Diagnosis of Cancer

ByRobert Peter Gale, MD, PhD, DSC(hc), Imperial College London
Reviewed/Revised Sept 2024
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Cancer is suspected based on a person's symptoms, the results of a physical examination, abnormalities on laboratory studies done for other reasons, and sometimes the results of screening tests. Occasionally, x-ray studies done for other reasons, such as an injury, show abnormalities that might be cancer. Confirmation that cancer is present requires other tests (termed diagnostic tests).

After cancer is diagnosed, it is staged. Staging is a way of describing how advanced the cancer has become, including such criteria as how big it is and whether it has spread to neighboring tissues or more distantly to lymph nodes or other organs.

Imaging tests

Usually, when a doctor first suspects cancer, some type of imaging study, such as x-ray studies, ultrasound scans, or computed tomography scans (CT), is done. For example, a person with chronic cough and weight loss might have a chest x-ray study. A person with recurrent headaches and trouble seeing might have brain CT or magnetic resonance imaging (MRI) scanning. Although these tests can show the presence, location, and size of an abnormal mass, they cannot confirm that cancer is the cause.

Biopsy

Cancer is confirmed by obtaining a piece of the tumor through needle biopsy or surgery and finding cancer cells on microscopic examination of samples from the suspected area. Usually, the sample must be a piece of tissue, although sometimes examination of the blood is adequate (such as in leukemia). Obtaining a tissue sample is termed a biopsy.

Biopsies can be done by cutting out a small piece of tissue with a scalpel, but very commonly the sample is obtained using a hollow needle. Such tests are commonly done without the need for an overnight hospital stay (outpatient procedure). Doctors often use ultrasound or CT scanning to guide the needle to the right location. Because biopsies can be painful, the person is usually given a local anesthetic to numb the area.

Cancer biomarkers (also called tumor markers)

When examination findings or imaging test results suggest cancer, measuring blood levels of cancer biomarkers (substances secreted into the bloodstream by certain tumors) may provide additional evidence for or against the diagnosis of cancer. In people who have been diagnosed with certain types of cancer, cancer biomarkers may be useful to monitor the effectiveness of treatment and to detect possible recurrence of the cancer. For some cancers, the level of a cancer biomarker drops after treatment and increases if the cancer recurs.

Some cancer biomarkers cannot be measured in the blood but instead can be found on tumor cells. These biomarkers are found by examining tissue from a biopsy sample. HER2 and EGFR are examples of tumor markers found on tumor cells.

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Staging Cancer

After cancer is diagnosed, staging tests help determine how extensive the cancer is in terms of its location, size, growth into nearby structures, and spread to other parts of the body. People with cancer sometimes become impatient and anxious during staging tests, wishing for a prompt start of treatment. However, staging allows doctors to determine the most appropriate treatment as well as help to determine prognosis.

Staging may use scans or other imaging tests, such as x-rays, CT, MRI, bone scans with radioactive materials, or positron emission tomography (PET). The choice of staging test(s) depends on the type of cancer. CT scanning is used to detect cancer in many parts of the body, including the brain and lungs and parts of the abdomen, including the adrenal glands, lymph nodes, liver, and spleen. MRI is of particular value in detecting cancers of the brain, bones, and spinal cord.

Biopsies are often needed to confirm the presence of tumor for staging purposes and can sometimes be done together with the initial surgical treatment of a cancer. For example, during a laparotomy (an abdominal operation) to remove colon cancer, a surgeon removes nearby lymph nodes to check for spread of the cancer. During surgery for breast cancer, the surgeon biopsies or removes a lymph node located in the armpit (the first lymph nodes to which cancer is likely to spread, also called a sentinel lymph node) to determine whether the breast cancer has spread there. Evidence of spread, along with features of the primary tumor, helps the doctor determine whether further treatment is needed.

When staging is based only on initial biopsy results, physical examination, and imaging, the stage is referred to as clinical. When the doctor uses results of a surgical procedure or additional biopsies, the stage is referred to as pathologic or surgical. The clinical and pathologic (surgical) stages may differ.

In addition to imaging tests, doctors often obtain blood tests to see if the cancer has begun to affect the liver, bones, or kidneys.

Grading Cancer

Grading is a measure of how quickly the cancer is growing or spreading (called aggressiveness). A cancer's grade can help doctors determine prognosis. Grade is determined by examining the tissue specimen obtained during a biopsy. Grade is based on the degree of abnormality of the appearance of cancer cells on microscopic examination. More abnormal appearing cells are more aggressive. For many cancers, grading scales have been developed.

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