NCI launches program to offer molecular characterization of childhood cancers

In support of President Biden’s Cancer Moonshot℠ goal of fostering data sharing in cancer research, the National Cancer Institute, part of the National Institutes of Health, has launched the Molecular Characterization Initiative for pediatric tumors. This program offers tumor molecular characterization, also called biomarker testing, to children, adolescents, and young adults with newly diagnosed central nervous system tumors who are being treated at hospitals that are affiliated with the Children’s Oncology Group (COG), an NCI-supported clinical trials group that includes more than 200 hospitals and institutions that treat most children diagnosed with cancer in the United States.

The Molecular Characterization Initiative is offered through NCI’s Childhood Cancer Data Initiative, which was launched in 2019 to promote data sharing and collection of new data among researchers who study childhood cancers.

Children, adolescents, and young adults diagnosed with a central nervous system cancer across the United States will be eligible to receive molecular characterization of their tumors free of charge through this voluntary program. DNA and RNA from tumor and blood samples will be analyzed to help make an accurate diagnosis and to understand what is causing or driving the cancer. The Molecular Characterization Initiative will expand later in 2022 to include soft tissue sarcomas and other rare tumors.

“The ultimate dream has really been for every child with cancer to have a state-of-the-art diagnosis and the safest and most effective therapy,” said Brigitte C. Widemann, M.D., special advisor to the NCI director for childhood cancer. “The Molecular Characterization Initiative is a transformative collaboration that will entail participation of the entire community.”

Having a precise diagnosis based on the molecular characteristics of a patient’s tumor can help doctors choose the most effective and potentially least toxic treatment for each child. Data on the molecular changes seen across childhood cancers can also help researchers better understand the molecular causes of childhood cancers and accelerate the development of new, more effective, and potentially less toxic treatments, especially for rare childhood cancers for which treatment options are limited. 

“The game changer for patients is that we're going to understand the patient's disease precisely and comprehensively in a way that we've done piecemeal so far,” said Douglas S. Hawkins, M.D., group chair of COG.

Previously, comprehensive tumor molecular characterization was available to children enrolling in some clinical trials or to those being treated at larger institutions with internal resources to offer such state-of-the-art diagnostics. Data on tumor biomarkers were stored exclusively at the hospital or institution where a child was treated, with limited sharing of data among institutions. The new program will make tumor molecular characterization broadly available for children throughout the country. Moreover, the data collected will be available in a central location so that childhood cancer researchers can learn from the data and use it to inform future studies.

“We can help make molecular characterization available throughout the country so that it will be a standard of care that every child can get,” said Maryam Fouladi, M.D., COG’s central nervous system tumor disease committee leader. “An accurate molecular diagnosis can inform optimal treatment for every child.”

For example, Dr. Fouladi explained, some childhood cancers, such as gliomas, can be misdiagnosed. “We can apply molecular diagnostics to a child diagnosed with a high-grade glioma and find out that it is actually a low-grade glioma or an entirely different tumor, which may need very different treatments and have a very different outcome,” she said. “Molecular diagnostics can really contribute to getting the correct diagnosis, offering the optimal treatment and, ultimately, improving the patient’s outcome.”

In addition to providing detailed information about a cancer to use in making an accurate diagnosis, the data can also be used to determine whether a child is eligible for a clinical trial. Molecular characterization can reveal, for example, whether a child has a specific cancer subtype that is eligible for a clinical trial evaluating a new treatment explicitly designed for that subtype.

Enrollment in the Molecular Characterization Initiative is initially offered through participation in Project:EveryChild, a childhood cancer registry maintained by COG (APEC14B1). Initial participants will include newly diagnosed children, adolescents, and young adults ages 25 years and younger at the time of diagnosis. Young adults over the age of 25 who are being screened for eligibility into a COG clinical trial may also be included.

Tumor and blood samples from participants will be sent to an accredited lab for analysis, and the results will be available to patients and their families within 21 days. The molecular data will also be aggregated into a database available to researchers for future studies, such as those exploring why some tumors become resistant to therapies they initially responded to or what factors increase the risk of treatment-related side effects. Personal information that could be used to identify a participant will be removed before data are put into the database.

Dr. Widemann said the Molecular Characterization Initiative is a program the childhood cancer community can easily get behind. “To be able to apply the best tools to make the most accurate diagnosis so that the most effective treatment can be prescribed, that's a goal that I think physicians and families can all align around,” she said.

About the National Cancer Institute (NCI): NCI leads the National Cancer Program and NIH’s efforts to dramatically reduce the prevalence of cancer and improve the lives of cancer patients and their families, through research into prevention and cancer biology, the development of new interventions, and the training and mentoring of new researchers. For more information about cancer, please visit the NCI website at cancer.gov or call NCI’s contact center, the Cancer Information Service, at 1-800-4-CANCER (1-800-422-6237).

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 Institutes and Centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit nih.gov.