Rare Classroom: Gastrointestinal Stromal Tumor

Welcome to the Rare Classroom, a new series from Patient Worthy. Rare Classroom is designed for the curious reader who wants to get informed on some of the rarest, most mysterious diseases and conditions. There are thousands of rare diseases out there, but only a very small number of them have viable treatments and regularly make the news. This series is an opportunity to learn the basics about some of the diseases that almost no one hears much about or that we otherwise haven’t been able to report on very often.

Eyes front and ears open. Class is now in session.

The disease that we will be learning about today is:

Gastrointestinal Stromal Tumor

What is Gastrointestinal Stromal Tumor?

  • Gastrointestinal stromal tumor is a disease in which abnormal cells form in the tissues of the gastrointestinal tract
  • Gastrointestinal stromal tumors (GISTs) may be malignant (cancer) or benign (not cancer). They are most common in the stomach and small intestine but may be found anywhere in or near the GI tract. Some scientist believe that GISTs begin in cells called interstitial cells of Cajal (ICC), in the wall of the GI tract.
  • Gastrointestinal stromal tumors (GISTs) may be found anywhere in or near the gastrointestinal tract.
  • Gastrointestinal stromal tumors (GISTs) are not common, and the exact number of people diagnosed with these tumors each year is not known. Until the late 1990s, not much was known about these tumors (and doctors didn’t have good ways of identifying them with lab tests), so many of them ended up being classified as other kinds of GI cancers. 
  • Current estimates for the total number of GIST cases each year in the United States range from about 4,000 to about 6,000. 
  • These tumors can start anywhere in the GI tract, but they occur most often in the stomach (about 60%) or the small intestine (about 35%). 
  • Most of the rest are found in the esophagus, colon, and rectum. A small number develop in the abdomen outside the GI tract. GISTs are most commonly found in people in their 60s. These tumors are rare in people younger than 40, but they can occur in people at any age.

How Do You Get It?

  • Genetic factors can increase the risk of having a gastrointestinal stromal tumor.
  • The risk of GIST is increased in people who have inherited a mutation (change) in a certain gene. In rare cases, GISTs can be found in several members of the same family.
  • GIST may be part of a genetic syndrome, but this is rare. A genetic syndrome is a set of symptoms or conditions that occur together and is usually caused by abnormal genes.
  • The following genetic syndromes have been linked to GIST:​
  • Neurofibromatosis type 1 (NF1).​
  • Carney triad
  • Primary familial GIST syndrome: This is a rare, inherited condition that leads to an increased risk of developing GISTs. People with this condition tend to develop GISTs at a younger age than when they usually occur. They are also more likely to have more than one GIST.
    • Most often, this syndrome is caused by an abnormal KIT gene passed from parent to child. This is the same gene that is mutated (changed) in most sporadic GISTs. 
    • People who inherited this abnormal gene from a parent have it in all their cells, while people with sporadic GISTs only have it in the cancer cells.

What Are The Symptoms?

  • Signs of gastrointestinal stromal tumors include blood in the stool or vomit.
  • Pain in the abdomen, which may be severe.​
  • Feeling very tired.​
  • Trouble or pain when swallowing.​
  • Feeling full after only a little food is eaten.​

How Is It Treated?

  • Certain factors affect prognosis (chance of recovery) and treatment options.
  • Treatment options include:
    • Surgery
    • Targeted therapies (ex. imatinib)​
  • The prognosis (chance of recovery) and treatment options depend on the following:​
    • How quickly the cancer cells are growing and dividing.​
    • The size of the tumor.​
    • Where the tumor is in the body.​
    • Whether the tumor can be completely removed by surgery.​
    • Whether the tumor has spread to other parts of the body.​

Where Can I Learn More???

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