title: Multiparameter flow cytometry is instrumental to distinguish myelodysplastic syndromes from non-neoplastic cytopenias.
abstract: Mandatory for the diagnosis of myelodysplastic syndromes (MDS) is the presence of dysplasia in >10% of cells within one or more cell lineages or presence of >15% ring sideroblasts or presence of MDS-associated cytogenetic (CG) abnormalities. Discrimination between neo-plastic and non-neoplastic causes of cytopenias can be challenging when dysplastic features by cytomorphology (CM) are minimal and CG abnormalities are absent or non-discriminating from other myeloid neoplastic disorders. This study evaluated a standard diagnostic approach in 379 patients with unexplained cytopenias and highlights the additional value of flow cytometry (FC) in patients with indeterminate CM and CG. CM reached no clear-cut diagnosis in 44% of the patients. Here, CG was able to identify two additional patients with MDS; other CG results did not reveal abnormalities or were not contributory. Based on the FC results, patients without a diagnosis by CM and CG were categorized 'no MDS-related features' (65%), 'limited number of MDS-related changes' (24%), and 'consistent with MDS' (11%). Patients were followed over time in an attempt to establish or confirm a diagnosis (median follow-up 391 d, range 20-1764). The specificity (true negative) of MDS-FC analysis calculated after follow-up was 95%. FC can aid as a valuable tool to exclude MDS when CM and additional CG are not conclusive in patients with cytopenia.
authors.affiliation: Department of Hematology, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Electronic address: e.cremers@vumc.nl.
authors.forename: Eline M P
authors.initials: EMP
authors.lastname: Cremers
authors.affiliation: Department of Hematology, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Electronic address: tm.westers@vumc.nl.
authors.forename: Theresia M
authors.initials: TM
authors.lastname: Westers
authors.affiliation: Department of Hematology, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Electronic address: c.alhan@vumc.nl.
authors.forename: Canan
authors.initials: C
authors.lastname: Alhan
authors.affiliation: Department of Hematology, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Electronic address: c.cali@vumc.nl.
authors.forename: Claudia
authors.initials: C
authors.lastname: Cali
authors.affiliation: Department of Hematology, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Electronic address: m.wondergem@vumc.nl.
authors.forename: Mariëlle J
authors.initials: MJ
authors.lastname: Wondergem
authors.affiliation: Department of Clinical Genetics, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Electronic address: p.poddighe@vumc.nl.
authors.forename: Pino J
authors.initials: PJ
authors.lastname: Poddighe
authors.affiliation: Department of Hematology, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Electronic address: g.ossenkoppele@vumc.nl.
authors.forename: Gert J
authors.initials: GJ
authors.lastname: Ossenkoppele
authors.affiliation: Department of Hematology, VU University Medical Center, Cancer Center Amsterdam (VUmc CCA), De Boelelaan 1117, 1081 HV Amsterdam, The Netherlands. Electronic address: a.vandeloosdrecht@vumc.nl.
authors.forename: Arjan A
authors.initials: AA
authors.lastname: van de Loosdrecht
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D018952:Antigens, CD34 / Q000032:analysis; D015415:Biomarkers / Q000032:analysis; D001856:Bone Marrow Examination; D003937:Diagnosis, Differential; D005260:Female; D005434:Flow Cytometry / Q000379:methods*; D006801:Humans; D016130:Immunophenotyping / Q000379:methods*; D017493:Leukocyte Common Antigens / Q000032:analysis; D007970:Leukopenia / Q000175:diagnosis* / Q000209:etiology / Q000235:genetics / Q000276:immunology; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000150:complications / Q000175:diagnosis* / Q000235:genetics / Q000276:immunology; D023461:Myeloid Progenitor Cells / Q000276:immunology; D010641:Phenotype; D054448:Precursor Cells, B-Lymphoid / Q000276:immunology; D011237:Predictive Value of Tests; D011379:Prognosis; D012307:Risk Factors; D013997:Time Factors; D055815:Young Adult
chemical_list: D018952:Antigens, CD34; D015415:Biomarkers; D017493:Leukocyte Common Antigens; C516769:PTPRC protein, human
keywords: Cytopenias; Diagnosis; Flow cytometry; Myelodysplastic syndromes