Technological advances in DNA analysis have revolutionized our understanding of the genetic basis of myelodysplastic syndrome (MDS). As this technology is incorporated into the routine evaluation of patients, the clinical benefits of genetic analysis will continue to expand. Currently available are two widely used and complementary strategies for querying genetic abnormalities in patients with MDS: single-nucleotide polymorphism–based genetic arrays (SNPa) for detection of large-scale genomic gains and losses; and next-generation sequencing (NGS) studies for detection of single-gene abnormalities, including small insertions/deletions and substitution mutations (Table). This technology is revolutionizing the practice of clinical hematology in a variety of ways, including allowing for more accurate and timely diagnosis by the laboratory, particularly in those cases where the morphologic findings and the results of classical karyotyping are inconclusive. And the results of these tests are being used to personalize the management of patients with MDS. For example, the spectrum of genetic abnormalities often varies among patients with the same WHO classification of MDS, and, in such cases, molecular analyses can be used to subclassify patients into categories that have prognostic and therapeutic implications.
The Future is Now for the Laboratory Evaluation of Myelodysplastic Syndromes
Source: The Hematologist