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Disease Profile

Desmoplastic small round cell tumor

Prevalence
Prevalence estimates on Rare Medical Network websites are calculated based on data available from numerous sources, including US and European government statistics, the NIH, Orphanet, and published epidemiologic studies. Rare disease population data is recognized to be highly variable, and based on a wide variety of source data and methodologies, so the prevalence data on this site should be assumed to be estimated and cannot be considered to be absolutely correct.

Unknown

Age of onset

Adolescent

ICD-10

C48.2

Inheritance

Autosomal dominant A pathogenic variant in only one gene copy in each cell is sufficient to cause an autosomal dominant disease

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Autosomal recessive Pathogenic variants in both copies of each gene of the chromosome are needed to cause an autosomal recessive disease and observe the mutant phenotype

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X-linked
dominant X-linked dominant inheritance, sometimes referred to as X-linked dominance, is a mode of genetic inheritance by which a dominant gene is carried on the X chromosome.

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X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder

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Mitochondrial or multigenic Mitochondrial genetic disorders can be caused by changes (mutations) in either the mitochondrial DNA or nuclear DNA that lead to dysfunction of the mitochondria and inadequate production of energy.

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Multigenic or multifactor Inheritance involving many factors, of which at least one is genetic but none is of overwhelming importance, as in the causation of a disease by multiple genetic and environmental factors.

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Not applicable

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Other names (AKA)

Desmoplastic small round-cell tumor; DSRCT

Categories

Digestive Diseases; Rare Cancers

Summary

Desmoplastic small round cell tumor (DSRCT) is a rare type of soft tissue cancer (sarcoma) that usually begins in the abdomen. It primarily affects children and young adults and is more common in males. It is formed by small, round cancer cells surrounded by scar-like tissue and is often found in the tissue (peritoneum) that lines the inside of the abdomen and pelvis. The tumor cells have a characteristic genetic change involving a translocation between chromosomes 11 and 22, which is important in differentiating from other similar tumors. The genetic change involved in DSRCT is acquired throughout a person's lifetime and is not inherited.[1][2][3]

Symptoms may include abdominal pain and a feeling of fullness, abdominal mass, and symptoms of gastrointestinal obstruction, such as constipation. Treatment options may include: chemotherapy, radiation therapy, surgery, and stem cell transplantation.[1][2]

Symptoms

This table lists symptoms that people with this disease may have. For most diseases, symptoms will vary from person to person. People with the same disease may not have all the symptoms listed. This information comes from a database called the Human Phenotype Ontology (HPO) . The HPO collects information on symptoms that have been described in medical resources. The HPO is updated regularly. Use the HPO ID to access more in-depth information about a symptom.

Medical Terms Other Names
Learn More:
HPO ID
80%-99% of people have these symptoms
Abdominal distention
Abdominal bloating
Abdominal swelling
Belly bloating
Bloating

[ more ]

0003270
Abdominal pain
Pain in stomach
Stomach pain

[ more ]

0002027
Abnormality of the peritoneum
0002585
Sarcoma
Cancer of connective tissue
Malignant connective tissue tumor

[ more ]

0100242
30%-79% of people have these symptoms
Hepatomegaly
Enlarged liver
0002240
Ileus
0002595
Mediastinal lymphadenopathy
Swollen lymph nodes in center of chest
0100721
Nausea and vomiting
0002017
5%-29% of people have these symptoms
Anemia
Low number of red blood cells or hemoglobin
0001903
Ascites
Accumulation of fluid in the abdomen
0001541
Cachexia
Wasting syndrome
0004326
Neoplasm of the central nervous system
Tumors of the central nervous system
0100006
Neoplasm of the lung
Lung tumor
0100526
Neoplasm of the pancreas
Cancer of the pancreas
Pancreatic tumor

[ more ]

0002894
Ovarian neoplasm
Ovarian tumor
0100615
Testicular neoplasm
Testicular tumor
0010788

Organizations

Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services. Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Many organizations also have experts who serve as medical advisors or provide lists of doctors/clinics. Visit the group’s website or contact them to learn about the services they offer. Inclusion on this list is not an endorsement by GARD.

Organizations Supporting this Disease

    Organizations Providing General Support

      Learn more

      These resources provide more information about this condition or associated symptoms. The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional.

      Where to Start

        In-Depth Information

        • The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
        • Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
        • PubMed is a searchable database of medical literature and lists journal articles that discuss Desmoplastic small round cell tumor. Click on the link to view a sample search on this topic.

          References

          1. Fernanda Arnaldez, David Loeb,. Print it Desmoplastic Small Round Cell Tumor (DSRCT). The Liddy Shriver Sarcoma Initiative. 2/2010; https://sarcomahelp.org/dsrct.html#tpm1_1. Accessed 9/9/2016.
          2. Hayes-Jordan, Andrea; Anderson, Peter M. The diagnosis and management of desmoplastic small round cell tumor: a review. Current Opinion in Oncology. July 2011; 23(4):385-389. https://www.ncbi.nlm.nih.gov/pubmed/21577112.
          3. Christopher W Ryan, Janelle Meyer. Clinical presentation, histopathology, diagnostic evaluation, and staging of soft tissue sarcoma. UpToDate. August 11, 2016; https://www.uptodate.com/contents/clinical-presentation-histopathology-diagnostic-evaluation-and-staging-of-soft-tissue-sarcoma.