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Disease Profile
Desmoplastic small round cell tumor
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.
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.
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.
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.
X-linked
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
recessive Pathogenic variants in both copies of a gene on the X chromosome cause an X-linked recessive disorder.
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.
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.
Not applicable
Other names (AKA)
Desmoplastic small round-cell tumor; DSRCT
Categories
Digestive Diseases; Rare Cancers
Summary
Desmoplastic small round
Symptoms may include abdominal pain and a feeling of fullness, abdominal mass, and symptoms of gastrointestinal obstruction, such as constipation. Treatment options may include:
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 | |
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 | ||
Low number of red blood cells or hemoglobin
|
0001903 | |
Ascites |
Accumulation of fluid in the abdomen
|
0001541 |
Cachexia |
Wasting syndrome
|
0004326 |
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 |
Related diseases
Related diseases are conditions that have similar signs and symptoms. A health care provider may consider these conditions in the table below when making a diagnosis. Please note that the table may not include all the possible conditions related to this disease.
Conditions with similar signs and symptoms from Orphanet
|
---|
Differential diagnoses include all the small round cells tumors: Ewing sarcoma and other peripheral neuroectodermal tumors (PNET), Wilms tumor, rhabdomyosarcoma and undifferentiated carcinoma (see these terms).
Visit the Orphanet disease page for more information.
|
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
-
Sarcoma Alliance
775 E. Blithedale #334
Mill Valley, CA 94941
Toll-free: +1-415-381-7235
Telephone: +1-415-381-7236
E-mail: [email protected]
Website: https://sarcomaalliance.org/ -
Sarcoma Alliance for Research through Collaboration (SARC)
24 Frank Lloyd Wright Drive
Lobby A, Suite 3100
Ann Arbor, MI 48105
Telephone: +1-734-930-7600
Fax: +1-734-930-7557
E-mail: [email protected]
Website: https://sarctrials.org -
Sarcoma Foundation of America
PO Box 98160
Washington, DC 20090-8160
Telephone: +1-301-253-8687
Fax: +1-301-253-8690
E-mail: [email protected]
Website: https://www.curesarcoma.org/ -
Sarcoma UK
49-51 East Road
London, N1 6AH United Kingdom
Toll-free: 0808 801 0401
Telephone: 020 7250 8271
E-mail: [email protected]
Website: https://sarcoma.org.uk/ -
The Liddy Shriver Sarcoma Initiative
17 Bethea Drive
Ossining, NY 10562-1620
Telephone: 914-762-3251
Website: https://sarcomahelp.org/
Organizations Providing General Support
-
American Cancer Society
250 Williams Street NW
Atlanta, GA 30329
Toll-free: 1-800-227-2345
Website: https://www.cancer.org
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
- The Liddy Shriver Sarcoma Initiative offers an information page on Desmoplastic small round cell tumor. Please click on the link to access this resource.
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
- 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.
- 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.
- 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.