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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NIH Rare Diseases:42 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 based summary: Desmoplastic Small Round Cell Tumor, also known as desmoplastic small round-cell tumor, is related to alveolar rhabdomyosarcoma and synovial sarcoma, and has symptoms including acute abdominal pain/colic, 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 lung, bone and ovary, and related mouse phenotypes are muscle and normal.

Wikipedia:65 Desmoplastic small-round-cell tumor is an aggressive and rare cancer that primarily occurs as masses in... more...

Aliases & Classifications for Desmoplastic Small Round Cell Tumor

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Sources:
42NIH Rare Diseases, 44Novoseek, 48Orphanet, 62UMLS, 63UMLS via Orphanet, 35MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Desmoplastic Small Round Cell Tumor, Aliases & Descriptions:

Name: Desmoplastic Small Round Cell Tumor 42 48 62
Desmoplastic Small Round-Cell Tumor 42 44
 
Dsrct 42 48


Classifications:

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


Characteristics (Orphanet epidemiological data):

48
desmoplastic small round cell tumor:
Inheritance: Sporadic; Age of onset: Adolescence / Young adulthood


External Ids:

UMLS via Orphanet63 C0281508
MESH via Orphanet35 D058405
ICD10 via Orphanet26 C48.2

Related Diseases for Desmoplastic Small Round Cell Tumor

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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 95)
idRelated DiseaseScoreTop Affiliating Genes
1alveolar rhabdomyosarcoma31.4WT1, DES
2synovial sarcoma31.3DES, S100B
3neuroectodermal tumor31.1SYP, EWSR1
4sarcoma31.0WT1, S100B, ACTC1, EWSR1, DES
5wilms tumor31.0DES, EWSR1, ACTC1, WT1
6malignant peripheral nerve sheath tumor30.8ACTC1, S100B
7rhabdomyosarcoma30.6DES, EWSR1, ACTC1, S100B, WT1
8gastrointestinal stromal tumor30.6DES, ACTC1, S100B
9adenocarcinoma30.0WT1, SYP, ACTC1, TGFB3
10melanoma29.9S100B, ACTC1, TGFB3, EWSR1, DES
11peritonitis10.7
12hepatitis10.6
13cerebral primitive neuroectodermal tumor10.5EWSR1
14metanephric adenoma10.5WT1
15infantile myofibromatosis10.5DES
16fibrous histiocytoma10.5EWSR1
17peripheral primitive neuroectodermal tumor10.5EWSR1
18adenomatoid tumor10.5WT1
19fibrous meningioma10.4S100B
20fasciitis10.4ACTC1
21syringoma10.4S100B
22acute lymphoblastic leukemia10.4
23gastric cancer10.4
24hypertension10.4
25leukemia10.4
26sertoli-leydig cell tumor10.4
27hypoglycemia10.4
28hepatoblastoma10.4
29leydig cell tumor10.4
30lymphoblastic leukemia10.4
31neuroblastoma10.4
32ovarian cancer10.4
33ewing's family of tumors10.4
34cor pulmonale10.4
35solitary fibrous tumor10.4
36melanoma of soft parts10.4
37histiocytosis10.4S100B
38subependymal giant cell astrocytoma10.4SYP
39dysembryoplastic neuroepithelial tumor10.4SYP
40nephroblastoma10.3WT1, EWSR1
41adenosarcoma10.3DES, ACTC1
42epithelioid leiomyosarcoma10.3DES, ACTC1
43pseudosarcomatous fibromatosis10.3DES, ACTC1
44spindle cell carcinoma10.2ACTC1, DES
45desmoid tumor10.2DES, ACTC1
46liposarcoma10.2EWSR1, DES
47endometrial stromal sarcoma10.2ACTC1, DES
48angiomyolipoma10.2DES, ACTC1
49fibroma10.2DES, ACTC1
50chordoma10.2DES, 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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Symptoms:

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

HPO human phenotypes related to Desmoplastic Small Round Cell Tumor:

(show all 17)
id Description Frequency HPO Source Accession
1 abdominal pain hallmark (90%) HP:0002027
2 abnormality of the peritoneum hallmark (90%) HP:0002585
3 neoplasm of the gastrointestinal tract hallmark (90%) HP:0007378
4 sarcoma hallmark (90%) HP:0100242
5 weight loss typical (50%) HP:0001824
6 nausea and vomiting typical (50%) HP:0002017
7 hepatomegaly typical (50%) HP:0002240
8 intestinal obstruction typical (50%) HP:0005214
9 mediastinal lymphadenopathy typical (50%) HP:0100721
10 abnormality of the testis occasional (7.5%) HP:0000035
11 ascites occasional (7.5%) HP:0001541
12 anemia occasional (7.5%) HP:0001903
13 neoplasm of the pancreas occasional (7.5%) HP:0002894
14 neoplasm of the nervous system occasional (7.5%) HP:0004375
15 neoplasm of the lung occasional (7.5%) HP:0100526
16 ovarian neoplasm occasional (7.5%) HP:0100615
17 neoplasia of the nose occasional (7.5%) HP:0100637

Drugs & Therapeutics for Desmoplastic Small Round Cell Tumor

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Drug clinical trials:

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

32
Lung, Bone, Ovary, Liver, Lymph node, Spleen, Brain, Spinal cord, Small intestine, Bone marrow, Kidney, Pancreas, Testis, Salivary gland, T cells

Animal Models for Desmoplastic Small Round Cell Tumor or affiliated genes

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MGI Mouse Phenotypes related to Desmoplastic Small Round Cell Tumor:

36
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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Articles related to Desmoplastic Small Round Cell Tumor:

(show top 50)    (show all 240)
idTitleAuthorsYear
1
Complete Cytoreduction and HIPEC Improves Survival in Desmoplastic Small Round Cell Tumor. (24046124)
2014
2
Primary abdominopelvic desmoplastic small round cell tumor: CT and correlated clinicopathologic features. (25317802)
2014
3
Primary intra-renal desmoplastic small round cell tumor: Expanding the histologic spectrum, with special emphasis on the differential diagnostic considerations. (24953786)
2014
4
Intra-abdominal desmoplastic small round cell tumor in a 45-year-old man: a case report. (24026998)
2013
5
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
6
Metastatic desmoplastic small round cell tumor controlled by an anthracycline-based regimen: review of the role of chemotherapy. (21301996)
2012
7
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
8
Clinical outcomes of patients with desmoplastic small round cell tumor of the peritoneum undergoing autologous HCT: a CIBMTR retrospective analysis. (22465977)
2012
9
The diagnosis and management of desmoplastic small round cell tumor: a review. (21577112)
2011
10
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
11
Long-term remission after CD34+-selected PBSCT in a patient with advanced intra-abdominal desmoplastic small round-cell tumor. (19718066)
2010
12
Novel treatment for desmoplastic small round cell tumor: hyperthermic intraperitoneal perfusion. (20438942)
2010
13
Advanced desmoplastic small round cell tumor: near complete response with trastuzumab-based chemotherapy. (19701155)
2009
14
Desmoplastic small round cell tumor of the kidney. (19358490)
2009
15
Retroperitoneal desmoplastic small round cell tumor: pediatric patient treated with multimodal therapy. (19725162)
2009
16
A case of desmoplastic small round cell tumor diagnosed in a young female patient. (20057970)
2009
17
A new molecular variant of desmoplastic small round cell tumor: significance of WT1 immunostaining in this entity. (18703217)
2008
18
Outpatient and home chemotherapy with novel local control strategies in desmoplastic small round cell tumor. (18566684)
2008
19
Desmoplastic small round cell tumor: a clinical, pathological, and immunohistochemical study of 18 Chinese cases. (18573782)
2008
20
Response to vinorelbine and low-dose cyclophosphamide chemotherapy in two patients with desmoplastic small round cell tumor. (16302215)
2007
21
Desmoplastic small round cell tumor: using FISH as an ancillary technique to support cytologic diagnosis in an unusual case. (17636487)
2007
22
Desmoplastic small round cell tumor of the pelvis: MRI findings with histopathologic correlation. (16534600)
2007
23
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
24
Primary desmoplastic small round cell tumor of the kidney in a 7-year-old girl. (18947596)
2006
25
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
26
Desmoplastic small round cell tumor: a potentially lethal neoplasm manifesting in the orbit with associated visual symptoms. (15824236)
2005
27
Desmoplastic small round cell tumor in the abdomen and pelvis: report of CT findings in 11 affected children and young adults. (15908552)
2005
28
Uncommon malignancies: case 3. Paratesticular desmoplastic small round-cell tumor. (16135493)
2005
29
Primary desmoplastic small round cell tumor of bone: report of a case with cytogenetic confirmation. (15642398)
2005
30
Desmoplastic small round cell tumor of the kidney. (15371955)
2004
31
Unusual aspects of desmoplastic small round cell tumor. (15205108)
2004
32
Desmoplastic small round cell tumor: report of a case presenting as a primary ovarian neoplasm. (12094954)
2002
33
Desmoplastic small round cell tumor presenting as a neck mass: a case report. (11466817)
2001
34
Intraabdominal desmoplastic small round cell tumor: report of a case with fine needle aspiration, cytologic diagnosis and molecular confirmation. (11480729)
2001
35
General case of the day. Desmoplastic small round cell tumor of the abdomen with scrotal metastases. (9925405)
1999
36
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
37
Intra-abdominal desmoplastic small round cell tumor: immunohistochemical evidence for up-regulation of autocrine and paracrine growth factors. (9846206)
1998
38
Desmoplastic small round cell tumor: I: a histopathologic study of 39 cases with emphasis on unusual histological patterns. (9808123)
1998
39
Desmoplastic small round cell tumor: RT-PCR analysis and immunohistochemical detection of the Wilm's tumor gene WT1. (9820865)
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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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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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 cardiomyopathy37
8.7ACTC1, TGFB3, DES

Compounds for genes affiliated with Desmoplastic Small Round Cell Tumor

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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 bromide449.8DES, S100B
2l-amino acid449.7SYP, S100B
3quinine44 28 2 50 1113.6SLC29A4, S100B
4procollagen449.5ACTC1, DES
5ganglioside449.5SYP, DES
6orcein449.5S100B, ACTC1, DES
7proline449.4WT1, S100B, DES
8etoposide44 50 61 1112.3WT1, S100B, SYP
9histidine449.3WT1, S100B, SYP
10cyclosporin a44 28 6111.3ACTC1, S100B, WT1
114-hydroxytamoxifen449.2TGFB3, S100B
12progestin449.2TGFB3, DES
13dbc-amp449.2SYP, S100B
14acetylcholine44 50 28 24 1113.2DES, SYP, S100B
15iron44 2410.2S100B, ACTC1, DES
16forskolin44 50 1111.2SYP, S100B, WT1
17arginine449.2DES, EWSR1, S100B, WT1
18silver449.1SYP, DES
19ccl444 2810.1S100B, TGFB3, DES
20ribonucleic acid449.1TGFB3, ACTC1, WT1
21imatinib44 50 1111.1DES, ACTC1, S100B, WT1
22glutamine449.0WT1, S100B, SYP, EWSR1
23estradiol44 24 1110.9SYP, TGFB3, DES
24norepinephrine44 24 1110.9DES, SYP, S100B, SLC29A4
25cysteine448.9DES, SYP, S100B, WT1
26s 100448.8DES, ACTC1, SYP, S100B
27reticulin448.8S100B, SYP, ACTC1, DES
28mucicarmine448.8DES, ACTC1, SYP, S100B
29hematoxylin448.8DES, ACTC1, SYP, S100B
30formaldehyde44 249.8S100B, SYP, ACTC1, DES
31glycogen44 249.8DES, ACTC1, SYP, S100B
32thymidine44 249.7DES, TGFB3, S100B, WT1
33serine448.6DES, EWSR1, SYP, S100B, WT1
34oxygen44 249.5S100B, ACTC1, TGFB3, DES
35ethanol44 50 24 1111.5DES, TGFB3, SYP, S100B
36b 723448.5WT1, S100B, SYP, ACTC1, DES
37creatinine448.4DES, ACTC1, SYP, S100B, WT1
38dopamine44 28 24 1111.4TGFB3, SYP, S100B, SLC29A4
39dexamethasone44 50 28 1111.3S100B, SYP, ACTC1, TGFB3
40calcium44 50 24 1111.3S100B, SYP, ACTC1, EWSR1, DES
41cyclic amp44 249.2S100B, SYP, TGFB3, EWSR1, DES
42nitric oxide44 24 1110.1DES, TGFB3, SYP, S100B, WT1
43progesterone44 28 61 24 1111.6DES, TGFB3, ACTC1, SYP, S100B, WT1
44testosterone44 61 24 1110.6DES, TGFB3, ACTC1, SYP, S100B, WT1
45steroid447.6DES, TGFB3, ACTC1, SYP, S100B, WT1
46vegf447.6DES, TGFB3, ACTC1, SYP, S100B, WT1
47estrogen447.6DES, TGFB3, ACTC1, SYP, S100B, WT1
48paraffin447.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B
49retinoic acid44 248.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B
50tyrosine447.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B

GO Terms for genes affiliated with Desmoplastic Small Round Cell Tumor

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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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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