Desmoplastic Small Round Cell Tumor
Also known as: DSRCT, Desmoplastic Small Round Cell Sarcoma
Desmoplastic Small Round Cell Tumor (DSRCT) is a rare and aggressive type of cancer that primarily occurs in adolescents and young adults. It is characterized by the presence of small, round, blue cells surrounded by a desmoplastic stroma (dense fibrous tissue). DSRCT most commonly arises in the abdomen but can also occur in other locations such as the pelvis, chest, and extremities. The tumor is driven by a specific chromosomal translocation that results in the fusion of the EWSR1 gene and the WT1 gene.
Imagine tiny bad cells growing in your tummy or other parts of your body. These cells are called Desmoplastic Small Round Cell Tumor, or DSRCT. It's a rare type of cancer that's hard to treat, but doctors use surgery, medicine, and special rays to try and make you better.
Signs & Symptoms
- Abdominal pain and swelling
- Palpable abdominal mass
- Bowel obstruction
- Weight loss
- Fatigue
- Nausea and vomiting
- Constipation
- Back pain (if tumor involves the spine)
- Urinary symptoms (if tumor involves the bladder or ureters)
Treatment Options
Surgery
MODERATELY EFFECTIVEChemotherapy (multi-agent regimens such as P6 protocol)
MODERATELY EFFECTIVERadiation therapy
MODERATELY EFFECTIVEHigh-dose chemotherapy with stem cell transplant
MODERATELY EFFECTIVEHyperthermic intraperitoneal chemotherapy (HIPEC)
MODERATELY EFFECTIVETargeted therapies (e.g., tyrosine kinase inhibitors, angiogenesis inhibitors) - Investigational
EXPERIMENTALDiagnosis
- Physical examination
- Imaging studies (CT scan, MRI, PET scan)
- Biopsy (surgical or image-guided)
- Histopathological examination
- Immunohistochemistry (positive for WT1, desmin, cytokeratin)
- Molecular genetic testing (detection of EWSR1-WT1 fusion transcript)
History
DSRCT was first described as a distinct entity in 1989 by Gerald et al. The characteristic EWSR1-WT1 translocation was identified in the early 1990s, solidifying its classification as a unique sarcoma subtype.
Recent Breakthroughs
Novel targeted therapies show promise in preclinical models of DSRCT
Research has identified potential therapeutic targets in DSRCT, including tyrosine kinases and angiogenesis pathways. Preclinical studies have demonstrated the efficacy of targeted therapies in inhibiting tumor growth and metastasis.
Improved outcomes with intensified chemotherapy regimens and HIPEC in select DSRCT patients
A retrospective study suggested that intensified chemotherapy regimens, combined with HIPEC, may improve survival outcomes in a subset of DSRCT patients with limited disease burden.