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Disease Profile
Gastrointestinal Stromal Tumors
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.
1-5 / 10 000
Age of onset
Childhood
ICD-10
C26.9
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)
Gastrointestinal Stromal Sarcoma; GIST
Categories
Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers
Summary
Gastrointestinal stromal
GIST may only affect one member of a family (not
Treatment may include surgery to remove the tumors, and/or medication with tyrosine kinase inhibitors (TKI) depending on the extent of disease and tumor sensitivity to TKI.[2][4] In very rare cases GIST may be part of a genetic
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 | ||
Gastrointestinal stroma tumor | 0100723 | |
Neoplasm of the stomach |
Stomach tumor
|
0006753 |
Sarcoma |
Cancer of connective tissue
Malignant connective tissue tumor
[ more ] |
0100242 |
30%-79% of people have these symptoms | ||
Constipation | 0002019 | |
Poor swallowing
Swallowing difficulties
Swallowing difficulty
[ more ] |
0002015 | |
Fatigue |
Tired
Tiredness
[ more ] |
0012378 |
Gastrointestinal hemorrhage |
Gastrointestinal bleeding
|
0002239 |
Intestinal obstruction |
Bowel obstruction
Intestinal blockage
[ more ] |
0005214 |
Nausea and vomiting | 0002017 | |
5%-29% of people have these symptoms | ||
Abnormality of the liver |
Abnormal liver
Liver abnormality
[ more ] |
0001392 |
Low number of red blood cells or hemoglobin
|
0001903 | |
Esophageal neoplasm |
Esophageal tumor
|
0100751 |
Irregular hyperpigmentation | 0007400 | |
Neoplasm of the colon |
Colon tumor
|
0100273 |
Neoplasm of the rectum |
Rectal tumor
|
0100743 |
Neoplasm of the small intestine |
Small intestine tumor
|
0100833 |
Skin rash | 0000988 | |
Percent of people who have these symptoms is not available through HPO | ||
0000006 | ||
Hyperpigmentation of the skin |
Patchy darkened skin
|
0000953 |
Large hands |
large hand
|
0001176 |
Neurofibromas | 0001067 | |
Sporadic |
No previous family history
|
0003745 |
Urticaria |
Hives
|
0001025 |
Diagnosis
Making a diagnosis for a genetic or rare disease can often be challenging. Healthcare professionals typically look at a person’s medical history, symptoms, physical exam, and laboratory test results in order to make a diagnosis. The following resources provide information relating to diagnosis and testing for this condition. If you have questions about getting a diagnosis, you should contact a healthcare professional.
Testing Resources
- The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Treatment
The TKI imatinib mesylate (imatinib) may be used as the first treatment option for tumors which cannot be removed completely by surgery (unresectable), cancerous GIST that has spread (metastatic), or recurrent GIST. TKI sunitinib malate (sunitinab) is generally given to people if treatment with imatinib has not been successful. KIT and PDGFRA
FDA-Approved Treatments
The medication(s) listed below have been approved by the Food and Drug Administration (FDA) as orphan products for treatment of this condition. Learn more orphan products.
- Imatinib mesylate(Brand name: Gleevec®) Manufactured by Novartis Pharmaceuticals Corp.
FDA-approved indication: Treatment of patients with Kit (CD117) positive unresectable and/or metastatic malignant gastrointestinal stromal tumors (GIST)
National Library of Medicine Drug Information Portal - Regorafenib(Brand name: Stivarga) Manufactured by Bayer HealthCare Pharmaceuticals, Inc.
FDA-approved indication: Treatment of patients with locally advanced, unresectable or metastatic gastrointestinal stromal tumor (GIST) who have been previously treated with imatinib mesylate and sunitinib malate.
National Library of Medicine Drug Information Portal
Medline Plus Health Information - Pazopanib(Brand name: Votrient) Manufactured by GlaxoSmithKline
FDA-approved indication: Advanced softtissue sarcoma (STS) who have received priorchemotherapy .
National Library of Medicine Drug Information Portal
Medline Plus Health 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
-
GIST Cancer Research Fund (GCRF)
3905 N.E. 167th Street
North Miami Beach, FL 33160
Telephone: 305-944-4590
E-mail: [email protected]
Website: https://www.gistinfo.org/ -
The Life Raft Group
40 Galesi Drive, Ste. 19
Wayne, NJ 07470
Telephone: 973-837-9092
Fax: 973-837-9095
Website: https://www.liferaftgroup.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 American Cancer Society (ACS) has developed a detailed guide on GIST. To access this guide, visit the ACS link.
- The Life Raft Group provides medical information and builds an international support network for those with pediatric and wild-type gastrointestinal stromal tumors and funds research to find a cure for this cancer.
- The Global GIST Network is a directory of resources available to people with Gastrointestinal Stromal Tumors and their families. This directory serves to help people throughout the world find local resources and support.
- Genetics Home Reference (GHR) contains information on Gastrointestinal Stromal Tumors. This website is maintained by the National Library of Medicine.
- The National Organization for Rare Disorders (NORD) has a report for patients and families about this condition. NORD is a patient advocacy organization for individuals with rare diseases and the organizations that serve them.
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.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- 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 Gastrointestinal Stromal Tumors. Click on the link to view a sample search on this topic.
Other Links
- The The Life Raft Group Newsroom Web page provides up-to-date information about the latest news related to GIST. Click on the link above to view this resource.
References
- General Information About Adult Soft Tissue Sarcoma. National Cancer Institute. https://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient/page1.
- Gastrointestinal Stromal Tumors Treatment (PDQ®)–Health Professional Version. National Cancer Institute. May 10, 2017; https://www.cancer.gov/types/soft-tissue-sarcoma/hp/gist-treatment-pdq/#section/_35.
- Gastrointestinal stromal tumor. Genetics Home Reference. 2017; https://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor#inheritance.
- ESMO/European Sarcoma Network Working Group, et al. Gastrointestinal stromal tumours: ESMO Clinical Practice Guidelines for diagnosis, treatment and follow-up. Ann Oncol. September 2014; 25 (Suppl 3):iii21-6. https://www.ncbi.nlm.nih.gov/pubmed/25210085.
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