Gastrointestinal Stromal Tumors

Información en español Title

Other Names:

Gastrointestinal Stromal Sarcoma; GIST

Categories:

Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers

Summary Summary

Gastrointestinal stromal tumors (GIST) are a type of soft tissue tumor that usually begin in specialized nerve cells in the wall of the stomach, intestines, or rectum, known as interstitial cells of Cajal. GIST may be noncancerous (benign) or cancerous (malignant). If cancerous, the tumor may also be called a soft tissue sarcoma. Symptoms depend on the location, size, and aggressiveness of the tumors, but may include vomiting of blood, bloody or tarry bowel movements, or anemia caused by chronic bleeding. Other symptoms may include painful and swollen abdomen, appendicitis-like pain, or complications due to gastrointestinal obstruction or tumor rupture.^[1]^[2]

GIST may only affect one member of a family (not inherited) or several family members (familial or inherited). The risk of GIST is increased in people who have a certain variations (mutations) in the KIT gene, PDGFRA genes, and possibly a few other genes. Disease-causing variations in these same genes are also involved in the non-inherited form of GIST, but the genetic variation occurs accidentally during a person's life time (acquired) rather than being passed down from one or both parents. Familial GIST, which usually involves more than one tumor, may follow an autosomal dominant or autosomal recessive inheritance pattern depending on the genetic variation.^[2]^[3]

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 syndrome, such as Neurofibromatosis type 1 (NF1) and Carney triad. The prognosis depends on the severity, size, location of the tumor and whether the tumor is cancerous, can be removed by surgery, or if it has spread to other parts of the body (metastasized).^[1]^[2]

Last updated: 12/29/2017

Symptoms 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.

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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
Dysphagia	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
Anemia	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
Autosomal dominant inheritance		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

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Do you have more information about symptoms of this disease? We want to hear from you.

Last updated: 3/1/2020

Do you have updated information on this disease? We want to hear from you.

Diagnosis 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 Treatment

For patients with primary, localized gastrointestinal stromal tumors (GIST), surgery with complete excision is often the first line of treatment. However, surgery may not be as successful in the treatment of recurrent and metastatic GIST.^[2]^[4]

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 genetic testing may help predicting tumor responses to kinase inhibitors.^[2]^[4]

Last updated: 12/30/2017

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 soft tissue sarcoma (STS) who have received prior chemotherapy.
National Library of Medicine Drug Information Portal
Medline Plus Health Information

Find a Specialist Find a Specialist

If you need medical advice, you can look for doctors or other healthcare professionals who have experience with this disease. You may find these specialists through advocacy organizations, clinical trials, or articles published in medical journals. You may also want to contact a university or tertiary medical center in your area, because these centers tend to see more complex cases and have the latest technology and treatments.

If you can’t find a specialist in your local area, try contacting national or international specialists. They may be able to refer you to someone they know through conferences or research efforts. Some specialists may be willing to consult with you or your local doctors over the phone or by email if you can't travel to them for care.

You can find more tips in our guide, How to Find a Disease Specialist. We also encourage you to explore the rest of this page to find resources that can help you find specialists.

Healthcare Resources

To find a medical professional who specializes in genetics, you can ask your doctor for a referral or you can search for one yourself. Online directories are provided by the American College of Medical Genetics and the National Society of Genetic Counselors. If you need additional help, contact a GARD Information Specialist. You can also learn more about genetic consultations from Genetics Home Reference.
The The Life Raft Group has a tool for finding local gastrointestinal stromal tumor specialists. Click on the link above to search for specialists near you.

Research Research

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved.

Clinical Research Resources

ClinicalTrials.gov lists trials that are related to Gastrointestinal Stromal Tumors. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.

Please note: Studies listed on the ClinicalTrials.gov website are listed for informational purposes only; being listed does not reflect an endorsement by GARD or the NIH. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.

Patient Registry

A registry supports research by collecting of information about patients that share something in common, such as being diagnosed with Gastrointestinal Stromal Tumors. The type of data collected can vary from registry to registry and is based on the goals and purpose of that registry. Some registries collect contact information while others collect more detailed medical information. Learn more about registries.

Registries for Gastrointestinal Stromal Tumors:
The LRG GIST Patient Registry

Organizations 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: GistCancerFund@aol.com
Website: http://www.gistinfo.org/
The Life Raft Group
40 Galesi Drive, Ste. 19
Wayne, NJ 07470
Telephone: 973-837-9092
Fax: 973-837-9095
Website: http://www.liferaftgroup.org

Do you know of an organization? We want to hear from you.

Living With Living With

Living with a genetic or rare disease can impact the daily lives of patients and families. These resources can help families navigate various aspects of living with a rare disease.

Financial Resources

The Social Security Administration has included this condition in their Compassionate Allowances Initiative. This initiative speeds up the processing of disability claims for applicants with certain medical conditions that cause severe disability. More information about Compassionate Allowances and applying for Social Security disability is available online.

Learn More 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.
Genetics Home Reference (GHR) contains information on Gastrointestinal Stromal Tumors. This website is maintained by the National Library of Medicine.
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.
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.

GARD Answers GARD Answers

Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy. If you do not want your question posted, please let us know.

Have a question? Contact a GARD Information Specialist.

References References

General Information About Adult Soft Tissue Sarcoma. National Cancer Institute. http://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.