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Special Considerations in the Molecular Diagnostics of Pediatric Neoplasms

Adam S Fisch1, Alanna J Church2

  • 1Massachusetts General Hospital, Harvard Medical School, 55 Fruit Street, Warren Building 225, Boston, MA 02114, USA. Electronic address: https://twitter.com/AdamSFisch.

Clinics in Laboratory Medicine
|September 23, 2022
PubMed

Insights

Pediatric cancer molecular profiling requires specialized approaches due to unique genomic features. Tailored assays are crucial for diagnosing and treating childhood cancers effectively.

Area of Science:

  • Oncology
  • Genomics
  • Pediatrics

Background:

  • Pediatric neoplasms present distinct challenges compared to adult cancers.
  • Childhood cancer genomes often feature gene fusions and lower tumor mutational burden.
  • Unique molecular targets significantly impact pediatric cancer diagnosis, prognosis, and treatment.

Purpose of the Study:

  • To highlight the specific needs for molecular tumor profiling in pediatric cancer.
  • To emphasize the importance of specialized assays and interpretation workflows for children's cancers.
  • To address the unique genomic characteristics of pediatric neoplasms.

Main Methods:

  • Review of pediatric cancer genomics and molecular testing modalities.
  • Analysis of challenges in pediatric cancer molecular profiling.
  • Consideration of assay design for small sample sizes and gene fusion detection.

Main Results:

  • Pediatric cancers are frequently driven by gene fusions, unlike adult cancers.
  • Lower tumor mutational burden is characteristic of pediatric neoplasms.
  • Specific molecular targets offer potential for improved pediatric cancer management.

Conclusions:

  • Molecular tumor profiling in children necessitates tailored strategies.
  • Assays must accommodate small biopsy sizes and detect gene fusions.
  • Consideration of germline associations is vital for comprehensive pediatric cancer care.
Keywords:
Gene fusionsMolecular diagnosticsNext-generation sequencingPediatric cancerPediatric neoplasia

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