The Progress of Next Generation Sequencing in Assessment of Myeloid Malignancies

With increasing characterization of disease associated molecular markers, it is becoming challenging to perform multiple single-gene molecular assays. Specific molecular markers are helpful for diagnostic, prognostic evaluation and management of hematologic malignancies. Introduction and rapid progress on next generation sequencing has led to extensive modifications and offers a novel way to integrate concurrent assessment of multiple target genes in routine laboratory analysis especially in view of increasing clinical demands for testing of multiple genetic aberrations. Despite challenges in next generation sequencing particularly involving bioinformatics support and clinical annotation of novel variants, assessment of myeloid neoplasms with targeted next generation sequencing panels showing evidence to improve diagnosis, assist therapeutic decisions and provide better information about prognosis, as well as detection of minimal residual disease since it facilitates significant advantages over single-gene assays. Herein, we provide information for application and utilization of next generation sequencing studies with a focus on the most important mutations in clinical assessment of hematologic neoplasms such as acute myeloid leukemia, myelodysplastic syndrome, myeloproliferative neoplasms and other myelodysplastic/myeloproliferative neoplasms in order to integrate into daily clinical practice.