title: Bone marrow immunophenotyping by flow cytometry in refractory cytopenia of childhood.
abstract: Refractory cytopenia of childhood is the most common type of childhood myelodysplastic syndrome. Because the majority of children with refractory cytopenia have a normal karyotype and a hypocellular bone marrow, differentiating refractory cytopenia from the immune-mediated bone marrow failure syndrome (very) severe aplastic anemia can be challenging. Flow cytometric immunophenotyping of bone marrow has been shown to be a valuable diagnostic tool in differentiating myelodysplastic syndrome from non-clonal cytopenias in adults. Here, we performed the first comprehensive flow cytometric analysis of immature myeloid, lymphoid cells and erythroid cells, and granulocytes, monocytes, and lymphoid cells in bone marrow obtained from a large prospective cohort of 81 children with refractory cytopenia. Children with refractory cyotopenia had a strongly reduced myeloid compartment, but not as severe as children with aplastic anemia. Furthermore, the number of flow cytometric abnormalities was significantly higher in children with refractory cytopenia than in healthy controls and in children with aplastic anemia, but lower than in advanced myelodysplastic syndrome. We conclude that flow cytometric immunophenotyping could be a relevant addition to histopathology in the diagnosis of refractory cytopenia of childhood. (The multi-center studies EWOG-MDS RC06 and EWOG-MDS 2006 are registered at clinicaltrials.gov identifiers 00499070 and 00662090, respectively).
authors.affiliation: Department of Immunology, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands Department of Pediatric Oncology/Hematology, Sophia Children's Hospital - Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Anna M
authors.initials: AM
authors.lastname: Aalbers
authors.affiliation: Department of Pediatric Oncology/Hematology, Sophia Children's Hospital - Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Marry M
authors.initials: MM
authors.lastname: van den Heuvel-Eibrink
authors.affiliation: Department of Pathology, Clinical Centre South West, Böblingen Clinics, Germany.
authors.forename: Irith
authors.initials: I
authors.lastname: Baumann
authors.affiliation: St. Anna Children's Hospital and Children's Cancer Research Institute, Department of Pediatrics, Medical University of Vienna, Austria.
authors.forename: Michael
authors.initials: M
authors.lastname: Dworzak
authors.affiliation: Department of Pediatrics, Aarhus University Hospital Skejby, Aarhus, Denmark.
authors.forename: Henrik
authors.initials: H
authors.lastname: Hasle
authors.affiliation: Department of Pediatric Hematology-Oncology, IRCCS Ospedale Bambino Gesù, Rome, University of Pavia, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
authors.affiliation: Department of Pediatric Hematology/Oncology, Ghent University Hospital, Ghent, Belgium.
authors.forename: Barbara
authors.initials: B
authors.lastname: De Moerloose
authors.affiliation: Department of Hematology, University Children's Hospital, Zurich, Switzerland.
authors.forename: Markus
authors.initials: M
authors.lastname: Schmugge
authors.affiliation: Department of Pediatric Hematology/Oncology, Charles University and University Hospital Motol, Prague, Czech Republic.
authors.forename: Ester
authors.initials: E
authors.lastname: Mejstrikova
authors.affiliation: Department of Pediatric Hematology/Oncology, Charles University and University Hospital Motol, Prague, Czech Republic.
authors.forename: Michaela
authors.initials: M
authors.lastname: Nováková
authors.affiliation: Pediatric Hematology, Fondazione IRCCS Policlinico San Matteo, Pavia, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Zecca
authors.affiliation: Department of Pediatric Oncology/Hematology, Sophia Children's Hospital - Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: C Michel
authors.initials: CM
authors.lastname: Zwaan
authors.affiliation: Department of Immunology, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Jeroen G
authors.initials: JG
authors.lastname: Te Marvelde
authors.affiliation: Department of Immunology, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Anton W
authors.initials: AW
authors.lastname: Langerak
authors.affiliation: Department of Immunology, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Jacques J M
authors.initials: JJ
authors.lastname: van Dongen
authors.affiliation: Department of Pediatric Oncology/Hematology, Sophia Children's Hospital - Erasmus University Medical Center, Rotterdam, The Netherlands.
authors.forename: Rob
authors.initials: R
authors.lastname: Pieters
authors.affiliation: Department of Pediatrics and Adolescent Medicine, Division of Pediatric Hematology and Oncology, University of Freiburg, Germany.
authors.forename: Charlotte M
authors.initials: CM
authors.lastname: Niemeyer
authors.affiliation: Department of Immunology, Erasmus MC, Erasmus University Medical Center, Rotterdam, The Netherlands v.h.j.vandervelden@erasmusmc.nl.
authors.forename: Vincent H J
authors.initials: VH
authors.lastname: van der Velden
mesh_terms: D000293:Adolescent; D000741:Anemia, Aplastic / Q000175:diagnosis* / Q000276:immunology / Q000473:pathology; D015703:Antigens, CD / Q000276:immunology; D001853:Bone Marrow / Q000276:immunology* / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D003937:Diagnosis, Differential; D041905:Erythroid Cells / Q000276:immunology / Q000473:pathology; D005260:Female; D005434:Flow Cytometry; D006098:Granulocytes / Q000276:immunology / Q000473:pathology; D006801:Humans; D016130:Immunophenotyping; D007223:Infant; D008214:Lymphocytes / Q000276:immunology / Q000473:pathology; D009000:Monocytes / Q000276:immunology / Q000473:pathology; D009190:Myelodysplastic Syndromes / Q000175:diagnosis* / Q000276:immunology / Q000473:pathology; D010198:Pancytopenia / Q000175:diagnosis* / Q000276:immunology / Q000473:pathology; D012720:Severity of Illness Index
chemical_list: D015703:Antigens, CD