Tests to Diagnose and Stage Colorectal Cancer

If you have symptoms that might be from colorectal cancer, or if a screening test shows something abnormal, your doctor will recommend one or more of the exams and tests below to find the cause.

Medical history and physical exam

Your doctor will ask about your medical history to learn about possible risk factors, including your family history. You will also be asked if you’re having any symptoms and, if so, when they started and how long you’ve had them.

As part of a physical exam, your doctor will feel your abdomen for masses or enlarged organs, and also examine the rest of your body. You may also have a digital rectal exam (DRE). During this test, the doctor inserts a lubricated, gloved finger into your rectum to feel for any abnormal areas.

Tests to look for blood in your stool

If you are seeing the doctor because of anemia or symptoms you are having (other than obvious bleeding from your rectum or blood in your stools), a stool test might be recommended to check for blood that isn’t visible to the naked eye (occult blood), which might be a sign of cancer. These types of tests – a fecal occult blood test (FOBT) or fecal immunochemical test (FIT) – are done at home and require you to collect 1 to 3 samples of stool from bowel movements. For more on how these tests are done, see Colorectal Cancer Screening Tests.

(A stool blood test should not be the next test done if you’ve already had an abnormal screening test, in which case you should have a diagnostic colonoscopy, which is described below.)

Blood tests

Your doctor might also order certain blood tests to help determine if you have colorectal cancer. These tests also can be used to help monitor your disease if you’ve been diagnosed with cancer.

Complete blood count (CBC): This test measures the different types of cells in your blood. It can show if you have anemia (too few red blood cells). Some people with colorectal cancer become anemic because the tumor has been bleeding for a long time.

Liver enzymes: You may also have a blood test to check your liver function, because colorectal cancer can spread to the liver.

Tumor markers: Colorectal cancer cells sometimes make substances called tumor markers that can be found in the blood. The most common tumor marker for colorectal cancer is the carcinoembryonic antigen (CEA).

Blood tests for this tumor marker can sometimes suggest someone might have colorectal cancer, but they can’t be used alone to screen for or diagnose cancer. This is because tumor marker levels can sometimes be normal in someone who has cancer and can be abnormal for reasons other than cancer.

Tumor marker tests are used most often along with other tests to monitor patients who have already been diagnosed with colorectal cancer and are receiving treatment. They may help show how well treatment is working or provide an early warning that a cancer has returned.

Diagnostic colonoscopy

A diagnostic colonoscopy is just like a screening colonoscopy, but it’s done because a person is having symptoms, or because something abnormal was found on another type of screening test.

For this test, the doctor looks at the entire length of the colon and rectum with a colonoscope, a thin, flexible, lighted tube with a small video camera on the end. It is inserted through the anus and into the rectum and the colon. Special instruments can be passed through the colonoscope to biopsy or remove any suspicious-looking areas such as polyps, if needed.

Colonoscopy may be done in a hospital outpatient department or in a surgery clinic.

To learn more about colonoscopy, how it’s done, and what to expect if you have one, see Colonoscopy.

Proctoscopy

This test may be done if rectal cancer is suspected. For this test, the doctor looks inside the rectum with a proctoscope, a thin, rigid, lighted tube with a small video camera on the end. It’s put in through the anus. The doctor can look closely at the inside lining of the rectum through the scope. The tumor can be seen, measured, and its exact location can be determined. For instance, the doctor can see how close the tumor is to the sphincter muscles that control the passing of stool.

Biopsy

If a suspected colorectal tumor is found during a screening or diagnostic test, it usually is biopsied. In a biopsy, the doctor removes a small piece of tissue with a special instrument passed through the scope. Less often, part of the colon may need to be surgically removed to make the diagnosis. See Biopsy and Cytology Tests for Cancer to learn more about the types of biopsies, how the tissue is used in the lab to diagnose cancer, and what the results may show.

Lab tests of biopsy samples

Biopsy samples (from colonoscopy or surgery) are sent to the lab where they are looked at closely. If cancer is found, other lab tests may also be done on the biopsy samples to help better classify the cancer and guide specific treatment options.

Molecular tests: If the cancer is advanced, the cancer cells will probably be tested for specific gene and protein changes that might help tell if targeted therapy drugs could be options for treatment. For example, the cancer cells are typically tested for changes (mutations) in the KRAS, NRAS, and BRAF genes, as well as other gene and protein changes.

• If the cancer cells are not found to have a mutation(s) in the KRAS, NRAS, or BRAF genes, then treatment with drugs that target EGFR proteins might be helpful.
• If the cancer cells are found to have a mutation in the BRAF gene, known as BRAF V600E, then treatment with drugs that target the BRAF and EGFR proteins might be helpful.
• Some colorectal cancers that don’t have mutations in the KRAS, NRAS, or BRAF genes might be tested to see if they make too much of the HER2 protein. For these cancers, treatment with drugs that target HER2 might be helpful.
• Colorectal cancers that don't have mutations in the KRAS, NRAS, or BRAF genes might also be tested for changes in the NTRK genes. These gene changes can lead to abnormal cell growth. For cancers that have one of these gene changes, drugs that target the proteins coded for by the NTRK genes might be helpful.

For more on the targeted drugs that might be used, see Targeted Therapy Drugs for Colorectal Cancer.

MSI and MMR testing: Colorectal cancer cells are also typically tested to see if they have high numbers of gene changes called microsatellite instability (MSI). Testing might also be done to check for changes in any of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2) or the proteins they encode. EPCAM, another gene, is also routinely checked.

Changes in MSI or in MMR genes (or both) are often seen in people with Lynch syndrome (HNPCC). Most colorectal cancers do not have high levels of MSI or changes in MMR genes. But most colorectal cancers that are linked to Lynch syndrome do.

There are 2 possible reasons to test colorectal cancers for MSI or for MMR gene changes:

• To determine if certain immunotherapy drugs might be options for treatment
• To identify people who should be tested for Lynch syndrome. People with Lynch syndrome are at higher risk for some other cancers, so they are typically advised to get other cancer screenings (for example, women with Lynch syndrome may need to be screened for endometrial cancer). Also, if a person has Lynch syndrome, their relatives could have it as well, and may want to be tested for it.

For more on lab tests that might be done on biopsy samples, see Colon and Rectal Pathology.

Imaging tests to look for colorectal cancer

Imaging tests use sound waves, x-rays, magnetic fields, or radioactive substances to create pictures of the inside of your body. Imaging tests may be done for a number of reasons, such as:

• To look at suspicious areas that might be cancer
• To learn how far cancer might have spread
• To help determine if treatment is working
• To look for signs of cancer coming back after treatment

Computed tomography (CT or CAT) scan

A CT scan uses x-rays to make detailed cross-sectional images of your body. This test can help tell if colorectal cancer has spread to nearby lymph nodes or to your liver, lungs, or other organs.

CT-guided needle biopsy: If a biopsy is needed to check for cancer spread, this test can also be used to guide a biopsy needle into the mass (lump) to get a tissue sample to check for cancer.

Ultrasound

Ultrasound uses sound waves and their echoes to create images of the inside of the body. A small microphone-like instrument called a transducer gives off sound waves and picks up the echoes as they bounce off organs. The echoes are converted by a computer into an image on a screen.

Abdominal ultrasound: For this exam, a technician moves the transducer along the skin over your abdomen. This type of ultrasound can be used to look for tumors in your liver, gallbladder, pancreas, or elsewhere in your abdomen, but it can’t look for tumors of the colon or rectum.

Endorectal ultrasound: This test uses a special transducer that is inserted into the rectum. It is used to see how far through the rectal wall a cancer has grown and whether it has reached nearby organs or lymph nodes.

Intraoperative ultrasound: This exam is done during surgery. The transducer is placed directly against the surface of the liver, making this test very useful for detecting the spread of colorectal cancer to the liver. This allows the surgeon to biopsy the tumor, if one is found, while the patient is asleep.

Magnetic resonance imaging (MRI) scan

Like CT scans, MRI scans show detailed images of soft tissues in the body. But MRI scans use radio waves and strong magnets instead of x-rays. A contrast material called gadolinium may be injected into a vein before the scan to get clear pictures.

MRI can be used to look at abnormal areas in the liver or the brain and spinal cord that could be cancer spread.

Endorectal MRI: An MRI scan of the pelvis can be used in patients with rectal cancer to see if the tumor has spread into nearby structures. To improve the accuracy of the test, some doctors use an endorectal MRI. For this test, the doctor places a probe, called an endorectal coil, inside the rectum. This stays in place for 30 to 45 minutes during the test and might be uncomfortable. The endorectal MRI  helps stage rectal cancer and guides decision-making in regard to surgery and treatment.

Chest x-ray

An x-ray might be done after colorectal cancer has been diagnosed to see if cancer has spread to the lungs, but more often a CT scan of the lungs is done since it tends to give more detailed pictures.

Positron emission tomography (PET) scan

For a PET scan, a slightly radioactive form of sugar (known as FDG) is injected into the blood and collects mainly in cancer cells. PET scans are generally done to help see if the cancer has spread to other parts of the body, outside of the colon or rectum. However, they do not show if cancer has spread to the brain.

Angiography

Angiography is an x-ray test for looking at blood vessels. A contrast dye is injected into an artery, and then x-rays are taken. The dye outlines the blood vessels on x-rays.

If your cancer has spread to the liver, this test can show the arteries that supply blood to those tumors. This can help surgeons decide if the liver tumors can be removed and if so, it can help plan the operation. Angiography can also help in planning other treatments for cancer spread to the liver, like embolization.