Diseases /
Desmoplastic Small Round Cell Tumor
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Associated Genetic Biomarkers
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, KMT2C, HRAS, and ARID1A [2].
EWSR1 Fusion, WT1 Fusion, EWSR1-WT1 Fusion, WT1-EWSR1 Fusion, and CRLF2 Loss are the most common alterations in desmoplastic small round cell tumor [2].
Clinical Trials
Significant Genes in Desmoplastic Small Round Cell Tumor
Disease Details
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 8. 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.