Detecting Driver Mutations of Central Nervous System Germ Cell Tumors



Embryonal Carcinoma

Yolk sac tumor

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About this


An intracranial germ cell tumor (germinoma) is a pediatric cancer. There is a great need to fill the gap in knowledge about the mechanisms that drive germinoma growth. Previous research has revealed some key mechanisms of this cancer, such as KIT/AKT & RAS/MAPK pathway mutations, which promote tumor growth, but there are still many cases that are not explained through these mechanisms. In this project, researchers aim to figure out the mechanism of those unexplained cases. In recent years, with the development of next generation sequencing technology, researchers have been able to detect the alterations on DNA level, especially on noncoding regions. Researchers will use their in-house developed computational tools SAVI & CELLO to predict potential cancer driver candidates from alterations identified in previous steps of analysis, using data provided through the Pediatric Brain Tumor Atlas. For these found mutations, cell line experiments and animal experiments will be developed to verify the potential disease mechanism. Researchers also seek to explore the connection between germinomas and teratomas. This research could lead to the advanced diagnosis of and development of targeted therapies for pediatric brain cancer patients with germinoma.

Ask The


Ask the scientists

What are the goals of this project?

There are many cases of pediatric germinoma whose mechanisms remain unexplained, and this project seeks to use their in-house developed computational tools to investigate these cases.

What is the impact of this project?

If researchers can identify possible disease mechanisms for unexplained cases of germinoma, it could create opportunities for new therapeutic options.

Why is the CBTN request important to this project?

The Pediatric Brain Tumor Atlas provides researchers with rare data on pediatric germinoma necessary to complete this work.

Specimen Data

The Children's Brain Tumor Tissue Consortium contributed to this project by providing access to the Pediatric Brain Tumor Atlas.

Explore the data in these informatics portals