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

ABSTRACT: 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.

SUBMITTER: Surrey LF

PROVIDER: S-EPMC6537185 | biostudies-literature | 2019 May

REPOSITORIES: biostudies-literature

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

Surrey Lea F LF MacFarland Suzanne P SP Chang Fengqi F Cao Kajia K Rathi Komal S KS Akgumus Gozde T GT Gallo Daniel D Lin Fumin F Gleason Adam A Raman Pichai P Aplenc Richard R Bagatell Rochelle R Minturn Jane J Mosse Yael Y Santi Mariarita M Tasian Sarah K SK Waanders Angela J AJ Sarmady Mahdi M Maris John M JM Hunger Stephen P SP Li Marilyn M MM

Genome medicine 20190528 1

<h4>Background</h4>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.<h4>Method ...[more]

PMID: 31133068

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

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

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