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

Suzanne J. Forrest (), Hersh Gupta, Abigail Ward, Yvonne Y. Li, Duong Doan, Alyaa Al-Ibraheemi, Sanda Alexandrescu, Pratiti Bandopadhayay, Suzanne Shusterman, Elizabeth A. Mullen, Natalie B. Collins, Susan N. Chi, Karen D. Wright, Priti Kumari, Tali Mazor, Keith L. Ligon, Priyanka Shivdasani, Monica Manam, Laura E. MacConaill, Evelina Ceca, 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 and Katherine A. Janeway ()
Additional contact information
Suzanne J. Forrest: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Hersh Gupta: Dana-Farber Cancer Institute
Abigail Ward: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Yvonne Y. Li: Dana-Farber Cancer Institute
Duong Doan: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Alyaa Al-Ibraheemi: Harvard Medical School
Sanda Alexandrescu: Harvard Medical School
Pratiti Bandopadhayay: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Suzanne Shusterman: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Elizabeth A. Mullen: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Natalie B. Collins: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Susan N. Chi: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Karen D. Wright: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Priti Kumari: Dana-Farber Cancer Institute
Tali Mazor: Dana-Farber Cancer Institute
Keith L. Ligon: Harvard Medical School
Priyanka Shivdasani: Brigham and Women’s Hospital
Monica Manam: Boston Children’s Hospital
Laura E. MacConaill: Brigham and Women’s Hospital
Evelina Ceca: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Sidney N. Benich: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Wendy B. London: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center
Richard L. Schilsky: American Society of Clinical Oncology
Suanna S. Bruinooge: American Society of Clinical Oncology
Jaime M. Guidry Auvil: National Cancer Institute
Ethan Cerami: Dana-Farber Cancer Institute
Barrett J. Rollins: Harvard Medical School
Matthew L. Meyerson: Harvard Medical School
Neal I. Lindeman: Weill Cornell Medical College
Bruce E. Johnson: Harvard Medical School
Andrew D. Cherniack: Dana-Farber Cancer Institute
Alanna J. Church: Harvard Medical School
Katherine A. Janeway: Dana-Farber/Boston Children’s Cancer and Blood Disorders Center

Nature Communications, 2024, vol. 15, issue 1, 1-11

Abstract: Abstract To inform clinical trial design and real-world precision pediatric oncology 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 encounter in clinical practice.

Date: 2024
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DOI: 10.1038/s41467-024-49944-0

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