A Next-Generation Sequencing-Based Assay for Hematologic Malignancies

Clinical Pearls

Marcel R.M. van den Brink, MD, PhD, Head, Division of Hematologic Oncology, Alan N. Houghton Chair, Memorial Sloan Kettering Cancer Center, describes a novel CLIA-certified next-generation sequencing-based assay for hematologic malignancies. The analysis of the assay was presented at the 2013 ASH Annual Meeting. Information below reflects that of which was published in the abstract prior to the meeting.

• DNA and RNA were successfully extracted from specimens collected from 319 patients.
• 885 alterations were identified including (but not limited to) mutations inTP53,ASXL1,KRAS,NRAS,IDH2,TET2,SF3B1,JAK2,MLL2,DNMT3A,RUNX1, andSRSF2.
• The test demonstrated a high-level of accuracy at detecting gene substitutions, copy number alterations, insertions, and deletions.

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