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Whole-genome sequencing

Enhancing childhood cancer targetability

Nature Cancer volume 4, pages 153–155 (2023)Cite this article

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Overall survival for children with rare, relapsed, metastatic and/or refractory cancers has remained unacceptably low over the past four decades. A new precision oncology study introduces an integrative germline and somatic sequencing approach that could breach this impasse to advance cures for children with cancer.

Advances in pediatric oncology have improved 5-year survival rates from 58% in the mid-1970s to over 85% today, though this has largely been driven by improvements in treatment of thyroid cancer, non-Hodgkin’s lymphoma and leukemias1. We still lack effective therapies for many high-grade central nervous system (CNS) gliomas as well as high-risk, relapsed, metastatic and/or refractory solid tumors2; furthermore, certain tumor diagnoses, such as diffuse intrinsic pontine glioma, remain universally fatal. Therefore, there is an urgent need to identify novel therapeutic strategies for children with diagnoses of incurable cancer. In this issue of Nature Cancer, Villani et al.3 have done exactly that through the SickKids Cancer Sequencing clinical trial program. The authors retrospectively and prospectively analyzed tumor and normal genomes from a total of 348 pediatric or adolescent and young adult patients, spanning a broad distribution of cancer isotypes enriched to include difficult-to-cure tumors3. The goal of the study was to comprehensively and critically interrogate the genome beyond standard clinical sequencing to identify clinically actionable targets and further inform the therapeutic regimen for each patient.

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Fig. 1: Integrative germline and somatic sequencing and data analysis expands the repertoire of clinically actionable targets in pediatric cancer.

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Authors and Affiliations

  1. Center for Data-Driven Discovery in Biomedicine, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Ammar S. Naqvi & Jo Lynne Rokita

  2. Division of Neurosurgery, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Ammar S. Naqvi & Jo Lynne Rokita

  3. Department of Bioinformatics and Health Informatics, Children’s Hospital of Philadelphia, Philadelphia, PA, USA

    Ammar S. Naqvi & Jo Lynne Rokita

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  1. Ammar S. Naqvi
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  2. Jo Lynne Rokita
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Correspondence to Jo Lynne Rokita.

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Naqvi, A.S., Rokita, J.L. Enhancing childhood cancer targetability. Nat Cancer 4, 153–155 (2023). https://doi.org/10.1038/s43018-022-00472-0

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