DSRCT
MCID: DSM007
MIFTS: 51

Desmoplastic Small Round Cell Tumor (DSRCT) malady

Cancer category

Summaries for Desmoplastic Small Round Cell Tumor

Sources:
43NIH Rare Diseases, 64Wikipedia, 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 synovial sarcoma and wilms tumor, 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 CDO in myogenesis and Id Signaling Pathway. The compounds procollagen and askin have been mentioned in the context of this disorder. Affiliated tissues include bone marrow, lymph node and spleen, and related mouse phenotypes are respiratory system and muscle.

Wikipedia:64 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

Sources:
43NIH Rare Diseases, 45Novoseek, 49Orphanet, 61UMLS, 36MESH via Orphanet, 26ICD10 via Orphanet, 58SNOMED-CT via Orphanet, 62UMLS via Orphanet
See all sources

Classifications:

Malacards categories (disease lists): (See all malacards categories)
Global: Cancer


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 61
desmoplastic small round-cell tumor 43 45
dsrct 43 49


External Ids:

MESH via Orphanet36 D058405
ICD10 via Orphanet26 C48.2
SNOMED-CT via Orphanet58 128735004
UMLS via Orphanet62 C0281508

Related Diseases for Desmoplastic Small Round Cell Tumor

Sources:
17GeneCards, 18GeneDecks
See all sources

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

(show top 50)    (show all 130)
idRelated DiseaseScoreTop Affiliating Genes
1synovial sarcoma31.0DES, MUC1, CALB2
2wilms tumor31.0ENO2, ACTC1, MYOG, CALB2, PDGFA, EWSR1
3alveolar rhabdomyosarcoma30.7DES, MYOD1, MYOG, ENO2, WT1
4sertoli-leydig cell tumor30.5CALB2, WT1, MUC1
5gastrointestinal stromal tumor30.5ENO2, DES, ACTC1
6sertoli cell tumor30.5SYP, MUC1, ENO2, ALPP, CALB2, DES
7small cell sarcoma10.9
8acute t cell leukemia10.4
9meckel's diverticulum10.4
10hypoglycemia10.4
11fibrous synovial sarcoma10.4
12acute leukemia10.4
13stomach cancer10.4
14t-cell leukemia10.4
15solitary fibrous tumor10.4
16leydig cell tumor10.0CALB2
17thymoma10.0CALB2
18metanephric adenoma10.0WT1
19alveolar soft part sarcoma10.0MYOD1
20melanotic neuroectodermal tumor10.0SYP
21infantile myofibromatosis10.0DES
22hemangioma10.0ACTC1
23ovarian small cell carcinoma10.0TTF1
24central nervous system cancer10.0ENO2
25nephroblastoma10.0WT1, EWSR1
26pancreatitis10.0ALPP
27adenomatoid tumor10.0CALB2, WT1
28fibrous meningioma10.0MUC1
29malignant mesenchymoma10.0MYOD1, MYOG
30angiomyolipoma10.0DES, ACTC1
31adenosarcoma10.0DES, ACTC1
32cystadenocarcinoma10.0MUC1
33testicular cancer10.0ALPP
34sex cord-gonadal stromal tumor10.0CALB2
35fasciitis10.0ACTC1
36lipoma10.0DES
37benign mesothelioma10.0CALB2, WT1
38myoepithelioma10.0EWSR1, ACTC1
39endometriosis10.0CALB2, ACTC1
40mesenchymal chondrosarcoma10.0DES, MUC1
41desmoid tumor10.0ACTC1, DES
42epithelioid leiomyosarcoma10.0ACTC1, DES
43liposarcoma10.0EWSR1, DES, CALB2
44dysgerminoma10.0WT1, ALPP
45extraskeletal ewing sarcoma10.0MYOD1, EWSR1, CD99
46epulis10.0ENO2
47pulmonary fibrosis10.0PDGFA, TGFB3
48rhabdoid cancer10.0ENO2
49liver cirrhosis10.0PDGFA, TGFB3
50neuropathy10.0MYOG, MYOD1

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



Diseases related to desmoplastic small round cell tumor

Clinical Features for Desmoplastic Small Round Cell Tumor

Sources:
49Orphanet
See all sources


Symptoms:

49 (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

Drugs & Therapeutics for Desmoplastic Small Round Cell Tumor

Sources:
5CenterWatch, 42NIH Clinical Center, 6ClinicalTrials, 61UMLS, 41NDF-RT
See all sources

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

Anatomical Context for Desmoplastic Small Round Cell Tumor

Sources:
33MalaCards
See all sources

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

33
Bone marrow, Lymph node, Spleen, Brain, Spinal cord, Small intestine, Kidney, Liver, Lung, Pancreas, Salivary gland, Ovary, Testis, T cells, Testis leydig

Animal Models for Desmoplastic Small Round Cell Tumor or affiliated genes

Sources:
37MGI, 28inGenious Targeting Laboratory
See all sources

MGI Mouse Phenotypes related to Desmoplastic Small Round Cell Tumor:

37
idDescriptionMGI Source AccessionScoreTop Affiliating Genes
1MP:00053889.7TGFB3, ENO2, MYOG, MYOD1, MYF5
2MP:00053699.5PDGFA, WT1, MYF5, MYOD1, ACTC1
3MP:00028738.9TGFB3, CALB2, EWSR1, WT1, SYP, MYF5

Publications for Desmoplastic Small Round Cell Tumor

Sources:
51PubMed
See all sources

Articles related to Desmoplastic Small Round Cell Tumor:

(show top 50)    (show all 221)
idTitleAuthorsYear
1
Desmoplastic small round cell tumor: A rare cause of a progressive brachial plexopathy. (24395394)
2014
2
Intra-abdominal desmoplastic small round cell tumor in a 45-year-old man: a case report. (24026998)
2013
3
ThinPrep Cytological Findings of Desmoplastic Small Round Cell Tumor with Extensive Glandular Differentiation: A Case Study. (23667380)
2013
4
Metastatic desmoplastic small round cell tumor controlled by an anthracycline-based regimen: review of the role of chemotherapy. (21301996)
2012
5
Pulmonary tumor thrombotic microangiopathy with cor pulmonale due to desmoplastic small round cell tumor. (22240106)
2012
6
Phase II study of ganitumab, a fully human anti-type-1 insulin-like growth factor receptor antibody, in patients with metastatic Ewing family tumors or desmoplastic small round cell tumors. (22508822)
2012
7
Clinicopathological investigation of four cases of desmoplastic small round cell tumor. (23741244)
2012
8
The diagnosis and management of desmoplastic small round cell tumor: a review. (21577112)
2011
9
Intraabdominal desmoplastic small round cell tumor: Report of a case and literature review. (22096758)
2011
10
Desmoplastic small round cell tumor of the pancreas: An unusual primary site for an uncommon tumor. (21731236)
2011
11
Desmoplastic small round cell tumor of the mandible in a child with unusual plantar metastasis. (20445411)
2010
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
Desmoplastic small round cell tumor: impact of F-FDG PET induced treatment strategy in a patient with long-term outcome. (21139890)
2009
15
Review: desmoplastic small round cell tumor: current treatment approach and role of targeted therapy. (19701156)
2009
16
Desmoplastic small round cell tumor: a clinical, pathological, and immunohistochemical study of 18 Chinese cases. (18573782)
2008
17
Bone marrow metastasis of desmoplastic small round cell tumor. (18038889)
2007
18
Desmoplastic small round cell tumor of the kidney in childhood. (17414105)
2007
19
Desmoplastic small round cell tumor in childhood: the St. Jude Children's Research Hospital experience. (16685737)
2007
20
Desmoplastic small round cell tumor of Meckels diverticulum. (17664485)
2007
21
Primary desmoplastic small round cell tumor of the kidney: a case report in a 14-year-old girl with molecular confirmation. (17638432)
2007
22
Intra-abdominal desmoplastic small round cell tumor. (17312655)
2006
23
Unusual aspects of desmoplastic small round cell tumor. (15205108)
2004
24
Desmoplastic small round cell tumor. (15049027)
2004
25
Intraabdominal desmoplastic small round cell tumor: results of ifosfamide-based chemotherapy. (15108047)
2004
26
Occult lymph node metastasis from desmoplastic small round cell tumor diagnosed by fine needle aspiration cytology. A case report. (12789940)
2003
27
Intra-abdominal desmoplastic small round cell tumor with elevated serum CA 125: a case report. (14620681)
2003
28
Pathologic quiz case: a 13-year-old boy with multiple abdominal masses. Desmoplastic small round cell tumor. (12873201)
2003
29
Desmoplastic small round cell tumor of the lung. (12823031)
2003
30
Cytology of desmoplastic small round cell tumor. (11836699)
2002
31
Desmoplastic small round cell tumor presenting in the ovaries: report of a case and review of the literature. (12445256)
2002
32
Desmoplastic small round cell tumor of the lung. (12296765)
2002
33
Synovial sarcoma mimicking desmoplastic small round-cell tumor: critical role for molecular diagnosis. (10696138)
2000
34
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
35
Desmoplastic small round-cell tumor of the paratesticular region: report of an adult case with demonstration of EWS and WT1 gene fusion using paraffin-embedded tissue. (10430278)
1999
36
The expanding clinical spectrum of desmoplastic small round-cell tumor: a report of two cases with molecular confirmation. (10208465)
1999
37
F-18 fluorodeoxyglucose positron emission tomographic imaging in desmoplastic small round cell tumor of the abdomen. (10478748)
1999
38
Urogenital involvement by desmoplastic small round-cell tumor. (9302152)
1997
39
Disseminated intrathoracic desmoplastic small round-cell tumor: a case report. (9149753)
1997
40
Desmoplastic small round cell tumor presenting in pleural fluid and accompanied by desmin-positive mesothelial cells. (7887076)
1995
41
Desmoplastic small round cell tumor of the pleura. (7755152)
1995
42
Intra-abdominal desmoplastic small round cell tumor with extensive extra-abdominal involvement. (8597865)
1995
43
Urological aspects of intra-abdominal desmoplastic small round cell tumor of childhood: a preliminary report. (8254807)
1994
44
Fusion of the EWS and WT1 genes in the desmoplastic small round cell tumor. (8187063)
1994
45
The EWS gene, involved in Ewing family of tumors, malignant melanoma of soft parts and desmoplastic small round cell tumors, codes for an RNA binding protein with novel regulatory domains. (8084618)
1994
46
Novel oncogenic mutations in the WT1 Wilms' tumor suppressor gene: a t(11;22) fuses the Ewing's sarcoma gene, EWS1, to WT1 in desmoplastic small round cell tumor. (7587063)
1994
47
Effusion cytology of desmoplastic small round cell tumor of the pleura. A case report. (7679537)
1993
48
Intraabdominal desmoplastic small round cell tumor. Report of a case diagnosed by fine needle aspiration cytology. (1580121)
1992
49
A novel reciprocal chromosome translocation t(11;22)(p13;q12) in an intraabdominal desmoplastic small round-cell tumor. (1314522)
1992
50
Intra-abdominal desmoplastic small round-cell tumor. Report of 19 cases of a distinctive type of high-grade polyphenotypic malignancy affecting young individuals. (1709557)
1991

Genetic Variations for Desmoplastic Small Round Cell Tumor

Expression for genes affiliated with Desmoplastic Small Round Cell Tumor

Sources:
1BioGPS, 15Gene Expression Omnibus DataSets
See all sources
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

Sources:
54Reactome, 38NCBI BioSystems Database, 30KEGG
See all sources

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

idSuper pathways (with members indented)ScoreTop Affiliating Genes
1
Hide members
10.3MYF5
210.0MYOG, MYOD1, MYF5
39.8TSPAN7, BAIAP3, WT1, EWSR1, PDGFA

Compounds for genes affiliated with Desmoplastic Small Round Cell Tumor

Sources:
45Novoseek, 50PharmGKB, 11DrugBank, 24HMDB, 29IUPHAR, 2BitterDB, 60Tocris Bioscience
See all sources

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

(show all 50)
idCompoundScoreTop Affiliating Genes
1procollagen4510.7ALPP
2askin4510.5ENO2, EWSR1
3estrogen4510.5CALB2, MYOD1, MYOG
4butyrate4510.4CALB2, MYOD1, MYOG
5reticulin4510.4DES, SYP, MUC1, ACTC1
6orcein4510.4ACTC1, DES
7smcc4510.4SYP, ENO2
8progestin4510.3DES, MUC1, ALPP, TGFB3
9mucicarmine4510.3CALB2, DES, SYP, MUC1, ACTC1
10s 1004510.3DES, SYP, MUC1, ACTC1, ENO2
11silver4510.2CALB2, DES, SYP, ENO2
12ethanol45 50 11 2413.2CALB2, DES, SYP, MUC1, TGFB3
13formaldehyde45 2411.2DES, SYP, MUC1, ACTC1, ENO2
14hyaluronic acid45 2411.2ENO2, MUC1, DES, WT1, CALB2
15ganglioside4510.2DES, SYP, ENO2
16glucose4510.2ACTC1, MUC1, MYOG
17bromodeoxyuridine4510.1DES, MYF5, MYOD1, MYOG, ENO2
18dopamine45 29 11 2413.1TGFB3, ENO2, SLC29A4, CALB2
19choline45 11 2412.1ALPP, ENO2, SYP, CALB2
20glycogen45 2411.1DES, SYP, MUC1, ACTC1, ENO2
2112-o-tetradecanoylphorbol 13-acetate4510.1PDGFA, WT1, DES, MYOD1, MYOG, MUC1
22hematoxylin4510.1CALB2, DES, SYP, MUC1, ACTC1, ENO2
23creatinine4510.1ALPP, ACTC1, MYOD1, MYF5, SYP, WT1
24chloramphenicol45 2 1112.1ALPP, MUC1, MYOD1, WT1
25norepinephrine45 11 2412.1DES, SYP, SLC29A4, ENO2, ALPP
26toluidine4510.1DES, ENO2
27forskolin45 50 1112.1ENO2, MUC1, MYOG, SYP, WT1
28b 7234510.0CALB2, WT1, DES, SYP, MUC1, ACTC1
29acetylcholine45 50 29 11 2414.0CALB2, SYP, MYF5, MYOD1, MYOG, ENO2
30cyclic amp45 2411.0PDGFA, EWSR1, DES, SYP, MYOD1, MUC1
31oligonucleotide4510.0PDGFA, EWSR1, WT1, MYOD1, MYOG, TGFB3
32ribonucleic acid459.9PDGFA, WT1, MYOG, MUC1, ACTC1, ENO2
33cisplatin45 50 60 1112.9SYP, BAIAP3, MUC1, ENO2, ALPP
34thymidine45 2410.9CALB2, WT1, DES, MUC1, ENO2, ALPP
35cysteine459.9WT1, DES, SYP, MYOD1, MYOG, MUC1
36steroid459.9CALB2, WT1, DES, SYP, MYOD1, MYOG
37biotin45 11 2411.8ACTC1, MUC1, DES
38dexamethasone45 50 29 1112.8PDGFA, SYP, MUC1, ACTC1, ENO2, ALPP
39nitric oxide45 11 2411.8CALB2, WT1, DES, SYP, MYOG, MUC1
40pd 98,059459.8ALPP, ENO2, MYOG, PDGFA
41cholesterol45 29 11 2412.7SYP, MUC1, ENO2, TSPAN7, ALPP
42oxygen45 2410.7PDGFA, DES, MYOD1, MYOG, MUC1, ACTC1
43progesterone45 60 29 11 2413.7CALB2, PDGFA, WT1, DES, SYP, MUC1
44serine459.7EWSR1, WT1, DES, SYP, MYF5, MYOD1
45testosterone45 60 11 2412.4CALB2, WT1, DES, SYP, MYOD1, MYOG
46tyrosine459.3DES, WT1, EWSR1, PDGFA, CALB2, SYP
47vegf459.3MYOD1, SYP, DES, WT1, PDGFA, MYOG
48calcium45 50 11 2412.2CALB2, PDGFA, EWSR1, DES, SYP, MYF5
49retinoic acid45 2410.1PDGFA, EWSR1, WT1, DES, SYP, MYF5
50paraffin459.0TGFB3, CALB2, PDGFA, EWSR1, WT1, DES

GO Terms for genes affiliated with Desmoplastic Small Round Cell Tumor

Sources:
16Gene Ontology
See all sources

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

idNameGO IDScoreTop Affiliating Genes
1cellular response to estradiol stimulusGO:07139210.2MYOG, MYOD1
2muscle cell fate commitmentGO:04269310.2MYOG, MYOD1, MYF5
3positive regulation of muscle cell differentiationGO:05114910.1MYOG, MYOD1, MYF5
4muscle cell differentiationGO:04269210.0MYF5, MYOD1, MYOG
5skeletal muscle tissue developmentGO:0075199.9MYOG, MYOD1, MYF5
6skeletal muscle fiber developmentGO:0487419.9MYOG, MYOD1

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

idNameGO IDScoreTop Affiliating Genes
1protein heterodimerization activityGO:0469829.7TGFB3, MYOG, MYOD1, MYF5, PDGFA
2E-box bindingGO:0708889.7MYOG, MYOD1, MYF5

Products for genes affiliated with Desmoplastic Small Round Cell Tumor

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Sources for Desmoplastic Small Round Cell Tumor

3CDC
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
51PubMed
52QIAGEN
58SNOMED-CT via Orphanet
61UMLS
62UMLS via Orphanet