Faculty Spotlight: Researching Pediatric Cancer Disposition With Suzanne MacFarland, MD

Editor’s Note: Meet the diverse, dedicated, and distinctive faculty who are discovering and developing pediatric life-changing solutions at Children’s Hospital of Philadelphia Research Institute, in our monthly Faculty Spotlight series. This year, we’re celebrating our internal grant recipients who are pursuing new avenues of research with this dedicated funding support. Although we cannot feature all the award recipients in this series, we congratulate their continued hard work and scientific contributions to pediatric research. In this Q&A, we meet Suzanne MacFarland, MD, recipient of the Omics Maximizing Grant Opportunity. Dr. MacFarland came to CHOP in 2011 as a pediatric resident before staying on for a fellowship in hematology and oncology. She joined the faculty in 2017. Stay tuned for more from our Faculty Spotlight series throughout the year.

Can you tell us a little about your research specialty?

My research is in the field of pediatric cancer predisposition. I try to understand why children develop cancers and how to best detect cancer at an early stage in these patients. I work mainly with two populations: those with gastrointestinal polyposis in childhood, and those with Li-Fraumeni Syndrome.

Why did you choose to focus on that specialty?

As a pediatric oncologist, it’s difficult to answer, “Why did this happen?” when a child develops cancer because we usually don’t know why a cancer developed in the first place. Through clinical work and research in cancer predisposition, we help some patients and their families understand why a cancer might have developed and identify future risks for that child and other family members. While we may not yet be able to prevent cancer, we can hope that cancer screening protocols will help us to detect malignancy at an earlier, more treatable stage.

What is a new avenue of research you’re able to explore as result of the Omics Maximizing Grant Opportunity?

The OMG Opportunity allowed me to explore a new avenue of research for patients with juvenile polyposis syndrome (JPS). Patients who develop juvenile-type polyps in childhood have an increased risk of gastrointestinal cancer later in life. Most patients with JPS do not have a causative germline mutation causing their risk of polyposis and cancer, and through prior research, we have shown that they have a distinct clinical phenotype, with earlier onset polyposis and lower family history of disease.

A causative germline variant has not been discovered despite extensive sequencing projects in large cohorts of patients. We suspect that genetic changes within the colon itself – or somatic mosaicism – may be responsible for this polyp risk. Through the OMG Opportunity, we have been conducting dedicated sequencing of blood, colon, and polyp samples to evaluate for somatic mosaicism as a cause of juvenile polyps.

Can you tell us about current research projects that you are excited about?

I am very excited about the possibility of uncovering a genetic cause of JPS through this sequencing project so we can potentially provide answers to these children and their parents. My hope is that understanding the genetic cause could help us to better understand how to treat – and prevent – polyposis in these patients. I am also excited about other ongoing research projects in early cancer detection for other cancer predisposition syndromes, such as Li-Fraumeni Syndrome.

What are the long-term research questions you hope to answer?

I hope that through ongoing cancer predisposition research, we can someday not only screen patients for cancer and detect it at its earliest stages, but also prevent cancer from developing in the first place.