Abstract
Purpose
Pediatric solid tumors are significantly different from adult tumors. Studies have revealed genomic aberrations in pediatric solid tumors, but these analyses were based on Western populations. Currently, it is not known to what extent the existing genomic findings represent differences in ethnic backgrounds.
Experimental
Design
We retrospectively analyzed the basic clinical characteristics of the patients, including age, cancer type, and sex distribution, and further analyzed the somatic and germline mutations of cancer-related genes in a Chinese pediatric cohort. In addition, we investigated the clinical significance of genomic mutations on therapeutic, prognostic, diagnostic, and preventive actions.
Results
Our study enrolled 318 pediatric patients, including 234 patients with CNS tumors and 84 patients with non-CNS tumors. Somatic mutation analysis showed that there were significant differences in mutation types between CNS tumors and non-CNS tumors. P/LP germline variants were identified in 8.49% of patients. In total, 42.8% patients prompted diagnostic, 37.7% patients prompted prognostic, 58.2% patients prompted therapeutic, and 8.5% patients prompted tumor-predisposing and preventive, and we found that genomic findings might improve clinical management.
Conclusions
Our study is the first large-scale study to analyze the landscape of genetic mutations in pediatric patients with solid tumors in China. Genomic findings in CNS and non-CNS solid pediatric tumors provide evidence for the clinical classification and individualized treatment of pediatric tumors, and they will facilitate improvement of clinical management. Data presented in this study should serve as a reference to guide the future design of clinical trials.
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Data availability
The datasets generated during and/or analyzed during the present study are available from the corresponding author on reasonable request.
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Acknowledgements
The authors would like to thank all patients and their families who participated in this study. The authors would also like to thank Mr. Chuang Qi, Mr. Wanglong Deng, Mr. Chao Song, and Mr. Fanfeng Bu from Simceredx for the kindly assistance.
Funding
This work was supported by the National Natural Science Foundation of China [Grant Nos. 81874083; 82072776], Taishan Pandeng Scholar Program of Shandong Province [Grant No. tspd20210322], Natural Science Foundation of Shandong Province of China [Grant No. ZR2021LSW025], Key Clinical Research Project of Clinical Research Center of Shandong University [Grant No. 2020SDUCRCA011], and Jinan Science and Technology Bureau of Shandong Province [Grant No. 2021GXRC029].
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JG, BH, and GL planed the study, analyzed data and interpreted the results. JG, LD, CW, and NL wrote the manuscript. NL, TH, XZ, and ML participated in data analysis. TS, CQ, RD, BH, and GL contributed the manuscript revision and editing. All authors contributed to the article and approved the submitted version.
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The study was approved by the Ethics Committee of Qilu Hospital of Shandong University.
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432_2023_4756_MOESM2_ESM.tif
Supplementary file2 Schematic representation of the protein domain structure of the most common BRAF fusion in CNS tumors and the most common EWSR1 fusion in non-CNS solid tumors. The number of fusion events is displayed on the far right (TIF 1487 KB)
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Gong, J., Dong, L., Wang, C. et al. Molecular genomic landscape of pediatric solid tumors in Chinese patients: implications for clinical significance. J Cancer Res Clin Oncol 149, 8791–8802 (2023). https://doi.org/10.1007/s00432-023-04756-5
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DOI: https://doi.org/10.1007/s00432-023-04756-5