Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting Journal Article


Authors: He, J.; Abdel-Wahab, O.; Nahas, M. K.; Wang, K.; Rampal, R. K.; Intlekofer, A. M.; Patel, J.; Krivtsov , A.; Frampton, G. M.; Young, L. E.; Zhong, S.; Bailey, M.; White, J. R.; Roels, S.; Deffenbaugh, J.; Fichtenholtz, A.; Brennan, T.; Rosenzweig, M.; Pelak, K.; Knapp, K. M.; Brennan, K. W.; Donahue, A. L.; Young, G.; Garcia, L.; Beckstrom, S. T.; Zhao, M.; White, E.; Banning, V.; Buell, J.; Iwanik, K.; Ross, J. S.; Morosini, D.; Younes, A.; Hanash, A. M.; Paietta, E.; Roberts, K.; Mullighan, C.; Dogan, A.; Armstrong, S. A.; Mughal, T.; Vergilio, J. A.; Labrecque, E.; Erlich, R.; Vietz, C.; Yelensky, R.; Stephens, P. J.; Miller, V. A.; Van Den Brink, M. R. M.; Otto, G. A.; Lipson, D.; Levine, R. L.
Article Title: Integrated genomic DNA/RNA profiling of hematologic malignancies in the clinical setting
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. © 2016 by The American Society of Hematology.
Journal Title: Blood
Volume: 127
Issue: 24
ISSN: 0006-4971
Publisher: American Society of Hematology  
Date Published: 2016-06-16
Start Page: 3004
End Page: 3014
Language: English
DOI: 10.1182/blood-2015-08-664649
PROVIDER: scopus
PMCID: PMC4968346
PUBMED: 26966091
DOI/URL:
Notes: Article -- Export Date: 6 December 2016 -- Source: Scopus
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MSK Authors
  1. Raajit Kumar Rampal
    128 Rampal
  2. Alan M Hanash
    81 Hanash
  3. Ross Levine
    469 Levine
  4. Jay Prakash Patel
    52 Patel
  5. Kristina M Knapp
    32 Knapp
  6. Scott Allen Armstrong
    108 Armstrong
  7. Anas Younes
    195 Younes
  8. Ahmet Dogan
    166 Dogan