APR 10, 2019 1:30 PM PDT

Detection and Interpretation of Complex Myeloid Leukemia Mutations

Sponsored by: QIAGEN
C.E. Credits: P.A.C.E. CE Florida CE
Speakers
  • Senior Global Product Manager of Personalized Healthcare/Oncology at QIAGEN
    Biography
      Dr. Véronique Laloux is Senior Global Product Manager of Personalized Healthcare/Oncology at QIAGEN. With 15 years of experience working for molecular diagnostic industries in sales, marketing and product management roles, Véronique is responsible for onco-hematology content development of PCR (ipsogen brand) and GeneReader NGS System (QIAact brand) assays. Véronique holds a Ph.D. in Molecular Biology and Biochemistry from University Pierre et Marie Curie, Paris 6, France.
    • Product Owner of QIAGEN Clinical Insight (QCI™) Intepret
      Biography
        Dr. Beate Litzenburger is the product owner of QIAGEN Clinical Insight (QCI™) Intepret. Prior to joining the QIAGEN team, Dr. Litzenburger led clinical decision support for several next generation sequencing research protocols at MD Anderson Cancer Center. In this role, Dr. Litzenburger was responsible for providing alteration interpretation, drug, and clinical trial options to clinicians. Dr. Litzenburger received her Ph.D. in molecular genetics from the University of Aachen in Germany and was a National Cancer Institute-supported post-doctoral fellow in the Department of Clinical Cancer Prevention at MD Anderson Cancer Center.

      Abstract

      Myeloid leukemias encompass a group of different diseases that include myeloproliferative neoplasms (MPN), myelodysplastic syndrome (MDS) or acute myeloid leukemia (AML). These diseases are driven by somatic mutations acquired in 20-30 key genes. Given the genetic complexity of these heterogeneous disorders, there is an increasing need for molecular identification of key mutations across all of these genes. 

      In this webinar we will introduce two solutions for the detection and interpretation of mutations associated with myeloid leukemias.

      In the first half we introduce an integrated Sample to Insight NGS clinical research workflow for detection of myeloid leukemia mutations.  The QIAact Myeloid DNA UMI Panel in combination with the QIAGEN GeneReader™ NGS System provides a complete solution that can simultaneously test for around 9000 variants in 25 genes with reported relevance to clonal myeloid malignancy. The incorporation of unique molecular index (UMI) technology enables detection of even low-frequency variants, including JAK2 and KIT variants below the 1% variant allele frequency (VAF) and the KIT D816V mutation at 0.4% VAF. Accurate reporting of usually challenging-to-detect mutations such as the large CALR Type 1 (52 bp deletion), FLT3 ITDs (with identified insertion site), and GC-rich sequences such as in the CEBPA gene, are also possible due to the pairing of this digital sequencing approach with optimized bioinformatics. We will present clinical research data to show the successful detection and reporting low-frequency variants and challenging alterations with this complete assay.

      In the second half we present a bioinformatics solution for the clinical interpretation of somatic myeloid leukemia mutations. Cancer laboratories need rapid and reliable interpretation of identified genomic alterations. One of the challenges they face is producing standardized, reproducible interpretation and reporting of the most current and actionable information. QIAGEN Clinical Insight (QCI™) Interpret allows labs to deliver evidence-based, actionable insights. We will discuss the methodology and benefits of automating guidelines (AMP/ASCO/CAP and ACMG/AMP) for vetting somatic cancer alterations for actionability and pathogenicity in the same workflow while providing full transparency to the underlying evidence.

      Learning Objectives: 

      1. Understand the value of a tailored integrated Sample to Insight NGS workflow for the detection of complex mutations in myeloid leukemia
      2. Understand the value of standardized and consistent interpretation, especially for complex diseases like myeloid malignancies


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