Diagnosis of Childhood Germ Cell Tumor

Executive Summary

Different tests are available to diagnose childhood germ cell tumor development, depending on signs and symptoms, age and health status, types of tumor, and earlier medical tests. Physical examination, imaging tests, and biopsies are the diagnostic approaches for diagnosing childhood germ cell tumors. The most common diagnosis of childhood germ cell tumor includes medical examinations such as biopsy, histologic examination (blood test: Alpha-fetoprotein (AFP), Beta HCG), imaging tests (ultrasound, Computed tomography (CT or CAT) scan, and Magnetic resonance imaging (MRI)).

Diagnosis of Childhood Germ Cell tumor

Various tests are now at our disposal to diagnose cancer. These tests are also performed in cases to know whether the gastrointestinal tumor has spread to parts other than where it started.  A biopsy is indeed a sure way to know if you have cancer in a particular part or organ of the body for most types of cancer. Imaging tests can also help doctors determine if the tumor is primary or if the cancer has metastasized elsewhere in the body.

There are different tests for each person depending upon the following factors – 

  • Your signs and symptoms
  • The age and general health status
  • The type of cancer suspected
  • The result of earlier medical tests

In addition to a physical examination, the below-mentioned tests may help diagnose Germ Cell Tumor and decide the best treatment plan ​1​

Medical Examinations

  • Biopsy – The doctor may recommend a biopsy if a mass that is similar to GIST is found. A biopsy removes a small part of tissue to examine under a microscope. A biopsy can also be done as surgery to remove the entire tumor. Surgery can also be performed as a separate procedure in certain cases. In case, the complete removal of the tumor is not possible because of its position or due to the health of the patient. The pathologist will examine the tissue sample for abnormalities present in the cells. This is known as histologic examination ​2​. The pathologist will also evaluate the tissue sample for signs of cancer. This is called a cytologic examination.
  • Blood tests
    • Alpha-fetoprotein (AFP) – A germ cell tumor may cause high levels of AFP. AFP is a protein that increases in the mother’s blood in pregnancy and has a half-life of 5 to 7 days ​3​. It is produced by the unborn child’s liver and yolk sac, a pouch that protects the embryo early in development. AFP is also a tumor marker in people with certain germ cell tumors, particularly testicular cancer. A tumor marker is a substance found in higher-than-normal amounts in people’s blood, urine, or body with certain kinds of tumors. The levels of AFP in the blood may be measured to monitor disease progress and determine how well the treatment for germ cell tumor is working.
    • Beta HCG – A germ cell tumor may also cause high levels of a hormone called beta-human chorionic gonadotropin (hCG). Pregnancy can lead to high levels of beta hCG in the blood. High beta hCG levels in someone not pregnant could mean that a germ cell tumor is present.

Imaging methods

  • Ultrasound – An ultrasound uses sound waves to create a picture of the internal organs. A tumor produces different echoes of the sound waves than the normal tissue. When the sound waves bounces back to the computer, creating images, the doctor can locate a mass inside the body.
  • Computed tomography (CT or CAT) scan – A CT scan is often the best test to diagnose and monitor a GIST. A CT scan clicks pictures of the body from the inside using x-rays taken from different angles. A computer combines photos into a detailed, 3-dimensional image that shows abnormalities or tumors. A CT scan is to measure the size of the tumor or help doctors determine whether cancer has spread to the gut lining or the liver. Sometimes, a particular dye known as contrast medium is provided before the scan to receive a better-detailed image. This dye can be provided as a pill or liquid to swallow or injected into a patient’s vein.
  • Magnetic resonance imaging (MRI) – An MRI uses magnetic fields, not x-rays, to produce detailed body images. A specific dye known as contrast medium is provided before the scan to create a better picture. This dye can be provided as a pill or liquid to swallow or injected into a patient’s vein.


  1. 1.
    Travis LB, Fosså SD, Schonfeld SJ, et al. Second Cancers Among 40 576 Testicular Cancer Patients: Focus on Long-term Survivors. JNCI: Journal of the National Cancer Institute. Published online September 21, 2005:1354-1365. doi:10.1093/jnci/dji278
  2. 2.
    Stevenson SM, Lowrance WT. Epidemiology and Diagnosis of Testis Cancer. Urologic Clinics of North America. Published online August 2015:269-275. doi:10.1016/j.ucl.2015.04.001
  3. 3.
    Henrique R, Jerónimo C. Testicular Germ Cell Tumors Go Epigenetics: Will miR-371a-3p Replace Classical Serum Biomarkers? European Urology. Published online February 2017:221-222. doi:10.1016/j.eururo.2016.08.013