Detection and Diagnosis of Esophageal Cancer

If you experience symptoms of esophageal cancer, your doctor will conduct tests to confirm whether you have the disease or if your symptoms are caused by something else.

The following tests and procedures can be used to detect and diagnose esophageal cancer:

Physical Exam and Review of Medical History

A physical exam of the body can check your general health and look for signs of esophageal cancer, such as lumps or anything else that seems unusual. Your doctor will also take a record of your health habits, past illnesses, and treatments. 

Imaging Tests to Diagnose Esophageal Cancer

Your doctor may request imaging tests such as:

  • Barium swallow: An imaging test that uses X-rays and a chalky liquid called barium to outline the esophagus, making any abnormal areas more visible.
  • Computed tomography (CT) scan: This creates a 3-D image of the inside of the body using X-rays taken from different angles. It also helps determine if esophageal cancer has spread to other areas of the body.
  • Positron emission tomography (PET) scan: This test uses a small amount of radioactive material to create detailed images of the organs and tissues. A PET scan may be combined with a CT scan (PET/CT scan).
  • Magnetic resonance imaging (MRI): This uses radio waves and strong magnets instead of X-rays to produce detailed images of soft tissues in the body.

Endoscopy

An endoscope is a flexible, narrow tube equipped with a tiny video camera and light used to look inside the body. Endoscopic tests can help diagnose esophageal cancer and determine its spread:

  • Upper endoscopy: To identify any abnormal areas, an endoscope is passed through the mouth and down the throat into the esophagus, stomach, and duodenum (the first part of the small intestine).
  • Endoscopic ultrasound: This procedure combines endoscopy and ultrasound to create images of the esophagus and nearby lymph nodes.
  • Bronchoscopy: This procedure uses a bronchoscope to check whether cancer in the upper esophagus has spread to the trachea (windpipe) or bronchi (the tubes leading from the windpipe into the lungs).
  • Thoracoscopy and laparoscopy: These exams allow the doctor to view lymph nodes and other organs near the esophagus—inside the chest through thoracoscopy and inside the abdomen through laparoscopy—utilizing a hollow, lighted tube.

Esophagus Biopsy to Confirm Cancer

A biopsy is usually performed during an endoscopy procedure. It involves removing cells or tissues so a pathologist can view them under a microscope to look for signs of cancer. Sometimes, a biopsy shows changes in the esophagus that are not cancer but can lead to cancer. 

Testing Tissue Samples for Biomarkers 

Specific lab tests may be conducted on the tissue sample to determine whether particular treatments, such as targeted therapy or immunotherapy, may be beneficial. These tests might include:

  • HER2 testing: If esophageal cancer is too advanced for surgery, biopsy samples may be tested for the HER2 gene or protein, which can promote cancer cell growth.
  • PD-L1 testing: Some esophageal cancers may be tested to measure the levels of the PD-L1 protein.
  • MMR and MSI testing: Esophageal cancer cells might be examined for high levels of gene changes known as microsatellite instability (MSI) or alterations in any of the mismatch repair (MMR) genes (MLH1, MSH2, MSH6, and PMS2).

After testing the samples, the pathologist prepares a report detailing the findings. Your esophageal cancer doctor will review the results with you and use this information to help develop your treatment plan.

Blood Tests

Your doctor may order specific blood tests if they suspect you have esophageal cancer:

  • Complete blood count (CBC): This test measures the different types of cells in your blood and can reveal anemia (a low count of red blood cells). Some individuals with esophageal cancer may have low red blood cell counts due to tumor bleeding.
  • Liver enzymes: A blood test may also be conducted to assess liver function, as esophageal cancer can sometimes spread to the liver.

Can Esophageal Cancer Be Found Early?

Currently, there is no screening available for individuals at average risk. However, people considered at high risk for esophageal cancer, such as those with Barrett's esophagus or certain inherited genetic mutations like tylosis or Bloom syndrome, may need more frequent monitoring with upper endoscopy screening.

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I Have Esophageal Cancer: Now What?

If you've been newly diagnosed with esophageal cancer, your oncologist may conduct additional tests to determine if the cancer has spread. This process, which helps assess the extent of the cancer, is called staging. Cancer staging often involves imaging tests that look for signs of cancer in your lymph nodes or other parts of your body. The results of these staging tests are essential for your care team in developing your esophageal cancer treatment plan.

Learn more about the esophageal cancer staging process.