An institutional review of genomic sequencing in pediatric solid tumors.

Szczegóły
Abstrakt

Tytuł:: An institutional review of genomic sequencing in pediatric solid tumors.
Autorzy:: Turco GM; Pediatric Hematology/Oncology Fellow, Duke University, Durham, North Carolina, USA.
Gupta A; Division of Pediatric Hematology/Oncology, Roswell Park Oishei Children's Cancer and Blood Disorders Program, Buffalo, New York, USA.
Monteleone P; Division of Pediatric Hematology/Oncology, State University of New York Upstate Medical University, Syracuse, New York, USA.
Kelly KM; Division of Pediatric Hematology/Oncology, Roswell Park Oishei Children's Cancer and Blood Disorders Program, Buffalo, New York, USA.
Klein RD; OmniSeq Corporation, Buffalo, New York, USA.
Wiltsie L; Division of Pediatric Hematology/Oncology, Massachusetts General Hospital for Children, Boston, Massachusetts, USA.
Barth M; Division of Pediatric Hematology/Oncology, Roswell Park Oishei Children's Cancer and Blood Disorders Program, Buffalo, New York, USA.
Źródło:: Pediatric blood & cancer [Pediatr Blood Cancer] 2023 Jun; Vol. 70 (6), pp. e30324. Date of Electronic Publication: 2023 Apr 05.
Typ publikacji:: Journal Article; Research Support, Non-U.S. Gov't
Język:: English
Imprint Name(s):: Original Publication: Hoboken, N.J. : John Wiley, c 2004-
MeSH Terms:: Precision Medicine*/methods
Neoplasms*/drug therapy
Humans ; Child ; Retrospective Studies ; Mutation ; High-Throughput Nucleotide Sequencing/methods ; Genomics/methods ; Biomarkers, Tumor/genetics ; Molecular Targeted Therapy/methods
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Contributed Indexing:: Keywords: OmniSeq; genomic sequencing; precision medicine; solid tumors; targeted
Substance Nomenclature:: 0 (Biomarkers, Tumor)
Entry Date(s):: Date Created: 20230405 Date Completed: 20230426 Latest Revision: 20230502
Update Code:: 20240105
DOI:: 10.1002/pbc.30324
PMID:: 37017066
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Background: Although tumor genomic profiling has aided the advancement of targeted genetic therapy, its clinical integration remains a challenge in pediatric cancers due to lower mutation frequency and less available targeted drugs. There have been multiple novel studies examining molecular sequencing in pediatrics; however, many of these studies primarily utilized large-scale, genome-wide screening applications that limit applicable use due to the availability of testing. This study examined the institutional use of a targeted, clinically available approach to tumor genomic sequencing.
Methods: A retrospective chart review was performed on pediatric patients with solid tumors who were managed at Roswell Park Comprehensive Cancer Center and underwent molecular testing of their tumor biopsy via OmniSeq from August 2016 to July 2021. Results were reviewed for mutations considered to be "actionable" by targeted therapy. Patients with actionable mutations were further examined to evaluate treatment course, receival of targeted therapy, and clinical outcomes.
Results: We identified 64 pediatric patients consisting of 20 (31%) with CNS tumors and 44 (69%) with non-CNS tumors, ranging in age from 9 months to 21 years. Thirty-five total actionable mutations were identified amongst 27 patients (42%). Of these 27, 12 patients (44%) received at least 1 targeted drug against a respective actionable mutation, of which 6 patients (50%) achieved clinical benefit to therapy, including 1 complete response.
Conclusions: The use of a clinically focused and readily available targeted molecular sequencing panel identified actionable mutations at a comparable rate to the large-scale, less readily available sequencing panels utilized in other studies. Half of our patients who received targeted therapy achieved a complete response or clinical benefit from therapy. Although targeted therapy has a role in pediatric cancer treatment, many newer drugs require further research on their safety and efficacy.
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