Implications of mutation profiling in myeloid malignancies: Part 1: Myelodysplastic syndromes and acute myeloid leukemia

The advent of high-throughput gene sequencing has revolutionized our understanding of the genetic mutations that drive myeloid malignancies. While these mutations are of interest pathobiologically, they are increas­ingly being recognized as clinically meaningful in providing diagnostic, prognostic, and therapeutic information to guide patient care. In this first part of our two-part review, we introduce mutation profiling as a relevant clinical tool for hematologists treating patients with myeloid malignancies. Next, we discuss the diagnostic and prognostic role of mutation profiling in myelodysplastic syndrome and acute myeloid leukemia. Finally, we detail the therapeutic implica­tions of specific mutations in myelodysplastic syndrome and acute myeloid leukemia. In Part 2, we will discuss similar clinical approaches using mutation profiling in myeloproliferative neoplasms and other myeloid malignancies.