MCID: DSM007
MIFTS: 47

Desmoplastic Small Round Cell Tumor malady

Rare diseases, Cancer diseases categories

Aliases & Classifications for Desmoplastic Small Round Cell Tumor

About this section
Sources:
41NIH Rare Diseases, 43Novoseek, 47Orphanet, 60UMLS, 61UMLS via Orphanet, 34MESH via Orphanet, 26ICD10 via Orphanet
See all sources

Desmoplastic Small Round Cell Tumor, Aliases & Descriptions:

Name: Desmoplastic Small Round Cell Tumor 41 47 60
Desmoplastic Small Round-Cell Tumor 41 43
 
Dsrct 41 47


Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Rare diseases, Cancer diseases
Orphanet: 47 
Rare tumors


Characteristics (Orphanet epidemiological data):

47
desmoplastic small round cell tumor:
Inheritance: Not applicable; Prevalence: <1/1000000 (Europe); Age of onset: Adolescent,Adult


External Ids:

Orphanet47 83469
UMLS via Orphanet61 C0281508
MESH via Orphanet34 D058405
ICD10 via Orphanet26 C48.2

Summaries for Desmoplastic Small Round Cell Tumor

About this section


NIH Rare Diseases:41 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 wilms tumor and ewing's family of tumors, and has symptoms including abdominal pain, abnormality of the peritoneum and neoplasm of the gastrointestinal tract. 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:63 Desmoplastic small-round-cell tumor is an aggressive and rare cancer that primarily occurs as masses in... more...

Related Diseases for Desmoplastic Small Round Cell Tumor

About this section

Diseases related to Desmoplastic Small Round Cell Tumor via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50)    (show all 93)
idRelated DiseaseScoreTop Affiliating Genes
1wilms tumor31.5EWSR1, WT1
2ewing's family of tumors31.4EWSR1
3neuroectodermal tumor31.1SYP, EWSR1
4sarcoma31.0WT1, S100B, ACTC1, EWSR1, DES
5ewing sarcoma31.0EWSR1, WT1, DES, S100B
6malignant peripheral nerve sheath tumor30.8ACTC1, S100B
7rhabdomyosarcoma30.6WT1, DES, EWSR1, ACTC1, S100B
8gastrointestinal stromal tumor30.6DES, S100B, ACTC1
9adenocarcinoma30.0WT1, TGFB3, ACTC1, SYP
10melanoma29.9S100B, DES, EWSR1, ACTC1, TGFB3
11peritonitis10.7
12hepatitis10.6
13metanephric adenoma10.5WT1
14infantile myofibromatosis10.5DES
15peripheral primitive neuroectodermal tumor10.5EWSR1
16fibrous histiocytoma10.5EWSR1
17adenomatoid tumor10.5WT1
18fibrous meningioma10.4S100B
19fasciitis10.4ACTC1
20syringoma10.4S100B
21insulin-like growth factor i10.4
22neuroblastoma10.4
23leukemia10.4
24sertoli-leydig cell tumor10.4
25hypoglycemia10.4
26cervicitis10.4
27hepatoblastoma10.4
28leydig cell tumor10.4
29lymphoblastic leukemia10.4
30cor pulmonale10.4
31melanoma of soft parts10.4
32histiocytosis10.4S100B
33subependymal giant cell astrocytoma10.4SYP
34dysembryoplastic neuroepithelial tumor10.3SYP
35rhabdomyosarcoma 2, alveolar10.3DES, WT1
36adenosarcoma10.3ACTC1, DES
37epithelioid leiomyosarcoma10.3ACTC1, DES
38pseudosarcomatous fibromatosis10.2DES, ACTC1
39spindle cell carcinoma10.2DES, ACTC1
40desmoid disease, hereditary10.2ACTC1, DES
41liposarcoma10.2EWSR1, DES
42endometrial stromal sarcoma10.2DES, ACTC1
43angiomyolipoma10.2ACTC1, DES
44fibroma10.2ACTC1, DES
45chordoma10.2DES, S100B
46papilloma10.2ACTC1
47sertoli cell tumor10.2SYP, DES
48ganglioglioma10.2S100B, SYP
49papillary ependymoma10.2S100B, SYP
50olfactory neuroblastoma10.2S100B, SYP

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

About this section

Symptoms:

 47 (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

About this section

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

About this section

Anatomical Context for Desmoplastic Small Round Cell Tumor

About this section

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

31
Lung, Bone, Ovary, Liver, Lymph node, Spleen, Brain, Spinal cord, Small intestine, Bone marrow, Pancreas, Testis, Kidney, Salivary gland, T cells

Animal Models for Desmoplastic Small Round Cell Tumor or affiliated genes

About this section

MGI Mouse Phenotypes related to Desmoplastic Small Round Cell Tumor:

35
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

About this section

Articles related to Desmoplastic Small Round Cell Tumor:

(show top 50)    (show all 249)
idTitleAuthorsYear
1
Intracranial desmoplastic small round cell tumor presenting as a suprasellar mass. (25479120)
2015
2
Complete Cytoreduction and HIPEC Improves Survival in Desmoplastic Small Round Cell Tumor. (24046124)
2014
3
Primary abdominopelvic desmoplastic small round cell tumor: CT and correlated clinicopathologic features. (25317802)
2014
4
Primary intra-renal desmoplastic small round cell tumor: Expanding the histologic spectrum, with special emphasis on the differential diagnostic considerations. (24953786)
2014
5
Intra-abdominal desmoplastic small round cell tumor in a 45-year-old man: a case report. (24026998)
2013
6
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
7
Metastatic desmoplastic small round cell tumor controlled by an anthracycline-based regimen: review of the role of chemotherapy. (21301996)
2012
8
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
9
Clinical outcomes of patients with desmoplastic small round cell tumor of the peritoneum undergoing autologous HCT: a CIBMTR retrospective analysis. (22465977)
2012
10
The diagnosis and management of desmoplastic small round cell tumor: a review. (21577112)
2011
11
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
12
Long-term remission after CD34+-selected PBSCT in a patient with advanced intra-abdominal desmoplastic small round-cell tumor. (19718066)
2010
13
Novel treatment for desmoplastic small round cell tumor: hyperthermic intraperitoneal perfusion. (20438942)
2010
14
Advanced desmoplastic small round cell tumor: near complete response with trastuzumab-based chemotherapy. (19701155)
2009
15
Desmoplastic small round cell tumor of the kidney. (19358490)
2009
16
Retroperitoneal desmoplastic small round cell tumor: pediatric patient treated with multimodal therapy. (19725162)
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

About this section

Expression for genes affiliated with Desmoplastic Small Round Cell Tumor

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

Pathways for genes affiliated with Desmoplastic Small Round Cell Tumor

About this section

Pathways related to Desmoplastic Small Round Cell Tumor according to GeneCards Suite gene sharing:

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Show member pathways
9.5ACTC1, DES
2
Show member pathways
Arrhythmogenic right ventricular cardiomyopathy36
8.7ACTC1, TGFB3, DES

Compounds for genes affiliated with Desmoplastic Small Round Cell Tumor

About this section

Compounds related to Desmoplastic Small Round Cell Tumor according to GeneCards Suite gene sharing:

(show all 50)
idCompoundScoreTop Affiliating Genes
13-(4,5-dimethylthiazol-2-yl)-2,5-diphenyltetrazolium bromide439.8DES, S100B
2l-amino acid439.7SYP, S100B
3quinine43 28 2 49 1213.6SLC29A4, S100B
4procollagen439.5ACTC1, DES
5ganglioside439.5SYP, DES
6orcein439.5S100B, ACTC1, DES
7proline439.4WT1, S100B, DES
8etoposide43 49 59 1212.3WT1, S100B, SYP
9histidine439.3WT1, S100B, SYP
10cyclosporin a43 28 5911.3ACTC1, S100B, WT1
114-hydroxytamoxifen439.2TGFB3, S100B
12progestin439.2TGFB3, DES
13dbc-amp439.2SYP, S100B
14acetylcholine43 49 28 24 1213.2DES, SYP, S100B
15iron43 2410.2S100B, ACTC1, DES
16forskolin43 49 1211.2SYP, S100B, WT1
17arginine439.2DES, EWSR1, S100B, WT1
18silver439.1SYP, DES
19ccl443 2810.1S100B, TGFB3, DES
20ribonucleic acid439.1TGFB3, ACTC1, WT1
21imatinib43 49 1211.1DES, ACTC1, S100B, WT1
22glutamine439.0WT1, S100B, SYP, EWSR1
23estradiol43 24 1210.9SYP, TGFB3, DES
24norepinephrine43 24 1210.9DES, SYP, S100B, SLC29A4
25cysteine438.9DES, SYP, S100B, WT1
26s 100438.8DES, ACTC1, SYP, S100B
27reticulin438.8S100B, SYP, ACTC1, DES
28mucicarmine438.8DES, ACTC1, SYP, S100B
29hematoxylin438.8DES, ACTC1, SYP, S100B
30formaldehyde43 249.8S100B, SYP, ACTC1, DES
31glycogen43 249.8DES, ACTC1, SYP, S100B
32thymidine43 249.7DES, TGFB3, S100B, WT1
33serine438.6DES, EWSR1, SYP, S100B, WT1
34oxygen43 249.5S100B, ACTC1, TGFB3, DES
35ethanol43 49 24 1211.5DES, TGFB3, SYP, S100B
36b 723438.5WT1, S100B, SYP, ACTC1, DES
37creatinine438.4DES, ACTC1, SYP, S100B, WT1
38dopamine43 28 24 1211.4TGFB3, SYP, S100B, SLC29A4
39dexamethasone43 49 28 1211.3S100B, SYP, ACTC1, TGFB3
40calcium43 49 24 1211.3S100B, SYP, ACTC1, EWSR1, DES
41cyclic amp43 249.2S100B, SYP, TGFB3, EWSR1, DES
42nitric oxide43 24 1210.1DES, TGFB3, SYP, S100B, WT1
43progesterone43 28 59 24 1211.6DES, TGFB3, ACTC1, SYP, S100B, WT1
44testosterone43 59 24 1210.6DES, TGFB3, ACTC1, SYP, S100B, WT1
45steroid437.6DES, TGFB3, ACTC1, SYP, S100B, WT1
46vegf437.6DES, TGFB3, ACTC1, SYP, S100B, WT1
47estrogen437.6DES, TGFB3, ACTC1, SYP, S100B, WT1
48paraffin437.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B
49retinoic acid43 248.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B
50tyrosine437.3DES, EWSR1, TGFB3, ACTC1, SYP, S100B

GO Terms for genes affiliated with Desmoplastic Small Round Cell Tumor

About this section

Biological processes related to Desmoplastic Small Round Cell Tumor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1muscle filament slidingGO:00300499.5ACTC1, DES
2regulation of neuronal synaptic plasticityGO:00481689.0S100B, SYP

Molecular functions related to Desmoplastic Small Round Cell Tumor according to GeneCards Suite gene sharing:

idNameGO IDScoreTop Affiliating Genes
1identical protein bindingGO:00428027.8S100B, SYP, TGFB3, EWSR1, DES

Products for genes affiliated with Desmoplastic Small Round Cell Tumor

About this section
  • Antibodies
  • Proteins
  • Lysates
  • Antibodies
  • Proteins
  • Kits and Assays

Sources for Desmoplastic Small Round Cell Tumor

About this section
3CDC
13ExPASy
14FMA
22GTR
23HGMD
24HMDB
25ICD10
26ICD10 via Orphanet
27ICD9CM
28IUPHAR
29KEGG
33MeSH
34MESH via Orphanet
35MGI
38NCIt
39NDF-RT
42NINDS
43Novoseek
45OMIM
46OMIM via Orphanet
50PubMed
51QIAGEN
56SNOMED-CT via Orphanet
60UMLS
61UMLS via Orphanet