Annals of Hematology

, Volume 91, Issue 2, pp 203–213

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

Authors

    • Laboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-Godinne
    • Department of Pharmacy, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), FUNDPUniversity of Namur
  • Sylvie Daliphard
    • Laboratory of HematologyCHU Robert Debré
  • Richard Garand
    • Laboratory of HematologyCHU Nantes
  • Mélanie Dekeyser
    • Laboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-Godinne
  • Yvan Cornet
    • Laboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-Godinne
  • Isabelle Luquet
    • Laboratory of Hematology and Cytogenetics, Hôpital Robert DebréCHU Reims
  • Pascaline Talmant
    • Unit of Hematological CytogeneticsCHU Nantes
  • Steven Richebourg
    • Unit of Hematological CytogeneticsCHU Nantes
  • Mauricette Jamar
    • Laboratory of Cytogenetics, Human Genetic DepartmentCHU Liège
  • Jean-Michel Dogné
    • Department of Pharmacy, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), FUNDPUniversity of Namur
  • Christian Chatelain
    • Clinical HematologyNamur Thrombosis and Hemostasis Center (NTHC), UCL Mont-Godinne
  • Lucienne Michaux
    • Center for Human GeneticsKULeuven
  • Bernard Chatelain
    • Laboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-Godinne
Original Article

DOI: 10.1007/s00277-011-1286-0

Cite this article as:
Mullier, F., Daliphard, S., Garand, R. et al. Ann Hematol (2012) 91: 203. doi:10.1007/s00277-011-1286-0

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 syndromeMorphologySurvival

Supplementary material

277_2011_1286_MOESM1_ESM.tif (134 kb)
High-resolution image (TIFF 134 kb)

Copyright information

© Springer-Verlag 2011