How is Esophageal Cancer Diagnosed?

If symptoms or another test suggest that you might have esophageal cancer, your doctor will perform additional testing. An upper endoscopy with biopsy is the main test used to diagnose esophageal cancer.

Upper endoscopy

Upper endoscopy is also called esophagogastroduodenoscopy, or EGD. During an upper endoscopy, a doctor passes a thin, flexible tube containing a camera through your mouth and into your esophagus. This allows the doctor to directly examine the lining of the esophagus and identify:

• Tumors

• Narrowed areas

• Abnormal tissue

• Barrett's esophagus

• Other changes

Biopsy

If your doctor sees an abnormal area during endoscopy, small tissue samples are removed. A pathologist examines the samples under a microscope. The biopsy determines whether cancer is present and identifies whether it is adenocarcinoma, squamous cell carcinoma, or another type.

Endoscopic ultrasound

Endoscopic ultrasound, or EUS, combines endoscopy with ultrasound. It can help determine:

• How deeply the tumor has grown into the esophageal wall

• Whether nearby lymph nodes look abnormal

• Whether suspicious lymph nodes should be biopsied

This information is important for staging and treatment planning.

CT scan

A CT scan creates detailed images of the inside of the body. CT imaging of the chest and abdomen, and sometimes the pelvis, can show:

• The size and location of the tumor

• Enlarged lymph nodes

• Involvement of nearby organs

• Possible spread to distant organs

PET-CT scan

A PET-CT scan can identify areas of increased metabolic activity that may represent cancer. It is often used when doctors are determining whether esophageal cancer has spread beyond the original tumor and nearby lymph nodes.

Biomarker and molecular testing

Testing the tumor for certain biomarkers has become increasingly important, particularly for advanced esophageal cancer.

HER2

HER2 is a protein involved in cell growth. Some adenocarcinomas have increased HER2 activity and may respond to HER2-targeted treatment.

PD-L1

PD-L1 testing can help doctors determine whether certain immunotherapy treatments may be appropriate.

Mismatch repair and microsatellite instability

Tumors may be tested for mismatch repair deficiency, or dMMR, and microsatellite instability-high, or MSI-H. These abnormalities affect the way cancer cells repair DNA and can predict a strong response to certain immunotherapies.

Next-generation sequencing

Next-generation sequencing tests many cancer-related genes at the same time. For some people with advanced disease, this testing can identify less common molecular changes that may provide additional treatment or clinical trial options.

What happens after esophageal cancer is diagnosed?

Once cancer is confirmed, the next step is determining its stage. Your doctors will combine information from your biopsy, imaging, endoscopic ultrasound, and other tests to determine how far the cancer has grown and whether it has spread.