Research seeks to understand Appalachia’s childhood cancer disparity

University of Kentucky

When Eric Durbin Dr.PH., director of the Cancer Research Informatics Shared Resource Facility at the University of Kentucky Markey Cancer Center, began mapping childhood cancer incidence rates, he noticed a troubling trend: Brain cancer rates appeared to be higher in the Appalachian region of Kentucky. That led Durbin, who is also the director of the Kentucky Cancer Registry, to conduct a broader study that looked at all childhood brain cancers across the U.S. The goal of this study was to see if there were differences between Appalachian children and children outside Appalachia.

The most alarming disparity he and a team of UK Markey Cancer Center investigators found was that the rate of low-grade astrocytomas – the most common type of brain tumor – was 41% higher among Appalachian children than other children in the U.S. from 2004 to 2011. Nationally, brain tumors have become the leading cause of childhood death related to disease.

Additional research receives funding

Durbin and his team then received a grant from the Kentucky Pediatric Cancer Research Trust Fund. The first study they conducted looked at the role of environmental exposures. The team compared childhood cancer incidence rates in Kentucky with Superfund sites and other known toxic emission sites. So far, they have found no correlation to known industrial or environmental exposures.

Another aspect of this study is examining the incidence of brain tumors within Kentucky. The team was able to identify a number of regions within the state that had higher rates, including a cluster in the north-central area of the state, but not exclusive to the Appalachian region. That prompted the team to hypothesize what could be causing this, such as household pesticide use or other possible exposures.

Durbin’s team also wanted to take a look at the genomic makeup of these tumors to see if there were patterns or differences in Kentucky children compared with children in other parts of the country. The team utilized a unique resource available from the Kentucky Cancer Registry called the Virtual Tissue Repository. Leveraging the infrastructure developed by the cancer registry, they reached out to 14 pathology labs to have residual tumor specimens shipped to them. The team obtained 258 samples, with the Children’s Hospital of Philadelphia agreeing to perform next-generation sequencing.

“We’re still analyzing these data, but preliminary results suggest there are indeed patterns of genomic mutations that are unique to our population,” Durbin said.

The next study – a germline study – builds on Durbin’s prior research and fills in the gaps from the previous studies. For this study, the team is reaching out to childhood brain cancer survivors and families in Kentucky, some of whom are adults now. Participants consent to provide a saliva sample and answer an extensive survey that addresses potential environmental and lifestyle factors. This study is currently underway, and the team is still recruiting participants. Over 80% of the families they have reached out to have agreed to participate.

“This represents a very high recruitment rate compared to historical research studies,” Durbin said. “This demonstrates how important this research is to survivors and their families in Kentucky.”

More collaboration in the future

All of this research is reaping additional benefits for Markey Cancer Center, including funding from the National Cancer Institute to contribute data to the National Childhood Cancer Registry, but the work is far from over.

Collaboration will continue to be key to future research into pediatric brain tumors. That’s because one of the limitations of this type of research is that the number of cases is so small.

“It occurred to us – wouldn’t it be wonderful to pull together a consortium of childhood treatment facilities in the Appalachian region where we’ve already identified high rates of childhood cancer?” Durbin said.

That idea helped launch a third collaborative project that was funded in 2022, called the Appalachian and Inner-city Pediatric, Adolescent, and Young Adult Cancer Data Ecosystem (ACCELERATE) Consortium. Markey is already working with Norton Children’s Hospital, the University of Louisville, West Virginia University, and the Children’s Hospital of Philadelphia and plans to reach out to Vanderbilt, Cincinnati Children’s Hospital and other facilities in Ohio.

Together, they will be able to study a larger set of clinical genomic data and – hopefully – make more groundbreaking discoveries in the field of pediatric, adolescent and young adult cancer.

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