet, 26ICD10 via Orphanet, 59SNOMED-CT via Orphanet, 63UMLS via Orphanet
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Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Orphanet: 49 
Rare tumors


Characteristics (Orphanet epidemiological data):

49
desmoplastic small round cell tumor:
Inheritance: Sporadic; Age of onset: Adolescence / Young adulthood


Aliases & Descriptions:

desmoplastic small round cell tumor 43 49 62
desmoplastic small round-cell tumor 43 45
dsrct 43 49


External Ids:

MESH via Orphanet36 D058405
ICD10 via Orphanet26 C48.2
SNOMED-CT via Orphanet59 128735004
UMLS via Orphanet63 C0281508

Related Diseases for Desmoplastic Small Round Cell Tumor

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17GeneCards, 18GeneDecks
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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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49Orphanet
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Symptoms:

49 (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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42NIH Clinical Center, 6ClinicalTrials, 62UMLS, 41NDF-RT
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Drug clinical trials:

Search ClinicalTrials for Desmoplastic Small Round Cell Tumor

Search NIH Clinical Center 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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33MalaCards
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MalaCards organs/tissues related to Desmoplastic Small Round Cell Tumor:

33
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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37MGI
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MGI Mouse Phenotypes related to Desmoplastic Small Round Cell Tumor:

37
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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52PubMed
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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, 15Gene 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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50PathCards, 38NCBI BioSystems Database, 55Reactome, 30KEGG
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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 cardiomyopathy38
8.7ACTC1, TGFB3, DES

Compounds for genes affiliated with Desmoplastic Small Round Cell Tumor

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Sources:
45Novoseek, 29IUPHAR, 3BitterDB, 51PharmGKB, 11DrugBank, 61Tocris Bioscience, 24HMDB
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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 bromide459.8DES, S100B
2l-amino acid459.7SYP, S100B
3quinine45 29 3 51 1113.6SLC29A4, S100B
4procollagen459.5ACTC1, DES
5ganglioside459.5SYP, DES
6orcein459.5S100B, ACTC1, DES
7proline459.4WT1, S100B, DES
8etoposide45 51 61 1112.3WT1, S100B, SYP
9histidine459.3WT1, S100B, SYP
10cyclosporin a45 29 6111.3ACTC1, S100B, WT1
114-hydroxytamoxifen459.2TGFB3, S100B
12progestin459.2TGFB3, DES
13dbc-amp459.2SYP, S100B
14acetylcholine45 51 29 24 1113.2DES, SYP, S100B
15iron45 2410.2S100B, ACTC1, DES
16forskolin45 51 1111.2SYP, S100B, WT1
17arginine459.2DES, EWSR1, S100B, WT1
18silver459.1SYP, DES
19ccl445 2910.1S100B, TGFB3, DES
20ribonucleic acid459.1TGFB3, ACTC1, WT1
21imatinib45 51 1111.1DES, ACTC1, S100B, WT1
22glutamine459.0WT1, S100B, SYP, EWSR1
23estradiol45 24 1110.9SYP, TGFB3, DES
24norepinephrine45 24 1110.9DES, SYP, S100B, SLC29A4
25cysteine458.9DES, SYP, S100B, WT1
26s 100458.8DES, ACTC1, SYP, S100B
27reticulin458.8S100B, SYP, ACTC1, DES
28mucicarmine458.8DES, ACTC1, SYP, S100B
29hematoxylin458.8DES, ACTC1, SYP, S100B
30formaldehyde45 249.8S100B, SYP, ACTC1, DES
31glycogen45 249.8DES, ACTC1, SYP, S100B
32thymidine45 249.7DES, TGFB3, S100B, WT1
33serine458.6DES, EWSR1, SYP, S100B, WT1
34oxygen45 249.5S100B, ACTC1, TGFB3, DES
35ethanol45 51 24 1111.5DES, TGFB3, SYP, S100B
36b 723458.5WT1, S100B, SYP, ACTC1, DES
37creatinine458.4DES, ACTC1, SYP, S100B, WT1
38dopamine45 29 24 1111.4TGFB3, SYP, S100B, SLC29A4
39dexamethasone45 51 29 1111.3S100B, SYP, ACTC1, TGFB3
40calcium45 51 24 1111.3S100B, SYP, ACTC1, EWSR1, DES
41cyclic amp45 249.2S100B, SYP, TGFB3, EWSR1, DES
42nitric oxide45 24 1110.1DES, TGFB3, SYP, S100B, WT1
43progesterone45 29 61 24 1111.6DES, TGFB3, ACTC1, SYP, S100B, WT1
44testosterone45 61 24 1110.6DES, TGFB3, ACTC1, SYP, S100B, WT1
45steroid457.6DES, TGFB3, ACTC1, SYP, S100B, WT1
46vegf457.6DES, TGFB3, ACTC1, SYP, S100B, WT1
47estrogen457.6DES, TGFB3, ACTC1, SYP, S100B, WT1
48paraffin457.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B
49retinoic acid45 248.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B
50tyrosine457.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B

GO Terms for genes affiliated with Desmoplastic Small Round Cell Tumor

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16Gene 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
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
29IUPHAR
30KEGG
35MeSH
36MESH via Orphanet
37MGI
40NCIt
41NDF-RT
44NINDS
45Novoseek
47OMIM
48OMIM via Orphanet
52PubMed
53QIAGEN
59SNOMED-CT via Orphanet
62UMLS
63UMLS via Orphanet