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Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting.
- Source :
-
Blood [Blood] 2016 Jun 16; Vol. 127 (24), pp. 3004-14. Date of Electronic Publication: 2016 Mar 10. - Publication Year :
- 2016
-
Abstract
- The spectrum of somatic alterations in hematologic malignancies includes substitutions, insertions/deletions (indels), copy number alterations (CNAs), and a wide range of gene fusions; no current clinically available single assay captures the different types of alterations. We developed a novel next-generation sequencing-based assay to identify all classes of genomic alterations using archived formalin-fixed paraffin-embedded blood and bone marrow samples with high accuracy in a clinically relevant time frame, which is performed in our Clinical Laboratory Improvement Amendments-certified College of American Pathologists-accredited laboratory. Targeted capture of DNA/RNA and next-generation sequencing reliably identifies substitutions, indels, CNAs, and gene fusions, with similar accuracy to lower-throughput assays that focus on specific genes and types of genomic alterations. Profiling of 3696 samples identified recurrent somatic alterations that impact diagnosis, prognosis, and therapy selection. This comprehensive genomic profiling approach has proved effective in detecting all types of genomic alterations, including fusion transcripts, which increases the ability to identify clinically relevant genomic alterations with therapeutic relevance.<br /> (© 2016 by The American Society of Hematology.)
- Subjects :
- Chromosome Aberrations
Clinical Laboratory Techniques methods
DNA Mutational Analysis methods
DNA, Neoplasm analysis
Gene Expression Regulation, Neoplastic
Hematologic Neoplasms pathology
High-Throughput Nucleotide Sequencing
Humans
Mutation
Polymorphism, Genetic
RNA, Neoplasm analysis
Sensitivity and Specificity
Systems Integration
DNA Fingerprinting methods
Gene Expression Profiling methods
Genomics methods
Hematologic Neoplasms genetics
Hematologic Neoplasms metabolism
Subjects
Details
- Language :
- English
- ISSN :
- 1528-0020
- Volume :
- 127
- Issue :
- 24
- Database :
- MEDLINE
- Journal :
- Blood
- Publication Type :
- Academic Journal
- Accession number :
- 26966091
- Full Text :
- https://doi.org/10.1182/blood-2015-08-664649