Molecular profiling of 888 pediatric tumors informs future precision trials and data-sharing initiatives in pediatric cancer

To inform clinical trial design and real-world precision medicine practice, we classified diagnoses, assessed the landscape of mutations, and identified genomic variants matching trials in a large unselected institutional cohort of solid tumors patients sequenced at Dana-Farber / Boston Children's Cancer and Blood Disorders Center. Tumors were sequenced with OncoPanel, a targeted next-generation DNA sequencing panel. Diagnoses were classified according to the International Classification of Diseases for Oncology (ICD-O-3.2). Over 6.5 years, 888 pediatric cancer patients with 95 distinct diagnoses had successful tumor sequencing. Overall, 33% (n=289/888) of patients had at least 1 variant matching a precision oncology trial protocol, and 14% (41/289) were treated with molecularly targeted therapy. This study highlights opportunities to use genomic data from hospital-based sequencing performed either for research or clinical care to inform ongoing and future precision oncology clinical trials. Furthermore, the study results emphasize the importance of data sharing to define the genomic landscape and targeted treatment opportunities for the large group of rare pediatric cancers we encountered in clinical practice.

Suzanne J. Forrest, Hersh Gupta, Abigail Ward, Yvonne Y. Li, Duong Doan, Alyaa Al-Ibraheem, Sanda Alexandrescu, Pratiti Bandopadhyay, Suzanne Shunstern, Elizabeth A. Mullen, Natalie B. Collins, Susan N. Chai, Karen D. Wright, Priti Kumari, Tali Mazor, Keith L. Ligon, Priyanka Shivdasani, Monica Manam, Laura E. MacConaill, Evelina Ceac, Sidney N. Benich, Wendy B. London, Richard L. Schilsky, Suanna S. Bruinooge, Jaime M. Guidry Auvil, Ethan Cerami, Barrett J. Rollins, Matthew L. Meyerson, Neal I. Lindeman, Bruce E. Johnson, Andrew D. Cherniack, Alanna J. Church, Katherine A. Janeway