Rare Ophthalmology News

Advertisement

Disease Profile

Gastrointestinal Stromal Tumors

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.

1-5 / 10 000

US Estimated

Europe Estimated

Age of onset

Childhood

ageofonset-childhood.svg

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.

rnn-autosomaldominant.svg

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.

no.svg

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.

no.svg

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

no.svg

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.

no.svg

Not applicable

notapplicable.svg

Other names (AKA)

Gastrointestinal Stromal Sarcoma; GIST

Categories

Congenital and Genetic Diseases; Digestive Diseases; Rare Cancers

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 bloodbloody 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 genePDGFRA 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]

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
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

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

    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]

    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.

    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

      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

            1. General Information About Adult Soft Tissue Sarcoma. National Cancer Institute. https://www.cancer.gov/cancertopics/pdq/treatment/adult-soft-tissue-sarcoma/Patient/page1.
            2. 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.
            3. Gastrointestinal stromal tumor. Genetics Home Reference. 2017; https://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor#inheritance.
            4. 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.

            Rare Ophthalmology News