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Gastrointestinal Stromal Tumor

What is Gastrointestinal Stromal Tumor?

A gastrointestinal stromal tumor (GIST) is a cancer that occurs in the gastrointestinal tract, typically in the stomach or small intestine. GISTs affect the soft tissue of the digestive tract, including tissues such as fat, muscle, nerves, tendons, and blood and lymph vessels.  It is believed that the tumors develop from specialized cells known as Interstitial Cells of Cajal (ICCs), which are the pacemaker cells that regulate the muscle contractions that move food through the digestive tract. The tumors can be either benign or malignant. GISTs have several subtypes, each associated with different characteristics, prognoses, symptoms and causes.

 

Synonyms

  • Gastrointestinal Stromal Tumor

A gastrointestinal stromal tumor (GIST) is a cancer that occurs in the gastrointestinal tract, typically in the stomach or small intestine. GISTs affect the soft tissue of the digestive tract, including tissues such as fat, muscle, nerves, tendons, and blood and lymph vessels.  It is believed that the tumors develop from specialized cells known as Interstitial Cells of Cajal (ICCs), which are the pacemaker cells that regulate the muscle contractions that move food through the digestive tract. The tumors can be either benign or malignant. GISTs have several subtypes, each associated with different characteristics, prognoses, symptoms and causes.

Acknowledgement of Gastrointestinal Stromal Tumor has not been added yet.

GISTs occur in approximately 10 per one million people. About 5,000 individuals are diagnosed with GIST in the United States annually. Most GISTs occur in individuals at the ages between 40-70 and occurs equally between genders. GISTs that occur in children and young adults are much rarer and represent 15% of the GISTs that are diagnosed. They are considered different and appear more commonly in females. Most GISTs are acquired and less than 5% occur from hereditary reasons.

Name Abbreviation
Gastrointestinal Stromal Tumor GIST

The formation of GISTs tends to be a result of genetic mutations, most commonly in the KIT gene, occasionally in the PDGFRA gene, and rarely in other genes.  These genes provide instructions for producing receptor proteins that are found in the cell membrane of certain cells.  These proteins stimulate signaling pathways that control many important cellular processes, including cell growth and division. As a result of the mutation, these signals are constantly activated causing an increase in cell proliferation and leading to a tumor.  In most people, these genetic mutations occur during their lives and are only found in the cells of the tumor; they are not passed on to any children. In the case of familial GIST (inherited) the mutations appear to be inherited in an autosomal dominant pattern, signifying that one copy of the mutated gene (from either parent) in the child is sufficient to cause the disorder.  

GISTs often lead to abdominal pain, bleeding in the gastrointestinal tract and a mass that can be seen or felt in the area.  Bleeding can lead to paleness, light-headedness and fatigue. Other symptoms include bloating, and feeling full sooner than normal. Affected individuals can also experience weight loss, fever, and urinary symptoms. In some cases where the tumor is located in the esophagus, individuals can have difficulty swallowing. The tumor spreads most commonly to sites within the abdominal cavity and around the liver. Sometimes, affected individuals have a skin condition known as urticaria pigmentosa, where there are raised patches of brownish skin that sting or itch when touched.

The diagnosis is made with a biopsy sample that is analyzed for the characteristics of GISTs in cells. CT scanning is often utilized. GIST can also be diagnosed through immunohistochemistry, looking for the antigen CD117, which is characteristic of GIST cancer cells. Genetic sequencing of the KIT and PDGFRA genes can also be used to confirm the diagnosis.

Diagnostic tests of Gastrointestinal Stromal Tumor has not been added yet

For individuals with GISTs that are localized to one area of the body and have not spread to other regions, surgery is the primary and most efficient treatment.  If the tumor is completely removed, surgery can cure the condition. Standard chemotherapies are not effective, with a less than 5% response rate in individuals. A drug known as Imatinib mesylate that inhibits the KIT and PDGFRA proteins responsible for the GIST has been found to be effective in controlling the tumor spread.  In many cases, Imatinib mesylate helps to decrease the tumor size and stabilize it for many months. However, in some individuals, a resistance to the drug has developed.

The prognosis for individuals with GIST is varied. It depends on the degree of aggressiveness the tumor exhibits and if it begins to metastasize in other regions of the body. Often, the tumors that originate in the intestine have poorer prognoses than those that originate in the stomach. GISTs are divided into low, intermediate, and high-risk categories based on their potential for recurrence and metastases.

Often, affected individuals are anxious about the potential side effects of the various treatment options for GISTs. It is best to ask your healthcare provider the details of any side effects and how to cope with them. Patients and their families are recommended to share their feelings with each other and their healthcare provider to develop coping strategies to deal with the emotional stress that can arise from the disease.

Chandu de Silva, MV, Reid, R. https://www.orpha.net/data/patho/GB/uk-GIST.pdf. Orphanet.  https://www.orpha.net/data/patho/gb/uk-gist.pdf.

GASTROINTESTINAL STROMAL TUMOR; GIST. OMIM. 2012. Available at: http://www.omim.org/entry/606764.

Gastrointestinal Stromal Tumors - NORD (National Organization for Rare Disorders). NORD National Organization for Rare Disorders Gastrointestinal Stromal Tumors Comments. Available at: https://rarediseases.org/rare-diseases/gastrointestinal-stromal-tumors/.

Gastrointestinal stromal tumor. Genetics Home Reference. Available at: http://ghr.nlm.nih.gov/condition/gastrointestinal-stromal-tumor

The portal for rare diseases and orphan drugs. Orphanet: Gastrointestinal stromal tumor. Available at: http://www.orpha.net/consor/cgi-bin/oc_exp.php?lng=gb&expert=44890.0

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