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

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 th...

Celý popis

Uloženo v:

Podrobná bibliografie
Vydáno v:	Genome medicine Ročník 11; číslo 1; s. 32 - 14
Hlavní autoři:	Surrey, Lea F., MacFarland, Suzanne P., Chang, Fengqi, Cao, Kajia, Rathi, Komal S., Akgumus, Gozde T., Gallo, Daniel, Lin, Fumin, Gleason, Adam, Raman, Pichai, Aplenc, Richard, Bagatell, Rochelle, Minturn, Jane, Mosse, Yael, Santi, Mariarita, Tasian, Sarah K., Waanders, Angela J., Sarmady, Mahdi, Maris, John M., Hunger, Stephen P., Li, Marilyn M.
Médium:	Journal Article
Jazyk:	angličtina
Vydáno:	London BioMed Central 28.05.2019 BioMed Central Ltd Springer Nature B.V BMC
Témata:	Adults Bioinformatics Biomedical and Life Sciences Biomedicine Brain cancer Cancer Cancer Research Care and treatment Central nervous system Child Child health Childhood cancer Chromosomes Copy number Criminal investigation Deoxyribonucleic acid Diagnosis DNA DNA, Neoplasm - chemistry DNA, Neoplasm - genetics Gene expression Genes Genetic screening Genetic testing Genetic Testing - methods Genetic Testing - standards Genomes Hematology High-Throughput Nucleotide Sequencing - methods High-Throughput Nucleotide Sequencing - standards Human Genetics Humans Kinases Laboratories Leukemia Lymphoma Medical care quality Medical research Medicine/Public Health Metabolomics Molecular profiling Mutation National libraries Neoplasms - diagnosis Neoplasms - genetics Neuroblastoma Next-generation sequencing Oncology Patients Pediatric cancer Pediatric tumors Pediatrics Prognosis Recurrence (Disease) Sequence Analysis, DNA - methods Sequence Analysis, DNA - standards Solid tumors Studies Systems Biology Tumor sequencing Tumors United States > US Tumor sequencing Pediatric cancer Molecular profiling
ISSN:	1756-994X, 1756-994X
On-line přístup:	Získat plný text
Tagy:	Přidat tag Žádné tagy, Buďte první, kdo vytvoří štítek k tomuto záznamu!

Popis
Shrnutí:	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.
Bibliografie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Article-2 ObjectType-Undefined-1 ObjectType-Feature-3 content type line 23
ISSN:	1756-994X 1756-994X
DOI:	10.1186/s13073-019-0644-8