Clinical utility of custom-designed NGS panel testing in pediatric tumors.

Autor: Surrey LF; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., MacFarland SP; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Chang F; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Cao K; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Rathi KS; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Akgumus GT; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Gallo D; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Lin F; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Gleason A; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Raman P; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics, Children's Hospital of Philadelphia, Philadelphia, PA, USA., Aplenc R; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Bagatell R; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Minturn J; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Mosse Y; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Santi M; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Tasian SK; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Waanders AJ; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Center for Data-Driven Discovery in Biomedicine, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Sarmady M; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA.; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA., Maris JM; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Hunger SP; Division of Oncology, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA.; Center for Childhood Cancer Research, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA., Li MM; Department of Pathology and Laboratory Medicine, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA. lim5@email.chop.edu.; Division of Genomic Diagnostics, Children's Hospital of Philadelphia, Philadelphia, PA, 19104, USA. lim5@email.chop.edu.; Department of Pediatrics, The Perelman School of Medicine at the University of Pennsylvania, Philadelphia, PA, 19104, USA. lim5@email.chop.edu.; Department of Pathology and Laboratory Medicine, The Children's Hospital of Philadelphia, The University of Pennsylvania Perelman School of Medicine, 3615 Civic Center Blvd., ARC 716i, Philadelphia, PA, 19104, USA. lim5@email.chop.edu.
Jazyk: angličtina
Zdroj: Genome medicine [Genome Med] 2019 May 28; Vol. 11 (1), pp. 32. Date of Electronic Publication: 2019 May 28.
DOI: 10.1186/s13073-019-0644-8
Abstrakt: Background: Somatic genetic testing is rapidly becoming the standard of care in many adult and pediatric cancers. Previously, the standard approach was single-gene or focused multigene testing, but many centers have moved towards broad-based next-generation sequencing (NGS) panels. Here, we report the laboratory validation and clinical utility of a large cohort of clinical NGS somatic sequencing results in diagnosis, prognosis, and treatment of a wide range of pediatric cancers.
Methods: Subjects were accrued retrospectively at a single pediatric quaternary-care hospital. Sequence analyses were performed on 367 pediatric cancer samples using custom-designed NGS panels over a 15-month period. Cases were profiled for mutations, copy number variations, and fusions identified through sequencing, and their clinical impact on diagnosis, prognosis, and therapy was assessed.
Results: NGS panel testing was incorporated meaningfully into clinical care in 88.7% of leukemia/lymphomas, 90.6% of central nervous system (CNS) tumors, and 62.6% of non-CNS solid tumors included in this cohort. A change in diagnosis as a result of testing occurred in 3.3% of cases. Additionally, 19.4% of all patients had variants requiring further evaluation for potential germline alteration.
Conclusions: Use of somatic NGS panel testing resulted in a significant impact on clinical care, including diagnosis, prognosis, and treatment planning in 78.7% of pediatric patients tested in our institution. Somatic NGS tumor testing should be implemented as part of the routine diagnostic workup of newly diagnosed and relapsed pediatric cancer patients.
Databáze: MEDLINE
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