Detecting driver mutations of central nervous system germ cell tumors



Embryonal Carcinoma

Yolk sac tumor

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CBTN Data Used

About this


Intracranial germ cell tumor is a very dangerous pediatric cancer but lacking sufficient study. Although previous research have revealed some key mechanism (KIT/AKT & RAS/MAPK pathway mutation) of this cancer, there are still a lot of cases can not be covered by current exist theory. In this project, we aim to figure out the pathogenic mechanism of those unexplained cases, and try to differentiate the molecular mechanism difference between germinoma and teratoma.

In our previous literature investigation, we found that around 60% of germinoma cases can be explained by KIT/AKT or RAS/MAPK pathway alteration. However, only about 25% of non-germinomatous germ cell tumor were found to occur via this two pathway. The majority pathogenic mechanism of non-germinomatous germ cell tumor is still unclear. Recent years, with the development of next generation sequencing technology, we are able to detect the alterations on DNA level especially on the noncoding region. By comparing the tumor DNA with paired normal tissue DNA, we will be able to find recurrent genome structural variations, copy number variations, single nucleotide variation, short fragment insertion and deletions etc. In addition, we will use our in-house developed computational tools such as SAVI & CELLO to predict potential cancer driver candidates from all the found alterations in previous step. Correspondingly, for those driver like mutations, we will design cell line experiments and animal experiments to verify the potential disease mechanism.

Ask The


Ask the scientists

What are the goals of this project?

We will use the aligned bam files of tumor and normal tissue to find the genome alterations and use proper analysis algorithm to find potential cancer driver mutations.

What is the impact of this project?

For those experimental validated cancer related pathway alteration, we hope to find some key proteins as new drug targets and provide extra treatment possibility for this cancer.

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