Detailed Tumor Data is Improving Care & Giving Families & Physicians Hope
By Diana Thomas, M.D., Ph.D
Neuropathologist and Director of Pathology Operations at the Biopathology Center (BPC), Nationwide Children’s Hospital
The BPC team celebrates the milestone of 1,000 MCI cases shipped.
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In 2022, the Children’s Oncology Group launched the Molecular Characterization Initiative. Diana Thomas, MD, PhD, who co-leads the project, explains molecular characterization testing, and how the research is already offering breakthroughs into how tumors are classified, leading to more individualized treatment plans.
I’m a neuropathologist who works in a lab and doesn't see patients in the clinic. But I think of every single child treated at the more than 220 pediatric cancer centers that make up the Children’s Oncology Group (COG) as my patients.
I’m based at the Biopathology Center (BPC) at Nationwide Children’s Hospital, which is home to COG’s biorepository, known as Project:EveryChild. |
This is where all the blood and tumor samples come from every child who participates in a COG clinical trial. My team processes and stores the samples for further testing to give doctors critical information about their patient’s cancer. The sample data we collect also gives researchers information they need for their studies.
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In the Spring of 2022, my team received the first package of samples for an exciting new project called the Molecular Characterization Initiative (MCI). It marked the start of a future where pediatric oncologists treating patients at any COG-affiliated hospital will have a holistic understanding of their patient’s biology and the cancer they’re up against. For families, this breadth of knowledge offers hope that their child’s treatment plan will be tailored to their individual needs. For researchers, MCI represents an unprecedented resource for cancer research.
Creating a clearer picture of pediatric cancer For decades, pediatric oncologists and researchers have been on a mission to understand why two children with the same diagnosis and treatment plan have different outcomes. While one family gets to breathe a sigh of relief that their child’s treatment has successfully eliminated their cancer, the other is preparing to say goodbye. |
Dr. Diana Thomas
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Part of the team working on the MCI at the Biopathology Center at Nationwide Children's Hospital.
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While dozens of tests offer insights into specific aspects of a tumor and knowledge about how to treat it, those one-off results often do not offer us the whole picture. Many scientists knew the best solution had to do with both a person's genetics and the actual genetics of the tumor, but this testing had not yet been universally available. That was the motivation for COG to develop MCI, in partnership with the National Cancer Institute (NCI) and their Childhood Cancer Data Initiative (CCDI).
Now, two years after opening the project, we are on our way to filling in a more complete picture of cancer. With that clarity, we will be able to revolutionize the accuracy of each child’s diagnosis as well as the precision we’re able to treat their cancer. We also have a new and incredibly rich resource for cancer research. |
Rapid results identify dozens of types of central nervous system tumors
We first opened MCI to patients with central nervous system (CNS) tumors. These are cancers that start in the brain or spinal cord.
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In preparing to open MCI, a large team of scientists and physicians came together to ensure that the project would get as much critical information as possible to help us better treat patients today and inform even better treatments for future generations of children. One of those people was pediatric oncologist and CNS tumor expert, Sarah Leary, M.D., at Seattle Children's, who helped design the process of enrolling and long-term tracking of patients.
Elaine Mardis, Ph.D., co-director of the Institute of Genomic Medicine (IGM) and others at IGM set up the testing procedures that each patient’s samples would follow. Through molecular characterization testing, we get a detailed understanding of a patient's DNA and RNA and the genetic drivers of their tumor. The results also identify alterations unique to each patient and often play a role in directing the cancer’s growth or resisting treatments. One of the most exciting things about the testing is that it only takes about a couple of weeks. As soon as genetic data is ready, it’s sent back to each patient’s oncologist and uploaded into our database, where we take special caution to remove any identifiable information about patients. Within a year of launching MCI, more than 1,000 patients with central nervous system tumors and soft tissue sarcomas had participated. As we began reviewing the results, we were overwhelmed (in a good way) with all of the new information we were learning. Among brain tumors, a major success was that instead of 8-10 main types of brain tumors and a few dozen subtypes within those tumors, we have identified 75 unique brain tumor categories allowing for precise diagnosis. And the number is growing. |
Dr. Sarah Leary
Dr. Elaine Mardis
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Patients and their families also receive critical information about germline (inherited) alterations detected by our tests. This information helps signal the potential increased risk within a family for developing various cancers so they can receive appropriate screening.
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Opening MCI to more patients
During those first few months, our team celebrated every series of results we sent back to physicians throughout the COG network across the U.S., Canada, Australia and New Zealand. Each set represented hope for families and confidence for physicians. We even threw a party to recognize the one-year anniversary of MCI and our ability to help patients all over the world. This success and enthusiasm has propelled COG and CCDI’s determination to expand molecular characterization testing to more pediatric and young adult cancer patients. Within a year, we opened MCI to patients with soft tissue sarcomas, and then to patients with rare tumors. Most recently, high-risk neuroblastoma patients became eligible in January 2024. As of June 2024, more than 3,600 patients have participated in this initiative. Fortunately, pediatric cancer is pretty rare. But that also makes it difficult to study. Thankfully, molecular characterization testing gives us deep insights that help oncologists better diagnose and treat their patients. Like the insights from the central nervous system tumors, we’re expanding our understanding of many pediatric tumors. With each new tumor subcategory we identify, there is new information to be learned and used to develop better treatments. If a treatment doesn’t exist, this is where COG researchers can direct their focus on developing new therapies. |
Giving Children in Smaller, Rural Areas Access to the Latest Cancer Tests Twenty-four years ago, doctors and researchers came together to form the Children’s Oncology Group. One of the driving motivations was to make access to the latest clinical trials and treatments available to every patient, no matter where they received their care. “About half the patients participating in MCI are being treated at big centers like Seattle Children’s, where I’m based, while the other half is at dozens of smaller centers,” Dr. Leary says. “As an oncologist, it’s exceptionally gratifying to be part of ensuring every patient family has access to the highest level of research.” With the launch of the Molecular Characterization Initiative, this commitment becomes even deeper as we learn more about rare tumors and how to treat them. “Not only is this helping patients who are diagnosed today at the individual level, projects like MCI are a perfect reflection of COG’s mission as a whole,” Dr. Leary says. “This research will increase survival rates for future generations of kids.” |
Adam Roan, BPC Receiving & Shipping Specialist holds the first ever package received for the MCI.
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A foundation for research built on generosity As we continue this work, we pursue it with deep gratitude for the entire pediatric cancer community. To the families who have participated in MCI so far and those who will in the future, I thank you for your trust and for being part of improving outcomes for future generations of patients. To the donors who give to the COG Foundation, your unwavering support has been crucial in enabling us to build Project:EveryChild, providing the infrastructure needed to pursue tumor tissue banking and molecular characterization. Today and every day of the year, your gifts are helping patients in real time. Most importantly, your gifts are helping us acknowledge that every child’s cancer is unique – just like they are. My hope for the future is that MCI marks a milestone in pediatric cancer history. Every one of your gifts to the COG Foundation has played a role in helping us get to this point. Thank you most of all for the support you give to the kids and families affected by pediatric cancer. |
Project:EveryChild is the central biobank where all blood, tissue and tumor samples are analyzed and banked for clinical trials across the 224 COG member hospitals. Gifts made to the COG Foundation are one of the primary funding sources for Project:EveryChild and significantly increase our ability to study pediatric cancer at every level. Learn more about how to support pediatric cancer research through the COG Foundation.