Advances in Diagnosis and Risk Stratification of Acute Myeloid Leukemia and Myelodysplastic Syndromes

Cancer Treat Res. 2021:181:1-16. doi: 10.1007/978-3-030-78311-2_1.

Abstract

Advances in high-throughput DNA sequencing technology in the past decade have made a tremendous impact on basic science and clinical practice. Methods using the latest next generation sequencing technology can sequence an entire human genome within a few hours. Diagnosis and prognostication of hematologic neoplasms have moved from traditional histology and immunophenotyping to integration of cytogenetic and genomic alterations. Using illustrative cases, this chapter provides an overview of the utility of using genomic data for prognostication as well as treatment decision-making for patients with bone marrow neoplasms.

Keywords: Acute myeloid leukemia; Clonal hematopoiesis of indeterminate potential; Minimal residual disease; Mutation profiling; Myelodysplastic syndrome; Next generation sequencing.

MeSH terms

  • Genomics
  • High-Throughput Nucleotide Sequencing
  • Humans
  • Leukemia, Myeloid, Acute* / diagnosis
  • Leukemia, Myeloid, Acute* / genetics
  • Mutation
  • Myelodysplastic Syndromes* / diagnosis
  • Myelodysplastic Syndromes* / genetics
  • Risk Assessment