Dataset Information

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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Publications

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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Dataset Information

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

Background

Methods

Results

Conclusions

Publications

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

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