Gist

What is GIST?

Gastrointestinal stromal tumor (GIST) is a rare type of cancer that forms in the digestive tract, most often in the stomach or small intestine. It develops from special cells in the wall of the gastrointestinal tract called interstitial cells of Cajal, which help regulate the movement of food through the intestines.
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GISTs can vary greatly in size and behavior — some grow slowly and remain small, while others are more aggressive and spread to other areas of the body. These tumors are unique because they often carry specific gene mutations (most commonly in the KIT or PDGFRA genes) that drive their growth, which also helps doctors choose the most effective targeted treatments.

What Causes GIST?

The exact cause of Gastrointestinal Stromal Tumors (GISTs) isn’t fully understood, but research has shown that most cases are linked to specific changes (mutations) in certain genes that control cell growth.

KIT gene : This mutation causes cells in the digestive tract wall, called interstitial cells of Cajal, to grow and divide uncontrollably.
PDGFRA gene : Similar to KIT, this mutation also triggers abnormal cell growth and can lead to tumor formation.

These genetic changes usually occur sporadically, meaning they happen by chance and are not inherited from parents. However, in very rare cases, GISTs can be part of a genetic syndrome that runs in families.

While there are no specific lifestyle or environmental risk factors known to cause GIST, they are more commonly diagnosed in adults over the age of 40 and occur equally in both men and women.

What Are the Symptoms of GIST?

Gastrointestinal Stromal Tumors (GISTs) can develop anywhere along the digestive tract, most often in the stomach or small intestine. In many cases, these tumors grow slowly and may not cause any noticeable symptoms at first. They are sometimes discovered by chance during imaging or procedures done for other reasons.

Bleeding in the digestive tract, which might appear as black or tarry stools, vomiting blood, or unexplained anemia (low blood count).
Abdominal pain or discomfort, often due to the tumor pressing against other organs.
A feeling of fullness or bloating, even after eating a small amount.
Nausea or vomiting, particularly if the tumor causes a blockage in the intestines.
Unintentional weight loss or loss of appetite.
A noticeable lump or swelling in the abdomen, which can sometimes be felt during a physical exam.

Diagnosis & Screening

How Are GIST Diagnosed?

Gastrointestinal Stromal Tumors (GISTs) are most often detected through imaging tests such as a CT scan, PET/CT scan, or upper gastrointestinal (GI) endoscopy. In some cases, the tumor’s appearance on these scans is so characteristic that doctors can strongly suspect a GIST without needing an immediate biopsy.

Imaging Tests: GISTs are often first detected through imaging such as a CT scan, PET/CT scan, or upper GI endoscopy. Sometimes, the appearance of the tumor on these scans is distinctive enough to suggest GIST without needing an immediate biopsy.
Biopsy and Tissue Sampling: To confirm the diagnosis, doctors may take a biopsy using endoscopy or colonoscopy, depending on the tumor’s location. This helps identify the type of cells and confirm whether the tumor is a GIST.
Endoscopic Ultrasound (EUS): Since GISTs usually develop within the intestinal wall (not on the surface), a regular endoscopy may not always detect them. In such cases, an EUS is used to visualize deeper layers and safely collect tissue samples for diagnosis.

How Are GIST Treated?

Treatment Approach Depends on Tumor Size and Location: Small GISTs, especially in the stomach, may not need immediate surgery and can be monitored with regular scans. Larger or more aggressive tumors usually require surgical removal, and if surgery is risky or the tumor has spread, targeted drug therapy may be used first to shrink it.
Targeted Therapy (Medication Treatment) : GISTs develop from special cells in the intestinal wall called Interstitial Cells of Cajal (ICC) due to mutations in the KIT or PDGFRA genes. Medications like imatinib, sunitinib, and regorafenib help block these abnormal growth signals. These drugs are used before or after surgery or when the tumor has spread to other organs such as the liver.
Surgical Removal: Surgery is the main treatment for most GISTs. Smaller tumors can often be removed using minimally invasive (laparoscopic or robotic) surgery, while larger ones may need open surgery. If the cancer has spread, additional surgery or liver-directed treatments may be necessary.

Minimally Invasive Procedures

Frequently Asked Questions

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