Last year’s proposal: we proposed to assess the genomic landscape of children and adults with pineoblastoma and primitive neuroectodermal tumors in general to build on data that have recently been published (Snuderl et al, 2018, Hwang et al, 2018) to demonstrate the unique biological characteristics of these tumors that may help us to improve our treatments and lead to better outcome and survival for young children with these tumors:
1. Conduct whole genome, whole exome, RNA sequencing and methylation profiling of available tumors here at CCHMC and our collaborators at others centers to build on our growing knowledge and understanding of these tumors
2. To develop an international feasibility study with novel agents and approaches for children with pineoblastomas and embryonal tumors in general through the CONNECT Consortium, a 19-member international consortium with sites in the US, Canada, Australia, England, Germany and the Netherlands.
Update on our achievements: In a collaboration led by Dr. Annie Huang at the Hospital for Sick Children in Toronto we recently published data on tumor and clinical findings with all our patients with ETMRs, an infant brain tumor which includes pineoblastomas in July 2019 in Cancer Cell entitled: A C19MC-LIN28A-MYCN Oncogenic Circuit Driven by Hijacked Super-enhancers Is a Distinct Therapeutic Vulnerability in ETMRs: A Lethal Brain Tumor. Sin-Chan P1, ……1, Fouladi M6, …….., Huang A42.
We have also just submitted a large series of patients with pineoblastomas for publication again in a collaboration with Dr. Annie Huang.
Together with Drs. Sarah Leary and Annie Huang we intend to conduct an international study through the CONNECT consortium for patients with PNET/pineoblastomas/ETMR through the CONNECT consortium in the next year.
Funds from Jaxsen’s Journey will be critical to support this clinical trial.
Here is the summary of the proposed study that we h