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Genome-Wide 5hmC Profiling of Neuroblastoma Tumors and Patient Cell-Free DNA

University of Chicago
Susan Cohn, MD & Chuan He PhD
Grant Type: 
Innovation Grants
Year Awarded: 
Type of Childhood Cancer: 
Project Description: 

Neuroblastoma, a common pediatric cancer, is remarkable for its broad spectrum of clinical behavior. Although some children are highly curable, nearly half of all patients have clinically aggressive tumors.  Despite intensive therapy, outcome remains poor for children with high-risk neuroblastoma and more effective therapies are desperately needed. To improve survival, we also need predictive, quantifiable measures (biomarkers) that will identify patients who will not respond to standard treatments and may benefit from new treatment approaches. 

Project Goal
Dr. Susan Cohn, an internationally-recognized expert in neuroblastoma, and Dr. Chuan He, a renowned chemist at the University of Chicago, are partnering to evaluate a promising new biomarker, 5-hydroxymethylcytosine (5hmC). Dr. He has recently developed a highly sensitive chemical labeling technology that can be used to evaluate this biomarker in small quantities of DNA found in blood. Preliminary studies show that 5hmC is predictive of response to treatment and outcome in adults with cancer. Although this biomarker has not been studied previously in children with cancer, we hypothesize that 5hmC profiles will serve as robust biomarkers for children with neuroblastoma and that it will be possible to comprehensively profile 5hmC using blood samples. If successful, this study will lead to the discovery of new, powerful biomarkers that can be used to monitor a patient's response to treatment and predict relapse and survival. By identifying children with high-risk neuroblastoma who are likely to relapse with standard treatment, ultimately these biomarkers could be used to individualize treatment and improve survival.