The immunophenotype of mast cells and its utility in the diagnostic work‐up of systemic mastocytosis

Journal of Leukocyte Biology: An Official Publication of the Reticuloendothelial Society

关键词: flow cytometry;    maturation;    activation;    classification;    prognosis;   

DOI  :  10.1189/jlb.5RU0614-296R

学科分类：生理学

来源: Federation of American Societies for Experimental Biology

【 摘 要 】

SMcomprisesaheterogeneousgroupofdisorders,characterizedbyanabnormalaccumulationofclonalMCsin1ormoretissues,frequentlyinvolvingtheskinandBM.Despitethefactthatmostadultpatients(>90%)carrythesamegeneticlesion(D816VKITmutation),thediseasepresentswithmultiplevariantswithverydistinctclinicalandbiologicfeatures,adiverseprognosis,anddifferenttherapeuticrequirements.RecentadvancesinthestandardizationofthestudyofBMMCbyMFCallowedreproducibleidentificationandcharacterizationofnormal/reactiveMCsandtheirprecursors,aswellastheestablishmentofthenormalMCmaturationalprofiles.Analysisoflargegroupsofpatientsversusnormal/reactivesampleshashighlightedtheexistenceofaberrantMCphenotypesinSM,whichareessentialforthediagnosisofthedisease.Inturn,3clearlydistinctandalteredmaturation‐associatedimmunophenotypicprofileshavebeenreportedrecentlyinSM,whichprovidecriteriaforthedistinctionbetweenISMpatientswithMC‐restrictedandmultilineageKITmutation;thus,immunphenotypingalsocontributestoprognosticstratificationofISM,particularlywhenanalysisoftheKITmutationonhighlypurifiedBMcellsisnotroutinelyavailableinthediagnosticwork‐upofthedisease...

【 授权许可】

CC BY