Original Article

Annals of Hematology

, Volume 91, Issue 2, pp 203-213

First online:

Morphology, cytogenetics, and survival in myelodysplasia with del(20q) or ider(20q): a multicenter study

  • François MullierAffiliated withLaboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-GodinneDepartment of Pharmacy, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), FUNDP, University of Namur Email author 
  • , Sylvie DaliphardAffiliated withLaboratory of Hematology, CHU Robert Debré
  • , Richard GarandAffiliated withLaboratory of Hematology, CHU Nantes
  • , Mélanie DekeyserAffiliated withLaboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-Godinne
  • , Yvan CornetAffiliated withLaboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-Godinne
  • , Isabelle LuquetAffiliated withLaboratory of Hematology and Cytogenetics, Hôpital Robert Debré, CHU Reims
  • , Pascaline TalmantAffiliated withUnit of Hematological Cytogenetics, CHU Nantes
  • , Steven RichebourgAffiliated withUnit of Hematological Cytogenetics, CHU Nantes
  • , Mauricette JamarAffiliated withLaboratory of Cytogenetics, Human Genetic Department, CHU Liège
    • , Jean-Michel DognéAffiliated withDepartment of Pharmacy, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), FUNDP, University of Namur
    • , Christian ChatelainAffiliated withClinical Hematology, Namur Thrombosis and Hemostasis Center (NTHC), UCL Mont-Godinne
    • , Lucienne MichauxAffiliated withCenter for Human Genetics, KULeuven
    • , Bernard ChatelainAffiliated withLaboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-Godinne

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Abstract

Isochromosome of the long arm of chromosome 20 with interstitial loss of material [ider(20q)] is a rare cytogenetic abnormality reported in myelodysplastic syndrome (MDS), with neither specific morphological pattern nor clear prognostic significance. The aim of this retrospective multicentric study is to compare the peripheral blood and bone marrow morphology of MDS patients with ider(20q) (n = 13) and del(20q) (n = 21) and controls (n = 47) in order to investigate whether the ider(20q) harbors specific morphological features. The secondary objective is to compare the outcome of patients from both groups. This study performed on the largest cohort of MDS patients with ider(20q) is the first that identifies specific morphological features (hypogranulated and vacuolized neutrophils and neutrophil erythrophagocytosis) allowing the identification of this cytogenetic abnormality with high sensitivity (70%) and specificity (85.7%). Suspected ider(20q) by morphology should therefore support targeted FISH tests in case of non informative karyotype. This combined approach will allow a better estimation of the prevalence of this underdiagnozed entity. The overall survival and progression-free survival did not statistically differ in both groups. However, hypogranulated and vacuolized neutrophils were significantly associated with survival.

Keywords

ider(20q) del(20q) Myelodysplastic syndrome Morphology Survival