title: The evolving field of prognostication and risk stratification in MDS: Recent developments and future directions.
abstract: The clinical course of patients with myelodysplastic syndromes (MDS) is characterized by wide variability reflecting the underlying genetic and biological heterogeneity of the disease. Accurate prediction of outcomes for individual patients is an integral part of the evidence-based risk/benefit calculations that are necessary for tailoring the aggressiveness of therapeutic interventions. While several prognostication tools have been developed and validated for risk stratification, each of these systems has limitations. The recent progress in genomic sequencing techniques has led to discoveries of recurrent molecular mutations in MDS patients with independent impact on relevant clinical outcomes. Reliable assays of these mutations have already entered the clinic and efforts are currently ongoing to formally incorporate mutational analysis into the existing clinicopathologic risk stratification tools. Additionally, mutational analysis holds promise for going beyond prognostication to therapeutic selection and individualized treatment-specific prediction of outcomes; abilities that would revolutionize MDS patient care. Despite these exciting developments, the best way of incorporating molecular testing for use in prognostication and prediction of outcomes in clinical practice remains undefined and further research is warranted.
authors.affiliation: Section of Hematology, Department of Internal Medicine, Yale University, New Haven, CT, USA.
authors.forename: Eun-Ju
authors.initials: EJ
authors.lastname: Lee
authors.affiliation: Section of Hematology, Department of Internal Medicine, Yale University, New Haven, CT, USA.
authors.forename: Nikolai
authors.initials: N
authors.lastname: Podoltsev
authors.affiliation: Section of Hematology, Department of Internal Medicine, Yale University, New Haven, CT, USA.
authors.forename: Steven D
authors.initials: SD
authors.lastname: Gore
authors.affiliation: Section of Hematology, Department of Internal Medicine, Yale University, New Haven, CT, USA. Electronic address: amer.zeidan@yale.edu.
authors.forename: Amer M
authors.initials: AM
authors.lastname: Zeidan
mesh_terms: D000964:Antimetabolites, Antineoplastic / Q000627:therapeutic use; D002869:Chromosome Aberrations; D002897:Chromosomes, Human, Pair 7; D004252:DNA Mutational Analysis; D019468:Disease Management; D018450:Disease Progression; D006801:Humans; D009154:Mutation; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000188:drug therapy / Q000235:genetics / Q000473:pathology; D009363:Neoplasm Proteins / Q000235:genetics*; D057285:Precision Medicine / Q000639:trends*; D011379:Prognosis; D012107:Research Design; D018570:Risk Assessment; D016019:Survival Analysis; D016896:Treatment Outcome
chemical_list: D000964:Antimetabolites, Antineoplastic; D009363:Neoplasm Proteins
keywords: Biomarkers; Genome sequencing; Hypomethylating agents; Mutations; Myelodysplastic syndromes (MDS); Prognosis; Prognostication; Risk stratification