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

Sep 21, 2026

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Molecular profiling of 888 pediatric solid tumors supports the design of future precision oncology trials and highlights practical opportunities for genomic data sharing. Diagnoses were classified using ICD-O-3.2 and tumors were sequenced with the OncoPanel targeted next-generation DNA sequencing assay. Across 6.5 years, 33% of patients had at least one variant matching a precision oncology trial protocol, and 14% received molecularly targeted therapy, demonstrating translational value from hospital-based sequencing for both research and clinical care.

LanguageEnglish

CategoryHealthcare

FormatPDF

Pages11

Reading Time28 min

AccessFree to download

Results

Patient and sample characteristics: sequenced cases have a long tail of ultra-rare diagnoses

Article [https://doi.org/10.1038/s41467-024-49944-0](https://doi.org/10.1038/s41467-024-49944-0) Molecular proﬁling of 888 pediatric tumors informs future precision trials and datasharing initiatives in pediatric cancer Received: 28 October 2023 | Accepted: 18 June 2024 | | --- | | | | Check for updates | Suzanne J. Forrest 1,2 , Hersh Gupta3,4, Abigail Ward1, Yvonne Y. Li 3,4, Duong Doan1, Alyaa Al-Ibraheemi2,5, Sanda Alexandrescu2,5, Pratiti Bandopadhayay 1,2, Suzanne Shusterman1,2, Elizabeth A. Mullen 1,2, Natalie B. Collins 1,2, Susan N. Chi1,2, Karen D. Wright1,2, Priti Kumari3, Tali Mazor 3, Keith L. Ligon 2,3,5,6, Priyanka Shivdasani6, Monica Manam5, Laura E. MacConaill6, Evelina Ceca1, Sidney N. Benich1, Wendy B. London 1, Richard L. Schilsky 7, Suanna S. Bruinooge 7, Jaime M. Guidry Auvil8, Ethan Cerami3, Barrett J. Rollins2,3,6, Matthew L. Meyerson 2,3,4, Neal I. Lindeman9, Bruce E. Johnson2,3,6, Andrew D. Cherniack 3,4, Alanna J. Church 2,5 & Katherine A. Janeway 1,2 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 ofdata sharing to deﬁne the genomic landscape and targeted treatment opportunities for the large group of rare pediatric cancers we encounter in clinical practice. Over the last 50 years, there has been a profound prolongation in the survival of children and adolescents with cancer, primarily achieved through the intensiﬁcation of chemotherapy, risk stratiﬁcation, and multi-modal treatments1,2. Despite these advances, cancer remains the leading cause of death by disease among children in the United States, and many survivors of childhood cancers have signiﬁcant long-term sequelae from their treatment3–6. Furthermore, progress has not been universal, and a number of speciﬁc cancer diagnoses have seen little improvement in outcomes and continue to have a disproportionate burden of treatment-related side effects. Speciﬁc groups with lagging 1Dana-Farber/Boston Children’s Cancer and Blood Disorders Center, Boston, MA, USA. 2Harvard Medical School, Boston, MA, USA. 3Dana-Farber Cancer Institute, Boston, MA, USA. 4Broad Institute of MIT and Harvard, Cambridge, MA, USA. 5Boston Children’s Hospital, Boston, MA, USA. 6Brigham and Women’s Hospital, Boston, MA, USA. 7American Society of Clinical Oncology, Alexandria, VA, USA. 8National Cancer Institute, Bethesda, MD, USA. 9Weill Cornell Medical College, New York, NY, USA. e-mail: [Suzanne_Forrest@dfci.harvard.edu](Suzanne_Forrest@dfci.harvard.edu); [Katherine_Janeway@dfci.harvard.edu](Katherine_Janeway@dfci.harvard.edu) Fig. 1 | CONSORT diagram of analytic cohort. Flow chart illustrating derivation of the ﬁnal study cohort. improvement in outcomes include pediatric, adolescent, and young adult (AYA) brain tumors and sarcomas1. One of the major drivers of improved outcomes and decreased toxicity of therapy is the application of precision oncology, carried out by cancer type-speciﬁc characterization of the genome paired with molecularly tar

FAQs

How were pediatric tumor diagnoses classified in the study?

Diagnoses were classified according to the International Classification of Diseases for Oncology (ICD-O-3.2).

What sequencing method and assay were used for tumor profiling?

Tumors were sequenced using OncoPanel, a targeted next-generation DNA sequencing panel.

What proportion of patients had variants matching precision oncology trial protocols?

Overall, 33% of patients had at least one variant matching a precision oncology trial protocol, and 14% of those were treated with molecularly targeted therapy.

Sep 21, 2026

Upload by Noah