Extragonadal Germ Cell Tumor Diagnosis Methods

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Extragonadal germ cell tumor diagnosis can be difficult because the cancerous form of these tumors is rare. Doctors will often begin the diagnostic process by asking the patient about more common medical conditions that could present with the same signs and symptoms. For example, if the patient is presenting with fever, cough, and trouble breathing, the doctor may suspect the patient has an upper respiratory infection. Until more thorough diagnostic testing is performed, the actual cause of the patient’s symptoms is often not identified.

Physical Exam

The doctor will begin the diagnostic process with a physical exam. This exam will consist of all normal elements, but the doctor will pay special attention to the area in which the patient’s main symptoms are concentrated. If a patient is showing the symptoms of a pineal tumor, a neurological examination will also be performed. The other tests performed will depend on tumor location.

Presacral Area

Also referred to as the lower-back area, certain tests are done to better assess the tumor. During extragonadal germ cell tumor diagnosis, magnetic resonance imaging or a CT scan may be performed to determine the tumor’s size. To determine if the tumor cells have spread beyond the originating site, a bone scan, CT scan of the lungs, chest x-ray, and bone marrow biopsy or aspirate may be performed. To confirm the diagnosis, a biopsy of the tumor needs to be done.


The mediastinum is the mid-chest area. In 95 percent of cases, a standard chest x-ray will reveal where the tumor is located. The extent of the tumor can be revealed with a CT scan. A CT scan of the abdomen can also be used to determine if the tumor has spread to the liver or other areas of the body. The diagnosis is often confirmed with a biopsy. However, patients with a nonseminoma can be diagnosed through the use of blood tests that are used to look for abnormal levels of beta-human chorionic gonadotropin and alpha-fetoprotein.

Pineal Area

This area refers to the head. Magnetic resonance imaging can show a pineal tumor, as well as provide additional information. However, a CT scan is often done first. The tumor must be removed via surgery and examined in a laboratory in order to make a definitive diagnosis.

Other Testing

Due to the fact that cancers of the blood-forming cells is associated, carefully examining the patient’s bone marrow and blood counts may be included in the diagnostic process. Testing the beta-hCg and AFP levels can help to determine whether the tumor is nonseminoma or seminoma. These can also be measured in the spinal fluid in patient’s with pineal tumors. When spinal fluid is needed for testing, a lumbar puncture is performed.


WebMD. (2010). Extragonadal Germ Cell Tumors Treatment – General Information About Extragonadal Germ Cell Tumors: https://www.webmd.com/cancer/tc/extragonadal-germ-cell-tumors-treatment-patient-information-nci-pdq-general-information-about

Aetna InteliHealth. (2007). Extragonadal Germ Cell Tumors. Retrieved on September 12, 2010 from Aetna InteliHealth: https://www.intelihealth.com/IH/ihtIH/E/9339/24580.html

Sachdeva, K. MD, et al. (2008). Extragonadal Germ Cell Tumors. Retrieved on September 12, 2010 from eMedicine Medscape: https://emedicine.medscape.com/article/278174-overview