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Related Experiment Video

Updated: Jan 7, 2026

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Precision Oncology for Pediatric Solid Tumors Using In-Hospital Pediatric/AYA Malignancy-Specific Panel Sequencing.

Masato Kojima1, Sho Kurihara1, Isamu Saeki1

  • 1Department of Pediatric Surgery, Hiroshima University Hospital, Hiroshima, Japan.

Cancer Science
|December 29, 2025
PubMed
Summary
This summary is machine-generated.

In-hospital molecular profiling for pediatric and adolescent/young adult (AYA) cancers accurately identifies diagnostic, prognostic, and targetable variants. This approach aids in precise diagnosis, prognosis prediction, and treatment selection for rare cancers with a rapid turnaround time.

Keywords:
adolescentin‐hospital sequencingmolecular profilingpediatricprecision oncologytargeted sequencing panelyoung adult

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Area of Science:

  • Genomic Medicine
  • Pediatric Oncology
  • Molecular Diagnostics

Background:

  • Precision oncology is revolutionizing cancer treatment by utilizing tumor genomic profiles.
  • Pediatric and adolescent/young adult (AYA) malignancies represent rare, aggressive cancers requiring advanced diagnostic and therapeutic strategies.
  • Molecular profiling is crucial for understanding the genetic underpinnings of these challenging malignancies.

Purpose of the Study:

  • To assess the utility of in-hospital molecular profiling for pediatric and AYA solid tumors.
  • To evaluate the role of a targeted sequencing panel in improving diagnosis, prognosis, and identifying therapeutic targets.
  • To determine the efficiency and turnaround time of in-hospital molecular profiling in a clinical setting.

Main Methods:

  • The Oncomine Childhood Cancer Research Assay (203 genes, 1700 fusions) was used for molecular profiling.
  • 153 samples at diagnosis and 34 at relapse/refractory from 165 pediatric and AYA patients were analyzed.
  • In-hospital molecular profiling was simulated, focusing on variant identification, clinical significance, and turnaround time (TAT).

Main Results:

  • A high rate of reportable variants (81.8%) was identified, with 33.1% having clinical significance.
  • Clinically significant variants included diagnostic (13.9%), prognostic (9%), targetable (21.9%), and drug resistance (9.6%) alterations.
  • High levels of evidence supported diagnostic and prognostic variants, and germline mutations in cancer predisposition syndromes were validated. The TAT was within seven working days.

Conclusions:

  • In-hospital molecular profiling using a tailored sequencing panel effectively identifies reportable variants in pediatric and AYA malignancies.
  • This approach facilitates accurate diagnosis, malignancy grading, treatment selection, and identification of cancer predisposition syndromes.
  • The rapid TAT of in-hospital profiling supports timely clinical decision-making for these rare and aggressive cancers.