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, WT1, SDHB, CRLF2, and ARID1A [2].

Most Commonly Altered Genes in Desmoplastic Small Round Cell Tumor

CRLF2 Loss, SMARCA4 Mutation, SDHB Mutation (germline), SDHB Mutation, and SDHB A21T are the most common alterations in desmoplastic small round cell tumor [2].

Top Alterations 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
Desmoplastic small round cell tumor, Polyphenotypic Small Round Cell Tumor, Desmoplas. small round cell tumor, esmoplastic small round cell tumor, Desmoplastic Small Round-Cell Tumor, DSRCT, Desmoplastic Small Round-Cell Neoplasm, 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 4. 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.