Esophageal Cancer: Diagnosis

Approved by the Cancer.Net Editorial Board, 09/2022

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.

Doctors use many tests to find, or diagnose, cancer. They also do tests to learn if cancer has spread to another part of the body from where it started. If the cancer has spread, it is called metastasis. Doctors may also do tests to learn which treatments could work best.

For most types of cancer, a biopsy is the only sure way for the doctor to know if an area of the body has cancer. In a biopsy, the doctor takes a small sample of tissue for testing in a laboratory. If a biopsy is not possible, the doctor may suggest other tests that will help make a diagnosis.

How esophageal cancer is diagnosed

There are many tests used for diagnosing esophageal cancer. Not all tests described here will be used for every person. Your doctor may consider these factors when choosing a diagnostic test:

  • The type of cancer 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 esophageal cancer:

  • Barium swallow, also called an esophagram. The patient swallows a liquid containing barium and then a series of x-rays are taken. An x-ray is a way to take a picture of the inside of the body. Barium coats the surface of the esophagus, making a tumor or other unusual changes easier to see on the x-ray. If there is an area looks abnormal, your doctor may recommend an upper endoscopy and biopsy to find out if it is cancerous (see below).

  • Upper endoscopy, also called esophagus-gastric-duodenoscopy, or EGD. An upper endoscopy allows the doctor to see the lining of the esophagus. A thin, flexible tube with a light and video camera on the end, called an endoscope, is passed down the throat and into the esophagus while the patient is sedated. Sedation is giving medication to become more relaxed, calm, or sleepy. If there is an abnormal looking area, a biopsy will be performed to find out if it is cancerous. An endoscopy using an inflatable balloon to stretch the esophagus can also help widen the blocked area so that food can pass through until treatment begins.

  • Endoscopic ultrasound. This procedure is often done at the same time as the upper endoscopy. During an ultrasound, sound waves provide a picture of the wall of the esophagus and nearby lymph nodes and structures. During an endoscopic ultrasound, an endoscopic probe with an attached ultrasound that produces the sound waves is inserted into the esophagus through the mouth. The ultrasound is used to find out if the tumor has grown into the wall of the esophagus, how deep the tumor has grown, and whether cancer has spread to the lymph nodes or other nearby structures. An ultrasound can also be used to help get a tissue sample from the lymph nodes.

  • Bronchoscopy. Similar to an upper endoscopy, the doctor passes a thin, flexible tube with a light on the end into the mouth or nose, down through the windpipe, and into the breathing passages of the lungs. A bronchoscopy may be performed if a tumor is located in the upper two-thirds of the esophagus to find out if the tumor is growing into the airway. This part of the airway includes the trachea, or windpipe, and the area where the windpipe branches out into the lungs, called the bronchial tree.

  • Biopsy. Other tests can suggest that cancer is present, but only a biopsy can make a definite diagnosis. A biopsy is the removal of a small amount of tissue from the suspicious area for examination. A pathologist then analyzes the sample(s). A pathologist is a doctor who specializes in interpreting laboratory tests and evaluating cells, tissues, and organs to diagnose disease.

  • Biomarker testing of the tumor. Your doctor may recommend running 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.

    • PD-L1 and microsatellite instability (MSI) testing. Testing may be done for PD-L1 and high microsatellite instability (MSI-H), which may also be called a mismatch repair deficiency. The results of these tests help doctors find out if a treatment called immunotherapy is an option (see Types of Treatment). The PD-1/PD-L1 pathway is an immune checkpoint. These checkpoints are critical to the immune system’s ability to control cancer growth. Many cancers use these pathways to escape the immune system. If specific antibodies are given for treatment to block these pathways, the immune system may be able to overcome the suppression by the cancer. These antibodies are called immune checkpoint inhibitors. Drugs that target this pathway can be effective against MSI high or MSI-H, or PD-L1 positive esophageal cancers. PD-L1 and MSI testing is more common for advanced or stage IV esophageal cancer.

    • HER2 testing. Human epidermal growth receptor 2 (HER2) is a specialized protein found on the surface of cells. Many people are more familiar with HER2 when discussing breast cancer. However, doctors are finding that HER2 is also important in other types of cancer. When a cancer has abnormally high levels of HER2, it can drive its growth and spread. These types of cancer are referred to as HER2-positive. For HER2-positive cancers, certain types of targeted therapy may work well to treat these cancers. For patients diagnosed with gastroesophageal adenocarcinoma, ASCO, the American Society for Clinical Pathology (ASCP), and the College of American Pathologists (CAP) recommend HER2 testing to help guide treatment (please note, this link takes you to another ASCO website).

  • Computed tomography (CT or CAT) scan. A CT scan creates 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. Usually, a special dye called a contrast medium is given before the scan to provide better detail. This dye is generally injected into a patient’s vein.

  • Magnetic resonance imaging (MRI). An MRI uses magnetic fields, not x-rays, to produce detailed images of the body. MRI can be used to measure the tumor’s size. A contrast medium is usually injected into a patient’s vein to create a clearer picture.

  • Positron emission tomography (PET) or PET-CT scan. 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 PET scan is a way to create pictures of organs and tissues inside the body. 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.

After diagnostic tests are done, your doctor will review the results with you. If the diagnosis is cancer, these results also help the doctor describe the cancer. This is called staging.

The next section in this guide is Stages and Grades. 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.