The Impact of Somatic and Germline Mutations in Myelodysplastic Syndromes and Related Disorders

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Rafael Bejar, MD, PhD, is an Assistant Professor and physician-scientist at UC San Diego Moores Cancer Center where he has served on the faculty since 2012. His clinical practice is focused on the care of patients with MDS and related disorders. He has established an MDS Center of Excellence recognized by the MDS Foundation that offers expertise in hematopathology, clinical trials, genetic testing, and access to allogeneic stem cell transplantation. In addition, he teaches hematology, oncology, and cancer science courses at the medical school and in the biomedical sciences graduate program. Dr. Bejar's laboratory research is focused on the molecular basis of myeloid disorders and the use of genetics to inform the care of patients with MDS. He has collaborated with colleagues around the globe to define how acquired mutations in MDS are associated with clinical features and how they might predict outcomes and refine the prediction of prognosis for patients. He is a member of the International Working Group for Prognosis in MDS (IWG-PM) molecular subcommittee, which is now working to incorporate molecular mutations into the standard risk evaluation for MDS.

The ideas and viewpoints expressed in this commentary are those of the author and do not necessarily represent any policy, position, or program of NCCN.

Peter L. Greenberg, MD, is Professor of Medicine (Hematology), Emeritus, at Stanford Cancer Institute. Dr Greenberg's laboratory research focuses on evaluating molecular abnormalities in myelodysplastic syndromes (MDS), with specific interest in gene expression profiling of marrow stem and progenitor cells using RNA sequencing and microarray methodologies and proteomic analysis of aberrant antigen expression in plasma. As Director of the Stanford MDS Center, his clinical research involves design and coordination of clinical trials using experimental drugs with biologic focus for patients with lower- and higher-risk MDS not responding to standard therapies. He is Coordinator of the International Working Group for Prognosis in MDS (IWG-PM), which generated the revised MDS classification system (the IPSS-R) and is now evaluating the impact of molecular mutations on this risk-based prognostic system. He is Chair of the NCCN MDS Panel.

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