The evolving role of genomic testing in assessing prognosis of patients with myelodysplastic syndromes

The introduction into routine hematology-oncology clinical practice of molecular genetic testing assays based on next-generation sequencing platforms is prompting reassessment of the importance of molecular assay results in comparison to existing disease-specific risk stratification tools based on clinical assessment and light microscopy. For patients with myelodysplastic syndromes (MDS), the most commonly used tools for prognostication currently include the International Prognostic Scoring System (IPSS) and the Revised IPSS (IPSS-R), which are based on marrow blast proportion, number and degree of cytopenias, and the metaphase karyotype. Integration of DNA sequencing data into an existing evidence-based practice approach inclusive of the IPSS or IPSS-R may be challenging, but the additional information provided by molecular genetic testing clearly can influence clinical decisions, such as determining patients' eligibility for clinical trials of novel targeted agents or helping assess which patients should be referred for allogeneic hematopoietic stem cell transplantation. This review discusses the prognostic and predictive value of mutation testing in the context of current clinical care of patients with MDS.