Clinical impact of large genomic explorations at diagnosis in 198 pediatric solid tumors - a monocentric study aiming practical feasibility of precision oncology

Sep 21, 2026

Clinical impact of large genomic explorations at diagnosis in 198 pediatric solid tumors assesses feasibility and therapeutic relevance of systematic diagnostic genomic profiling in children. The study prospectively investigated 280 patients under 22 years with newly diagnosed solid tumors, using multiple molecular tests from single-gene methods to next-generation and RNA sequencing. Among 198 patients profiled at diagnosis, 84% showed overall clinical impact, with actionable variants enabling rapid matched targeted therapy at first relapse for 23% of patients.

LanguageEnglish

CategoryResearch & Report

FormatPDF

Pages18

Reading Time45 min

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Abstract

Introduction

Methods

Results

Conclusion

Keywords

Simon etal. BMC Cancer (2024) 24:1296 [https://doi.org/10.1186/s12885-024-13034-7](https://doi.org/10.1186/s12885-024-13034-7) BMC Cancer RESEARCH Open Access Clinical impact of large genomic explorations at diagnosis in 198 pediatric solid tumors: a monocentric study aiming practical feasibility of precision oncology Juliette Simon1, Damien Reita2,3, Eric Guerin2,3, Benoit Lhermitte3,4,5, Noelle Weingertner4, François Lefebvre6, Marie Karanian7, Julien Masliah-Planchon8, Veronique Lindner4, Alina Onea4, Sarah Jannier1, Alexandra Salmon1, Guillaume Bergthold 1, Florence Vincent1, Marlène Deschuyter3, Marie-Odile Barbaza9 and Natacha Entz-Werlé1,3* Abstract Introduction Faced to the growing development of collecting systematic molecular analyses in relapsed pediatric cancers to transform their targeted matched therapies, this study aimed to assess the clinical and therapeutic indications of systematic diagnostic genomic explorations performed in pediatric solid cancers to determine which typeof screening and if it afford at relapse time an accurate targeted strategy. Methods A total of 280 patients less than 22 years, referred at the University Hospitals of Strasbourg for a newly diagnosed solid tumor from January 2015 to December 2021, were prospectively genomically investigated since diagnosis. Using 7 different molecular tests going from single-gene methods (IHC, FISH, RT-PCR, Sanger sequencing, droplet digital PCR) to largescale analyses (Next-Generation sequencing, RNAsequencing and FoundationOne®CDx), we explored retrospectively the molecular findings in those pediatric solid tumors (except hematolymphoid cancers) to improve diagnosis, prognosis assessment and relapse therapeutics. Results One hundred and ninety-eight patients (71%) underwent molecular biology (MB) at diagnosis. Thirty-eight different histologies were grouped into cerebral tumors (30%), sarcomas (26%, bone and soft tissues), various blastomas (27%), and other entities (17%) . Over a median 40-month follow-up, the overall survival rate of patients was 85% and the relapse rate 28% . Of the 326 analyses carried out, 245 abnormalities (single nucleotide variations: 50%, fusions: 25%, copy number alteration: 20%) concerning 70 oncogenes were highlighted. The overall clinical impact rate was 84% . Broad-spectrum analyses had a higher therapeutic impact (57%) than the targeted analyses (28%) . 75% of broad-spectrum tests found an actionable variant conducting 23% of patients to receive rapidly a matched targeted therapy since first relapse. Conclusion Our experience highlighted the clinical utility of molecular profiling of solid tumors as soon as at diagnosis in children to expect improving access to innovative agents at relapse. *Correspondence: Natacha Entz-Werlé [Natacha.entz-werle@chru-strasbourg.fr](Natacha.entz-werle@chru-strasbourg.fr) Full list of author information is available at the end of the article © The Author(s) 2024. Open Access This article is licensed under a Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License, which permits any non-commercial use, sharing, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons licence, and indicate if you modified the licensed material. You do not have permission under this licence to share adapted material derived from this article or parts of it. The images or other third party material in this article are included in the article’s Creative Commons licence, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons licence and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this licence, visit [http://creativecommons.org/licenses/by-

FAQs

What was the study’s primary goal?

To assess the clinical and therapeutic indications of systematic diagnostic genomic explorations in pediatric solid cancers and evaluate practical feasibility for precision oncology.

How were molecular analyses performed?

Patients were investigated using seven molecular tests, ranging from single-gene approaches (IHC, FISH, RT-PCR, Sanger sequencing, droplet digital PCR) to large-scale analyses such as next-generation sequencing, RNA sequencing, and FoundationOne®CDx.

What clinical impact did the genomic explorations show?

Overall clinical impact rate was 84%, and broad-spectrum analyses showed higher therapeutic impact (57%) than targeted analyses (28%).

How did genomic findings influence treatment at relapse?

Seventy-five percent of broad-spectrum tests identified actionable variants, and 23% of patients received rapidly matched targeted therapy at first relapse.

Sep 21, 2026

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