My institution serves as reference neuropathology center for the international choroid plexus tumor registry (CPT-SIOP, International Society of Pediatric Oncology) and we thus frequently encounter CPT tissue samples. Previously, we have shown that methylation profiling of CPT reveals three clinically distinct subgroups (Neuro Oncol. 2016 Jun;18(6):790-6.), but, however, despite frequent copy-number alterations and some CPTs harboring TP53 mutations, no recurrent driver mutations are on record.
What are the goals of this project?
To this end, the aim of our project is to evaluate the occurrence of fusion transcripts in CPT. After performing fusion calling per sample, we will analyze the set intersections of all tools.
What is the impact of this project?
The results are expected to shed light on the pathogenesis of choroid plexus tumors and testing the hypothesis of recurrent fusion transcripts.
Why the CBTN request is important to this project?
High-quality fresh-frozen material suitable for deep RNA and DNA sequencing is sparse. Therefore, we apply for the choroid plexus papilloma and choroid plexus carcinoma datasets from CBTN.
The Children's Brain Tumor Network contributed to this project by providing access to the Pediatric Brain Tumor Atlas.
Choroid Plexus Tumors
Choroid Plexus Carcinoma (Grade III)
Choroid plexus tumors 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 formation