KEGG   DISEASE: Desmoplastic small round cell tumorHelp
Entry
H01985                      Disease                                

Name
Desmoplastic small round cell tumor
Description
Desmoplastic small round cell tumor (DSRCT) is a rare tumor typically involving peritoneum. The concept of DSRCT as a distinct tumor has been strengthened by association with a specific chromosomal abnormality, t(11;22)(pl3;q12) that involves the EWSR1 and WT1 genes. EWSR1 encodes the EWS protein which is a member of the FET family of RNA-binding proteins, while WT1 encodes a zinc-finger transcription factor. Several transcriptional targets of the EWSR1-WT1 chimera have been identified such as Platelet Derived Growth Factor A (PDGFA), IL2 receptor-beta, Myeloid Leukemia Factor 1 (MLF1) or Insulin-like Growth Factor 1 receptor (IGF1-R). Somatic MET and PIK3CA mutations have also been identified.
Category
Cancer
Brite
Human diseases [BR:br08402]
 Cancers
  Cancers of soft tissues and bone
   H01985  Desmoplastic small round cell tumor
Human diseases in ICD-11 classification [BR:br08403]
 02 Neoplasms
  Malignant neoplasms, except of lymphoid, haematopoietic, central nervous system or related tissues
   Malignant neoplasms, stated or presumed to be primary, of specified sites, except of lymphoid, haematopoietic, central nervous system or related tissues
    Malignant mesenchymal neoplasms
     2B5K  Unspecified malignant soft tissue tumours or sarcomas of bone or articular cartilage of other or unspecified sites
      H01985  Desmoplastic small round cell tumor
BRITE hierarchy
Pathway
hsa05202  Transcriptional misregulation in cancer
Network
  Element
N00137  EWSR1-WT1 fusion to transcriptional activation
Gene
EWSR1-WT1 (translocation) [HSA:7490] [KO:K09234]
MET (mutation) [HSA:4233] [KO:K05099]
PIK3CA (mutation) [HSA:5290] [KO:K00922]
Other DBs
ICD-11: 2B5K
ICD-10: C49.9
MeSH: D058405
Reference
  Authors
Zhang PJ, Goldblum JR, Pawel BR, Fisher C, Pasha TL, Barr FG
  Title
Immunophenotype of desmoplastic small round cell tumors as detected in cases with EWS-WT1 gene fusion product.
  Journal
Mod Pathol 16:229-35 (2003)
DOI:10.1097/01.MP.0000056630.76035.F3
Reference
PMID:9738572
  Authors
Gerald WL, Ladanyi M, de Alava E, Cuatrecasas M, Kushner BH, LaQuaglia MP, Rosai J
  Title
Clinical, pathologic, and molecular spectrum of tumors associated with t(11;22)(p13;q12): desmoplastic small round-cell tumor and its variants.
  Journal
J Clin Oncol 16:3028-36 (1998)
DOI:10.1200/JCO.1998.16.9.3028
Reference
  Authors
Dufresne A, Cassier P, Couraud L, Marec-Berard P, Meeus P, Alberti L, Blay JY
  Title
Desmoplastic small round cell tumor: current management and recent findings.
  Journal
Sarcoma 2012:714986 (2012)
DOI:10.1155/2012/714986
Reference
  Authors
Negri T, Brich S, Bozzi F, Volpi CV, Gualeni AV, Stacchiotti S, De Cecco L, Canevari S, Gloghini A, Pilotti S
  Title
New transcriptional-based insights into the pathogenesis of desmoplastic small round cell tumors (DSRCTs).
  Journal
Oncotarget 8:32492-32504 (2017)
DOI:10.18632/oncotarget.16477
Reference
  Authors
Jiang Y, Subbiah V, Janku F, Ludwig JA, Naing A, Benjamin RS, Brown RE, Anderson P, Kurzrock R
  Title
Novel secondary somatic mutations in Ewing's sarcoma and desmoplastic small round cell tumors.
  Journal
PLoS One 9:e93676 (2014)
DOI:10.1371/journal.pone.0093676
Reference
  Authors
Papadakis MA and McPhee SJ |(ed)
  Title
Current Medical Diagnosis & Treatment 2015, Fifty-Fourth Edition
  Journal
McGraw Hill Education

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