Special Considerations in the Molecular Diagnostics of Pediatric Neoplasms.

Clin Lab Med

Laboratory for Molecular Pediatric Pathology (LaMPP), Department of Pathology, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA. Electronic address:

Published: September 2022

Pediatric neoplasms have unique demands, including triaging of small biopsies for multiple testing modalities, and a pediatric cancer genome that is notably different from the adult cancer genome. Pediatric cancers are more likely to be driven by gene fusions and typically have a lower tumor mutational burden. Clinically relevant unique molecular targets exist within pediatric cancers, with important implications for diagnosis, prognosis, and treatment selection. Hence, assays and interpretation workflows must be designed thoughtfully to support molecular tumor profiling for children with cancer, including accommodation of small samples, detection of gene fusions, and consideration of potential germline associations.

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http://dx.doi.org/10.1016/j.cll.2022.05.007DOI Listing

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