Themyelodysplastic/myeloproliferativeneoplasms(MDS/MPNs)areauniquegroupofhematologicmalignanciescharacterizedbyconcomitantmyelodysplasticandmyeloproliferativefeatures.Accordingtothe2008WHOclassification,thecategoryincludesatypicalchronicmyeloidleukemia(aCML),chronicmyelomonocyticleukemia(CMML),juvenilemyelomonocyticleukemia(JMML),MDS/MPN-unclassifiable(MDS/MPN-U),andtheprovisionalentityrefractoryanemiawithringsideroblastsandthrombocytosis(RARS-T).Althoughdiagnosiscurrentlyremainsbasedonclinicopathologicfeatures,theincorporationofnextgenerationplatformshasallowedfortherecentmolecularcharacterizationofthesediseaseswhichhasrevealeduniqueandcomplexmutationalprofilesthatsupporttheirdistinctbiologyandisanticipatedtosoonplayanintegralroleindiagnosis,prognostication,andtreatment.Futuregoalsofresearchshouldincludethedevelopmentofdisease-modifyingtherapies,andfurthergeneticunderstandingofthecategorywilllikelyformthefoundationoftheseefforts.
