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  • 简介: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.

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