ON THIS PAGE: You will find a list of common tests, procedures, and scans that doctors use to find the cause of a medical problem. Use the menu to see other pages.
How a gastrointestinal stromal tumor (GIST) is diagnosed
There are different tests used for diagnosing a GIST. Your doctor may consider these factors when choosing a diagnostic test:
The type of tumor suspected
Your signs and symptoms
Your age and general health
The results of earlier medical tests
In addition to a physical examination, the following tests may be used to diagnose GIST or determine the best treatment plan. Not all tests described here will be used for every person.
Computed tomography (CT or CAT) scan. A CT scan is often the best test to diagnose and monitor a GIST. A CT scan takes pictures of the inside of the body using x-rays taken from different angles. A computer combines these pictures into a detailed, 3-dimensional image that shows any abnormalities or tumors. A CT scan can be used to measure the tumor’s size or help doctors determine whether the cancer has spread to the liver or gut lining. Sometimes, a special dye called a contrast medium is given before the scan to provide better detail on the image. This dye can be injected into a patient’s vein or given as a pill or liquid to swallow.
Endoscopy/endoscopic ultrasound. An endoscopy allows the doctor to see the inside of the stomach or large bowel. The patient may be sedated. Sedation is giving medication to make a patient more relaxed, calm, or sleepy. With an upper endoscopy, the doctor inserts a thin, lighted tube called a gastroscope through the mouth, down the esophagus, and into the stomach and upper small bowel. With lower endoscopy, the scope is inserted through the anus to visually evaluate the rectum and colon. If abnormal areas are found, the doctor can remove a sample of tissue and check it for evidence of cancer (see "Biopsy," below).
An endoscopic ultrasound is similar to an endoscopy, but the scope has a small ultrasound probe on the end. The probe uses sound waves to create an image of the stomach or rectum and nearby organs. The ultrasound image helps doctors find out if or how far the cancer has spread into nearby tissues.
Capsule endoscopy. An endoscopy allows the doctor to see some, but not all, of the gastrointestinal tract. Because of this, the doctor may recommend a capsule endoscopy. A capsule endoscopy involves swallowing a small, pill-sized capsule that contains a tiny camera and light. Pictures are collected from the capsule as it travels through the patient’s gastrointestinal system. The capsule exits the body during the patient’s next bowel movement.
Magnetic resonance imaging (MRI). An MRI produces detailed images of the inside of the body using magnetic fields, not x-rays. MRI can be used to measure the tumor’s size. A special dye called a contrast medium is given before the scan to create a clearer picture. This dye can be injected into a patient’s vein or given as a pill or liquid to swallow.
If a tumor (also called a mass or nodule) is found, the doctor will also do tests to learn if it is cancerous. For most types of tumors, a biopsy is the only sure way for the doctor to know if an area of the body has cancer. If a biopsy is not possible, the doctor may suggest other tests that will help make a diagnosis.
Biopsy. Your doctor may recommend a biopsy if a mass suspected of being a GIST is found. A biopsy is the only way to make a definite diagnosis, even if other tests can suggest that cancer is present. During biopsy, a small amount of tissue is removed for examination under a microscope. The type of biopsy performed will depend on the location of the tumor. A pathologist analyzes the sample. A pathologist is a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease.
Based on the results of imaging scans, your doctor may recommend a biopsy or surgery. Sometimes a GIST is hard to reach, and the results of scans and endoscopy images may clearly suggest that a GIST is present and could be surgically removed without the need for a biopsy first. However, it is very important that you meet with a team of medical and surgical oncologists experienced in treating GIST before a big surgery.
Tumor pathology. A pathologist makes a diagnosis of GIST by looking at the shape and appearance of tumor cells, doing tests for a protein called KIT and other tumor markers, and finding the mitotic count (a way of measuring how many cells are actively dividing; see Stages for more information). Because GISTs are rare, an experienced pathologist with expertise in sarcoma should review the tissue sample.
Biomarker testing of the tumor. Your doctor or pathologist may recommend running additional laboratory tests on a tumor sample to identify specific genes, proteins, and other factors unique to the tumor. This may also be called molecular testing of the tumor. Results of these tests can help determine your treatment options.
GIST most often develops because of genetic mutations, also called changes or alterations. This includes tumors that are not inherited. The 2 most common affected genes in GIST are called KIT and PDGFRA. A GIST typically starts with a single mutation in 1 of these genes. Different mutations may guide treatment decisions and lead to different prognoses. Prognosis is the likely outcome of a disease. Over time, additional mutations may occur that can make a treatment stop working. When a tumor does not have a mutation in any gene that is tested for, it is called “wild type” (WT).
Researchers are finding more mutations thought to cause GIST that may be used to help choose a patient’s treatment options. A protein called succinate dehydrogenase (SDH) is 1 of them. Other genes, including BRAF and NTRK, are occasionally changed in people with other types of cancer, such as melanoma or colorectal cancer.
The results of biomarker testing may help your doctor make treatment recommendations. This could include what size dose of a drug called imatinib (Gleevec, Glivec) to use or whether no further treatment or a different drug is recommended. This is discussed more in the Types of Treatment section.
Positron emission tomography (PET) or PET-CT scan. A PET scan creates pictures of organs and tissues inside the body. A PET scan is usually combined with a CT scan (see above), called a PET-CT scan. However, you may hear your doctor refer to this procedure just as a PET scan. A small amount of a radioactive sugar substance is injected into the patient’s body. This sugar substance is taken up by cells that use the most energy. Because cancer tends to use energy actively, it absorbs more of the radioactive substance. However, the amount of radiation in the substance is too low to be harmful. A scanner then detects this substance to produce images of the inside of the body. Doctors may use PET scans to detect the amount of the sugar substance taken up by the tumor. This information helps measure how well the treatment is working, because sometimes GIST tumors do not change in size even when treatment is working.
After your diagnostic tests, your doctor will review the results with you. If the diagnosis is GIST, some of these results also help the doctor describe the tumor. This is called staging.
The next section in this guide is Stages. It explains the system doctors use to describe the extent of the disease. Use the menu to choose a different section to read in this guide.