Desmoplastic small-round-cell tumor

Desmoplastic small-round-cell tumor
Other names	DSRCT[1]
Micrograph of a desmoplastic small round cell tumor, showing the characteristic desmoplastic stroma and angulated nests of small round cells. H&E stain.
Specialty	Oncology
Prognosis	Five-year survival rate 15%[2]
Frequency	~200 cases reported[2][3]

Desmoplastic small-round-cell tumor (DSRCT) is an aggressive and rare

. It is characterized by the EWS-WT1 fusion protein.

The

Signs and symptoms

There are few early warning signs that a patient has a DSRCT. Patients are often young and healthy as the tumors grow and spread uninhibited within the abdominal cavity. These are rare tumors and symptoms are often misdiagnosed by physicians. The abdominal masses can grow to enormous size before being noticed by the patient. The tumors can be felt as hard, round masses by palpating the abdomen.^{[citation needed]}

First symptoms of the disease often include abdominal distention, abdominal mass, abdominal or back pain, gastrointestinal obstruction, lack of appetite, ascites, anemia, and cachexia.^{[citation needed]}

Other reported symptoms include unknown lumps, thyroid conditions, hormonal conditions, blood clotting, kidney and urological problems, testicle, breast, uterine, vaginal, and ovarian masses.^{[citation needed]}

Genetics

There are no known risk factors that have been identified specific to the disease. The tumor appears to arise from the primitive cells of childhood, and is considered a childhood cancer.^{[citation needed]}

Research has indicated that there is a chimeric relationship between DSRCT and Wilms' tumor and Ewing sarcoma. Together with neuroblastoma and non-Hodgkin's lymphoma, they form the small-cell tumors.^{[citation needed]}

DSRCT is associated with a unique

The EWS/WT1 translocation product targets

ENT4 is also known as PMAT.

Pathology

The entity was first described by pathologists William L. Gerald and

]

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.^[citation needed]

Diagnosis

Differential diagnosis

Because this is a rare tumor, not many family physicians or oncologists are familiar with this disease. DSRCT in young patients can be mistaken for other abdominal tumors including rhabdomyosarcoma, neuroblastoma, and mesenteric carcinoid. In older patients DSRCT can resemble lymphoma, peritoneal mesothelioma, and peritoneal carcinomatosis. In males DSRCT may be mistaken for germ cell or testicular cancer while in females DSRCT can be mistaken for ovarian cancer. DSRCT shares characteristics with other small-round blue cell cancers including Ewing's sarcoma, acute leukemia, small cell mesothelioma, neuroblastoma, primitive neuroectodermal tumor, rhabdomyosarcoma, and Wilms' tumor.^{[citation needed]}

Treatment

DSRCT is frequently

]

There is no standard protocol for the disease;

.

Prognosis

The prognosis for DSRCT remains poor.[14] Prognosis depends upon the stage of the cancer. Because the disease can be misdiagnosed or remain undetected, tumors frequently grow large within the abdomen and metastasize or seed to other parts of the body.

There is no known organ or area of origin. DSRCT can metastasize through lymph nodes or the blood stream. Sites of metastasis include the spleen, diaphragm, liver, large and small intestine, lungs, central nervous system, bones, uterus, bladder, genitals, abdominal cavity, and the brain.

A multi-modality approach of high-dose chemotherapy, aggressive surgical resection,^[15] radiation, and stem cell rescue improves survival for some patients. Reports have indicated that patients will initially respond to first line chemotherapy and treatment but that relapse is common.

Some patients in remission or with inoperable tumor seem to benefit from long term low dose chemotherapy, turning DSRCT into a chronic disease.

Research

The examples and perspective in this section may not represent a worldwide view of the subject. You may improve this section, discuss the issue on the talk page, or create a new section, as appropriate. (July 2016) (Learn how and when to remove this template message)

The Stehlin Foundation^[16] currently offers DSRCT patients the opportunity to send samples of their tumors free of charge for testing. Research scientists are growing the samples on nude mice and testing various chemical agents to find which are most effective against the individual's tumor.

Patients with advanced DSRCT may qualify to participate in

that are researching new drugs to treat the disease.

The Cory Monzingo Foundation is a 501(c)(3) organization that supports the research for treatments and a cure for DSRCT. The Cory Monzingo Foundation provides funding to MD Anderson Cancer Center and may also provide funding to other nonprofit cancer research organizations.

In 2002, Nishio and al,^[17] established a novel human tumor cell line derived from the pleural effusion of a patient with a typical intra-abdominal DSRCT, called JN-DSRCT-1^[18] that can now be used in research.

St. Jude Children’s Research Hospital has, in 2018, make available resources from the Childhood Solid Tumor Network, that upon request gives access to patient-derived orthotopic xenografts.^[19]

Alternative names

This disease is also known as:

small round blue cell tumor; intra-abdominal desmoplastic small round blue cell tumor; desmoplastic small cell tumor; desmoplastic cancer; desmoplastic sarcoma; DSRCT.

There is no connection to peritoneal mesothelioma which is another disease sometimes described as desmoplastic.

See also

• Desmoplasia
• Kate Granger (1981–2016), an English physician, whose diagnosis with DSRCT led to her campaigning for better patient care, and fund-raising for cancer research.

References

External links

Retrieved from "https://en.wikipedia.org/w/index.php?title=Desmoplastic_small-round-cell_tumor&oldid=1200133880"