Desmoplastic small round cell tumor
Desmoplastic small round cell tumor is classified as a soft tissue sarcoma. It is an aggressive and rare tumor that primarily occurs as multiple masses in the abdomen. Other areas affected include the lymph nodes, the lining of the abdomen, diaphragm , and the pelvis. The most common site of metatastic spred is to the liver, lungs, and bones. more...
The tumor predominately strikes teenagers and young adults. It usually affects males, more than females.
There is no known risk factors that have been identified specific to the disease. Research has indicated that there is a relationship between desmoplastic small round cell tumor and the Ewings Family of Tumors.
DSRCT is associated with a unique chromosomal translocation (t11;22)(p13:q12) resulting in a chimeric EWS/WTI transcript that is diagnostic of this tumor. This transcript codes for a protein that acts as a transcriptional activator that fails to suppress tumor growth.
Symtoms of disease include abdominal pain, abdominal mass, gastrointestinal obstruction, ascites, possible anemia, and cachexia.
Pathology reveals well circumscribed solid tumor nodules within a dense desmoplastic stroma. Often areas of central necrosis are present. Tumor cells have hyperchromatic nuclei with increased nuclear/cytoplasmic ratio.
On immunohistochemistry, these cells have trilinear coexpression including the epithelial marker cytokeratin, the mesenchymal markers desmin and vimentin, and the neuronal marker neuron-specific enolase. Thus, although initially thought to be of mesothelial origin due to sites of presentation, it is now hypothesized to arise from a progenitor cell with multiphenotypic differentiation.
At this time, the prognosis for desmoplastic small round cell tumor is poor, less than 20%. Usually, by the time the disease is diagnosed the tumor has already grown large within the abdomen and metastasized or seeded to other parts of the body.
Although the tumors are described as chemo-resistant, there is treatment for the disease. Recent journals have reported that some patients respond to high dose chemotherapy, debulking operation , and radiation therapy. Other treatment options considered include: Autologous Stem cell Transplant, Intensity-Modulated Radiation Therapy, Stereotactic Body radiation therapy, and Intraperitoneal hyperthermic chemoperfusion.
This disease is also known as: Desmoplastic small round blue cell tumor; Intraabdominal desmoplastic small round blue cell tumor; Desmoplastic small cell tumor; Desmoplastic sarcoma; DSRCT.
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