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).
In this webinar, Dr. Christian Thiede, Professor for Molecular Hematology at the Technical University of Dresden will discuss 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.
