Desmoplastic small round cell tumor (DSRCT)
Desmoplastic small round cell tumor (DSRCT) is a rare and aggressive type of soft tissue sarcoma that primarily affects adolescents and young adults, with a higher incidence in males. Typically found in the abdomen and pelvis, DSRCT can also spread to surrounding lymph nodes and distant organs, including the lungs and brain. The exact cause of DSRCT is unknown, but it is associated with a chromosomal mutation involving the EWS-WT1 gene, which plays a role in tumor formation. Common symptoms include abdominal pain, gastrointestinal issues, and weight loss, often leading to misdiagnosis, particularly in females where it may be mistaken for ovarian cancer. Diagnosis typically involves imaging techniques followed by a biopsy to confirm the presence of the tumor and genetic markers. Due to its aggressive nature, treatment options are limited; surgery is seldom feasible, and high doses of chemotherapy and radiation therapy are commonly employed. Unfortunately, the prognosis for DSRCT is poor, with a five-year survival rate ranging from 15 to 38 percent, although early detection can improve outcomes. Ongoing research aims to better understand the disease and improve treatment strategies.
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Desmoplastic small round cell tumor (DSRCT)
ALSO KNOWN AS: Desmoplastic sarcoma, desmoplastic cancer
RELATED CONDITIONS: Solid tumor, testicular cancer, ovarian cancer
DEFINITION: A desmoplastic small round cell tumor (DSRCT) is a rare but highly aggressive soft tissue sarcoma causing tumor, usually appearing in the abdomen, pelvis, and surrounding lymph nodes.
Risk factors: There are no known specific risk factors for DSRCT. The condition occurs when chromosome changes create an abnormal gene called EWS-WT1, but the cause of the change is unknown.
Etiology and the disease process: DSCRTs appear to arise from early developmental cells in childhood. The cell of origin for this tumor is unknown. The tumor shows characteristics of epithelial, mesenchymal, and neural differentiation. The tumor can metastasize through lymph nodes or the bloodstream, primarily into areas of the abdomen, including the spleen, diaphragm, liver, and intestines. Other sites of metastasis include the lungs, central nervous system, bones, uterus, bladder, genitals, abdominal cavity, and brain.
Incidence: DSCRT is extremely rare, usually occurring in adolescent or young adult males between the ages of twenty and thirty. Only approximately 10 to 20 percent of cases occur in females. DSCRT affects around one out of every one billion people.
Symptoms: The most common symptoms include abdominal pain, abdominal mass, constipation, diarrhea, nausea, weight loss, and gastrointestinal obstruction. Most symptoms only occur after the tumors are large.
Screening and diagnosis: Patients are often misdiagnosed at the onset of symptoms, and the rapid growth of the tumor cells can lead to an advanced stage, in which the cancer has spread to lymph nodes and other organs before being diagnosed. DSCRT in females is frequently mistaken for ovarian cancer. A computed tomography scan, magnetic resonance imaging, positron emission tomography, or ultrasounds can reveal the presence of tumors. Confirmation of DSCRT is usually done by biopsy. Identification of a chromosomal mutation involving the translocation of the WT1 gene on chromosome 11 and the EWSR1 gene on chromosome 22 has been useful in confirming the diagnosis of the tumor. This is done using genetic tests.
Treatment and therapy: Because the tumors involve a large portion of the abdomen, surgery is rarely an option. High doses of chemotherapy and radiation therapy may be used, such as hyperthermic intraperitoneal chemotherapy.
Prognosis, prevention, and outcomes: The prognosis of patients diagnosed with desmoplastic round cell tumors is very poor, with a five-year survival rate of 15 to 38 percent. Patients treated before the tumors spread have a much higher survival rate. Scientists continue to study the pathogenesis of this tumor and various chemical agents to find which are most effective against the cancer.
Bibliography
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