Researchers at the International Society for Pediatric Oncology frequently encounter specimens of choroid plexus tumors (CPT) and have carried out studies into their molecular characteristics, such as methylation profiling. Methylation occurs when methyl groups, additional molecules, are added to DNA molecules. Methylation can change the activity of a DNA segment without changing the sequence. Methylation profiling has shown CPT having three distinct subgroups, but the mutations related to these subgroups is not fully understood. Without understanding the mutational drivers of CPT, there is a chance that opportunities for better diagnostics and new therapies could be missed. That is why researchers seek to identify mutational drivers in CPT such as fusion transcripts. Data from rare, high quality specimens catalogued in the Pediatric Brain Tumor Atlas will be utilized by researchers for this work.
What are the goals of this project?
Researchers will work to identify the genetic drivers of various CPT subtypes.
What is the impact of this project?
Understanding the drivers of CPT will open the door for further work to be done in the development of better diagnostics and targeted therapies for CPT across subtypes.
Why is the CBTN request important to this project?
Fresh-frozen material suitable for deep RNA and DNA sequencing is sparse, but the Pediatric Brain Tumor Atlas has the data from choroid plexus papilloma and choroid plexus carcinoma needed to complete this work.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.
Choroid Plexus Papilloma
Choroid plexus tumors are primary central nervous system (CNS) tumors. This means they begin in the brain or spinal cord.Choroid plexus papillomas are grouped in two grades based on their characteristics.Grade I choroid plexus papilloma are low grade tumors. This means the tumor cells grow slowly.Gr
Choroid Plexus Carcinoma
Choroid plexus tumors (Grade III) occur in both children and adults, but are more common in children in the first year of life. Choroid plexus tumors occur slightly more often in females than males.The cause of most choroid plexus tumors is not known. Genetic changes have been linked to the formatio