title: Mast cells from different molecular and prognostic subtypes of systemic mastocytosis display distinct immunophenotypes.
abstract: BACKGROUND
  Systemic mastocytosis (SM) is a heterogeneous group of disorders with distinct clinical and biological behavior. Despite this, little is known about the immunophenotypic features of the distinct diagnostic categories of SM.
  
  
  OBJECTIVE
  To analyze the immunophenotypic characteristics of bone marrow (BM) mast cells (MCs) of different subtypes of SM.
  
  
  METHODS
  Bone marrow samples from 123 patients with different subtypes of SM and 92 controls were analyzed for a broad panel of immunophenotypic markers by flow cytometry.
  
  
  RESULTS
  Three clearly different maturation-associated immunophenotypic profiles were found for BMMCs in SM. These different profiles were associated with both genetic markers of the disease and its clinical behavior. BMMCs from poor-prognosis categories of SM (aggressive SM and MC leukemia) typically showed an immature phenotype with clonal involvement of all myeloid lineages by the D816V stem cell growth factor receptor gene (KIT) mutation. In turn, a mature activated versus resting BMMC immunophenotype was commonly found among patients with good-prognosis subtypes of SM depending on whether they carried (indolent SM and clonal MC activation disorders) or not (well differentiated SM) the D816V KIT mutation.
  
  
  CONCLUSIONS
  Bone marrow MCs from SM show 3 different maturation-related immunophenotypic profiles that are associated with both the genetic markers of the disease and its clinical behavior.
authors.affiliation: Servicio General de Citometría, Instituto de Biología Molecular y Celular del Cáncer, Centro de Investigación del Cáncer/IBMCC (CSIC-USAL) and Departamento de Medicina, Universidad de Salamanca, Salamanca, Spain.
authors.forename: Cristina
authors.initials: C
authors.lastname: Teodosio
authors.forename: Andrés C
authors.initials: AC
authors.lastname: García-Montero
authors.forename: María
authors.initials: M
authors.lastname: Jara-Acevedo
authors.forename: Laura
authors.initials: L
authors.lastname: Sánchez-Muñoz
authors.forename: Ivan
authors.initials: I
authors.lastname: Alvarez-Twose
authors.forename: Rosa
authors.initials: R
authors.lastname: Núñez
authors.forename: Lawrence B
authors.initials: LB
authors.lastname: Schwartz
authors.forename: Andrew F
authors.initials: AF
authors.lastname: Walls
authors.forename: Luis
authors.initials: L
authors.lastname: Escribano
authors.forename: Alberto
authors.initials: A
authors.lastname: Orfao
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001854:Bone Marrow Cells / Q000276:immunology; D002469:Cell Separation; D005260:Female; D005434:Flow Cytometry; D006801:Humans; D016130:Immunophenotyping; D008297:Male; D008407:Mast Cells / Q000276:immunology*; D008415:Mastocytosis / Q000235:genetics* / Q000276:immunology*; D008875:Middle Aged; D009154:Mutation; D016133:Polymerase Chain Reaction; D011379:Prognosis; D019089:Stem Cell Factor / Q000235:genetics*; D055815:Young Adult
chemical_list: D019089:Stem Cell Factor