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)(p13;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 in ICD-11 classification [BR:br08403]
02 Neoplasms
Malignant neoplasms, except primary neoplasms 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
