SEP 25, 2025

Novel Biomarkers Revealed in Pediatric Germ Tumors

WRITTEN BY: Brian G. Morreale

Although pediatric cancer is rare, it is the leading cause of death by disease in children, according to the National Institutes of Health (NIH). Over 16,000 children in the United States are currently diagnosed with cancer. Among the types of cancers diagnosed, most are leukemias, brain tumors, lymphomas, and central nervous system (CNS) tumors. However, 3% of all childhood cancers under 15 years old include pediatric germ cell tumors (GCTs). Adolescents 15 – 19 years old have a higher incidence rate of 15%. While the 5-year survival rate is about 90%, it can vary between stage and subtype.

Pediatric germ cell tumors are rapidly proliferating and mutated which originate from immature reproductive cells, including the gonads, tailbone, abdomen, or brain. Symptoms can vary based on origin of disease. However, GCTs are usually accompanied by a lump, swelling pain, and organ dysfunction. Specifically, children will get dramatic hormonal changes such as early puberty and elevated levels of tumor-related-proteins. If the tumor occurs in the brain, the patient may experience headaches, blurry vision, and changes in thirst and urination. Patients are usually diagnosed with imaging and biopsy analysis. Currently, standard-of-care treatment includes a combination of surgery and chemotherapy. Unfortunately, GCTs are made up of diverse cell types that can make it difficult to treat. Therefore, many scientists are working to identify novel biomarkers to detect tumors earlier and develop more robust treatments.

A recent article in Frontiers of Immunology, by Dr. Mariana Tomazini Pinto and others, revealed distinct immune cell patterns in pediatric GCTs that could improve specificity of cancer treatment. Pinto is a researcher and professor at the Molecular Oncology Research Center of the Pio XII-Hospital de Cancer de Barretos (HCB) in Brazil. She has expertise in genetics and molecular biology, investigating biomarkers for pediatric tumors. Her work has been internationally recognized for its progress in pediatric oncology.

Pinto and her team analyzed over 700 genes related to immune cells and their function. They were able to categorize the behavior of different immune cells within GCTs. Researchers used laboratory science and computational analysis to better understand the immune cell environment around GCTs. They identified a distinct immune profile which has helped better characterize various germ cell tumors. One form of GCT that was analyzed included ovarian dysgerminoma, which was found to have an active immune cell population. This indicates that this form of GCT would be responsive to specific immunotherapies such as immune checkpoint inhibitors that activate immune cells around the tumor. In contrast, yolk sac tumors (YSTs) were found to have a suppressive profile that prevented an immune response. This helps physicians determine which treatment is the best option for specific GCTs.

Pinto and her team analyzed various GCTs to better characterize each tumor type. The research reported provides details that differentiate each GCT. As a result, scientists and healthcare providers can predict therapeutic output and improve personalized medicine. Enhanced therapy can also provide longevity and better quality of life. Overall, this has the potential to develop robust therapeutic treatments with more precision and less cytotoxicity.

Article, Frontiers of Immunology, Mariana Tomazini Pinto, HCB