NGS-based Assessment of Hematological Malignancies:

Managing a Complex Molecular Workflow


DATE: June 8, 2020

TIME: 11am EDT | 5pm CET


6.8 ArcherDx



The invention of novel high-throughput technologies, especially next-generation sequencing (NGS), has spurred our understanding of the development of human cancers and opened new avenues for rapid and comprehensive diagnosis. Especially in hematological malignancies, the availability of these novel high-throughput technologies has greatly enhanced our capabilities for the identification of disease, defining lesions and targets for tailored treatment. At the same time, these diagnostic tools have inherent aspects that make them vulnerable to false positives as well as false negatives. Major aspects are balanced coverage, the rate of detection of long insertions and deletions, as well as the sensitivity of the assay.

Besides these technical aspects, the comprehensive and adequate interpretation of results, especially in the light of more recent discoveries regarding preleukemic, clonal hematopoiesis, such as clonal hematopoiesis with indeterminate potential (CHIP), adds an additional layer of complexity, which requires a substantial level of expertise to avoid over- as well as underinterpretation of results.

Nevertheless, the important information gained by using NGS-based evaluation of patients for the presence of mutations enables much more comprehensive analysis; identification of disease-defining lesions (e.g., mutations in genes like NPM1, CEBPA, SETBP1); and potential targets for treatment (e.g., cKIT, FLT3) and risk stratification (e.g., TP53, RUNX1 or ASXL1).

The pros and cons of these methods, their appropriate and cost-effective use, as well as aspects to keep in mind for data interpretation will be discussed.

For Research Only. Not for use in diagnostics procedures.



Christian Thiede, MD

Professor for Molecular Hematology

Medical Faculty Carl Gustav Carus, Technical University of Dresden

Christian Thiede has 25 years of research experience in the field of molecular analysis of human tumors, especially in the field of leukemia and lymphoma. After finishing his medical education at the Free University of Berlin, he had three years of post-doctoral training in the Department for Hematology and Oncology at Humboldt  University/Charité, Berlin where he worked on the molecular characterization of gastric marginal zone B-cell lymphoma of mucosa-associated lymphoid tissue. In 1996, he went to Dresden to build up a research group and a diagnostic laboratory at the newly established Medical Faculty at the Technical University of Dresden. Since 2006, he has held a position as Professor for Molecular Hematology at the Medical Faculty Carl Gustav Carus, Technical University of Dresden. He is head of the working group for molecular diagnostics of the German Society for Hematology and Oncology and leads the Minimal Residual Disease Work Package of the European Leukemia Network.

His major research focus is the understanding of the molecular mechanisms involved in leukemogenesis, alterations involved in treatment resistance, as well as the use of this information to perform targeted treatment and molecular monitoring of treatment response.