Project to develop a nation-wide genomic diagnostic platform and long-term survivorship support for patients with childhood, adolescent and young adult cancer

Abstract

To establish a nationwide genomic diagnosis platform

Cancers in children, and adolescent and young adults (AYAs) consist of various rare cancers, and a substantial number of genetic mutations are known to be associated with diagnosis and prognosis. It is expected that genomic testing will improve diagnosis, risk classification, therapeutics, and the outcome of treatment for patients with childhood and AYA cancer.

However, the gene panel tests currently reimbursed by the national insurance system do not sufficiently include genetic mutations specific for childhood and AYA cancers. There is a need to develop a gene panel test suitable for patients with childhood and AYA cancer.

In Japan, the researchers in this study are developing the New "Todai OncoPanel" test (TOP2), which contains a comprehensive set of genes relevant for diagnosis, risk classification, and treatment of childhood and AYA cancer. We will evaluate the efficacy of this panel test and establish a nationwide genomic diagnosis platform for children and AYAs.

Long-term survivorship support

Thanks to the development of new therapeutics, the number of pediatric cancer survivors is increasing. On the other hand, it is estimated that about 10% of the survivors suffer from serious health problems due to late complications after treatment. Elucidating the pathogenesis of late complications, and coordinating the standard of care is important.

To improve the long-term survivorship of patients with childhood and AYA cancers, a multidisciplinary approach is necessary. Therefore, various experts from six national centers will collaborate to solve the issues for childhood and AYA cancer survivors.

Perspectives

Through the cross-sectional collaboration with the experts from six national centers, we will establish a nation-wide platform of precision medicine for patients with childhood and AYA cancers. Furthermore, our team will also contribute to long-term survivorship support for cancer patients and survivors of this generation.

Comments from principal researcher

Childhood and AYA cancers are also known as rare cancers due to the small number of patients. This makes research and development of diagnostic methods and therapeutic agents difficult. We hope to use precision medicine to accurately diagnose and predict the prognosis of these cancers, and to find new therapeutic targets so that we can deliver better treatment to patients. In addition, we will work together to shed light on late complications, and to improve survivorship with a better prospect of post-treatment life.