Driving Standardization of Molecular Testing Guidelines in Pediatric Cancer
Advancements in our understanding of the genetic drivers of cancer and the use of precision oncology have provided new insight into cancer risk and recurrence, patient outcomes, and drug response. In the last 50 years, the five-year survival rate for all childhood cancers combined has improved from 58% to 85% (1). Despite this, cancer is the leading cause of disease-related death among children in the United States, with an estimated 9,550 new diagnoses in 2025 (1). While hematologic cancers, such as leukemia and lymphoma, as well as cancers of the brain and spinal cord, are among the most common types of childhood cancers, pediatric solid tumors that occur in bone, soft tissue and other organs account for 40% of childhood cancer (2). The use of molecular tumor profiling techniques such as next-generation sequencing and targeted therapies has contributed to improved patient outcomes and survival rates in the last few decades. However, clinical guidelines and recommendations for use of molecular diagnostic assays in pediatric patients are variable among treatment centers across the United States, creating disparity in the treatment of childhood cancer (3).
Dr. Alanna Church, a molecular pathologist at Boston Children’s Hospital (BCH), co-founded the BCH Laboratory for Molecular Pediatric Pathology (LaMPP) in 2016 to develop innovative molecular diagnostic assays to support the treatment of pediatric solid tumors. Now, Dr. Church is the Associate Director for BCH LaMPP, Assistant Professor of Pathology and Program Director of the Molecular Genetic Pathology Fellowship at Harvard Medical School, and Associate Member of the Broad Institute of MIT and Harvard. With an extensive list of publications, awards and contributions to science, Dr. Church has her eyes set on becoming “a leader in the clinical implementation of molecular testing for children with cancer.” With the help of funding from the 2023 AACR-St. Baldrick’s Foundation Pediatric Cancer Research Grant, she is actively leading a working group of experts including pediatric oncologists, pathologists, and geneticists that are “dedicated to improving care for children with cancer by developing guidelines for when and how tumor tissue sequencing should be used.”
“Molecular testing can identify genetic alterations that improve diagnosis and treatment options, and our goal is to ensure every child has access to this technology.” With the support of the 2023 AACR-St. Baldrick’s Foundation Pediatric Cancer Research Grant, Dr. Church is spearheading a collaborative effort to integrate molecular diagnostics and genetic research into clinical pediatric pathology by establishing standard guidelines for molecular testing in pediatric cancers—something that she said, “wouldn’t have been possible through traditional funding routes.”
When asked about what inspired her to focus on pediatric cancer research, Dr. Church said that her “fascination with genetics was the starting point. During my training, I came to understand the critical role genetics plays in cancer development. This realization opened my eyes to the transformative potential of molecular testing, especially for children with cancer. Being able to advocate for and support these children through this research is a profound privilege.”
Dr. Church shared that her AACR grant “has been instrumental in bringing together experts from across the United States and Canada” to form the SPROUT (Somatic Profiling for Pediatric Cancer, Refining Our Understanding and Treatment) working group. Further, she shared that “this grant has opened incredible opportunities for me. Leading the working group and contributing to a manuscript on our findings have been major career milestones. Additionally, being a grant recipient has allowed me to present at AACR meetings, network with fellow researchers, and participate in awardee learning events. These experiences have been invaluable in advancing my career and expanding my professional network.”
Through the support of the AACR grant, at least in part, clinical implementation of specific standard-of-care guidelines for molecular tumor profiling in pediatrics “will help ensure that every child with cancer receives the right molecular test at the right time, regardless of whether they are treated at a major cancer center or a smaller facility. These standards will promote equity by increasing access to testing and addressing barriers like financial constraints or geographic location. Ultimately, this approach will lead to more accurate diagnoses and better treatment options for all children with cancer.”
Since 1993, the AACR grants program has contributed to the development of new and improved approaches to cancer treatment and care. When asked about her vision for the future of pediatric cancer treatment, Dr. Church said that she envisions a future where “pediatric cancer treatment is not only highly effective but also supports the holistic recovery of each child. This means focusing on minimizing side effects and long-term complications, so children can thrive beyond their cancer journey. The needs of children and their families are unique, and addressing their physical, emotional, and developmental well-being is crucial. Pediatric cancers often have distinct genetic profiles that require tailored testing and treatments, and I hope to see more resources dedicated to advancing these approaches. Ultimately, we must do everything possible to ensure that children not only survive cancer but also lead full, healthy, and vibrant lives afterward.”
References:
- Siegel RL, Kratzer TB, Giaquinto AN, Sung H, Jemal A. Cancer statistics, 2025. CA Cancer J Clin. 2025; 75(1): 10-45. doi:10.3322/caac.21871
- Slack JC, Church AJ. Molecular Alterations in Pediatric Solid Tumors. Clin Lab Med. 2024;44(2):277-304. doi: 10.1016/j.cll.2023.08.012
- Church AJ, Corson LB, Kao PC, Imamovic-Tuco A, Reidy D, Doan D, et al. Molecular profiling identifies targeted therapy opportunities in pediatric solid cancer. Nat Med. 2022 Jun 23;28(8):1581–1589. doi: 10.1038/s41591-022-01856-6