Details of Disease

General Information of Disease (ID: DISLI2ME)

Disease Name Desmoplastic small round cell tumor
Synonyms
desmoplastic small-round-cell tumor; desmoplastic small-round-cell tumour; desmoplastic small round cell tumor; Desmoplas. small round cell tumour; Desmoplastic small round-cell neoplasm; Desmoplas. small round cell tumor; Desmoplastic small round cell tumor; Desmoplastic small round cell tumour; Desmoplastic small round-cell tumor; DSRCT; Polyphenotypic small round cell tumour; Polyphenotypic small round cell tumor; Desmoplastic small round-cell tumour
Definition
Desmoplastic small round cell tumor (DSRCT) is an aggressive soft tissue cancer that typically arises in serous lined surfaces of the abdominal or pelvic peritoneum, and spreads to the omentum, lymph nodes and hematogenously disseminates especially to the liver. Extraserous primary location has been reported in exceptional cases.
Disease Hierarchy
DISSN8XB: Soft tissue sarcoma
DISB5RLF: Small cell sarcoma
DISLI2ME: Desmoplastic small round cell tumor
Disease Identifiers
MONDO ID
MONDO_0019373
MESH ID
D058405
UMLS CUI
C0281508
MedGen ID
83833
Orphanet ID
83469
SNOMED CT ID
1156420003

Drug-Interaction Atlas (DIA) of This Disease

Drug-Interaction Atlas (DIA)
This Disease is Treated as An Indication in 2 Approved Drug(s)
Drug Name Drug ID Highest Status Drug Type REF
Aldesleukin DM4YMIS Approved NA [1]
Vitamin C DMXJ7O8 Approved Small molecular drug [1]
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Molecular Interaction Atlas (MIA) of This Disease

Molecular Interaction Atlas (MIA)
This Disease Is Related to 3 DTT Molecule(s)
Gene Name DTT ID Evidence Level Mode of Inheritance REF
SLC29A4 TTTR957 Strong Altered Expression [2]
TEC TT1ZV49 Strong Genetic Variation [3]
TSPAN7 TTMT6VE Strong Biomarker [4]
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This Disease Is Related to 12 DOT Molecule(s)
Gene Name DOT ID Evidence Level Mode of Inheritance REF
BCOR OTG013AX Limited Genetic Variation [5]
CIC OTFXCHNZ Limited Genetic Variation [5]
CCNB3 OT5V72D3 Strong Genetic Variation [6]
DES OTI09KBW Strong Biomarker [7]
ETV1 OT6PMJIK Strong Genetic Variation [3]
FLI1 OT0EV3LX Strong Genetic Variation [8]
FLII OT7G9JG6 Strong Biomarker [9]
PATZ1 OT0X9WGR Strong Biomarker [10]
PAX7 OTDMQRPO Strong Altered Expression [6]
SS18 OTDKHN1E Strong Genetic Variation [11]
SSX1 OTZ7NRCY Strong Genetic Variation [3]
SSX2 OT2Z6RLL Strong Genetic Variation [11]
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⏷ Show the Full List of 12 DOT(s)

References

1 A standard database for drug repositioning. Sci Data. 2017 Mar 14;4:170029.
2 Adenosine transporter ENT4 is a direct target of EWS/WT1 translocation product and is highly expressed in desmoplastic small round cell tumor.PLoS One. 2008 Jun 4;3(6):e2353. doi: 10.1371/journal.pone.0002353.
3 Immunohistochemical and molecular genetic approaches to soft tissue tumor diagnosis: a primer.Semin Oncol. 1997 Oct;24(5):515-25.
4 A tetraspanin-family protein, T-cell acute lymphoblastic leukemia-associated antigen 1, is induced by the Ewing's sarcoma-Wilms' tumor 1 fusion pro... Am J Pathol. 2003 Dec;163(6):2165-72.
5 Review with novel markers facilitates precise categorization of 41 cases of diagnostically challenging, "undifferentiated small round cell tumors". A clinicopathologic, immunophenotypic and molecular analysis.Ann Diagn Pathol. 2018 Jun;34:1-12. doi: 10.1016/j.anndiagpath.2017.11.011. Epub 2017 Nov 29.
6 PAX7 immunohistochemical evaluation of Ewing sarcoma and other small round cell tumours.Histopathology. 2018 Oct;73(4):645-652. doi: 10.1111/his.13689. Epub 2018 Aug 2.
7 Desmoplastic small round cell tumor of the parotid gland-report of a rare case and a review of the literature.Diagn Pathol. 2019 May 18;14(1):43. doi: 10.1186/s13000-019-0825-1.
8 Generation of conditional oncogenic chromosomal translocations using CRISPR-Cas9 genomic editing and homology-directed repair.J Pathol. 2017 May;242(1):102-112. doi: 10.1002/path.4883. Epub 2017 Mar 30.
9 A t (11; 22) (p13; q12) EWS-WT 1 positive desmoplastic small round cell tumor of the maxilla: an unusual case indicating the role of molecular diagnosis in round cell sarcomas.J Postgrad Med. 2010 Jul-Sep;56(3):201-5. doi: 10.4103/0022-3859.68628.
10 Spindle and Round Cell Sarcoma With EWSR1-PATZ1 Gene Fusion: A Sarcoma With Polyphenotypic Differentiation.Am J Surg Pathol. 2019 Feb;43(2):220-228. doi: 10.1097/PAS.0000000000001183.
11 Defining Ewing and Ewing-like small round cell tumors (SRCT): The need for molecular techniques in their categorization and differential diagnosis. A study of 200 cases.Ann Diagn Pathol. 2016 Jun;22:25-32. doi: 10.1016/j.anndiagpath.2016.03.002. Epub 2016 Mar 14.