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Moderator, Harry P. Erba, MD, PhD, introduces a panel discussion exploring recent advances and future strategies for myelodysplastic syndromes (MDS) and chronic myeloid leukemia (CML). The discussion includes expert perspectives from Mark J. Levis, MD, PhD, Elias J. Jabbour, MD, Rami S. Komrokji, MD, Ruben A. Mesa, MD, and Rafael Bejar, MD, PhD.
As a rare disease, diagnosis is a major concern in MDS. In general, the disorder is characterized by ineffective hematopoiesis, peripheral blood cytopenias, and increased risk of progression to acute leukemia. Additionally, Bejar notes, recent advances into the molecular pathogenesis of MDS have allowed for a genetic approach to diagnosis, although this is not yet routinely performed.
There is an approximate 16% discrepancy in the diagnoses made between the community setting and academic institution, where genetic tests are performed more regularly. To create an appropriate treatment plan the biology, pathology, and molecular markers should all be considered, Jabbour believes.
Until recently genetics were not officially incorporated into the diagnostic criteria for MDS, Komrokji states. Cytogenetic changes, such as deletion 5q, are now accepted for a provisional diagnosis, and criteria are beginning to focus more on incorporating molecular changes. Overall, Levis believes, molecular medicine is likely going to change the way MDS is diagnosed with a complete sea change in 5 to 10 years.
While genetics have predictive value, their prognostic value in MDS remains a challenge that still requires refinement, Komrokji believes. One of the ways to obtain more predictive value from genetics in MDS is through the development of more sophisticated targeted therapeutic options, such as those targeting the BCR-ABL mutation in CML, Bejar believes.