Overview

NCI Definition: An aggressive malignant soft tissue neoplasm of uncertain differentiation. It is characterized by a recurrent chromosomal translocation t(11;22)(p13;q12) and the presence of small round cells in a desmoplastic stroma. It usually affects children and young adults. The most common site of involvement is the abdomen. Patients usually present with abdominal distention, pain, ascites, and a palpable abdominal mass. The prognosis is usually poor. [1]

Desmoplastic small round cell tumors most frequently harbor alterations in EWSR1 and WT1 [2].

Most Commonly Altered Genes in Desmoplastic Small Round Cell Tumor

Significant Genes in Desmoplastic Small Round Cell Tumor

ABL1 +

AFF1 +

BCR +

DEK +

ELL +

FLT3 +

KMT2A +

MECOM +

MLLT1 +

MLLT10 +

MLLT3 +

MLLT4 +

MYCN +

NUP214 +

RPN1 +

TP53 +

Disease Details

Synonyms
esmoplastic small round cell tumor, Desmoplastic small round cell tumor, Desmoplastic Small Round-Cell Tumor, Desmoplas. small round cell tumor, Polyphenotypic Small Round Cell Tumor, Desmoplastic Small Round-Cell Neoplasm, DSRCT, Desmoplastic Small-Round-Cell Tumor
Parent(s)
Small Cell Sarcoma
OncoTree Name
Desmoplastic Small-Round-Cell Tumor
OncoTree Code
DSRCT

References

1. National Cancer Institute. NCI Thesaurus Version 18.11d. https://ncit.nci.nih.gov/ncitbrowser/ [2018-08-28]. [2018-09-21].

2. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

3. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.