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

  • François Mullier
  • Sylvie Daliphard
  • Richard Garand
  • Mélanie Dekeyser
  • Yvan Cornet
  • Isabelle Luquet
  • Pascaline Talmant
  • Steven Richebourg
  • Mauricette Jamar
  • Jean-Michel Dogné
  • Christian Chatelain
  • Lucienne Michaux
  • Bernard Chatelain
Original Article

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 

Supplementary material

277_2011_1286_Fig4_ESM.jpg (23 kb)
Fig. 4

Overall survival in MDS with del(20q) (black) or ider(20q) (grey). 95% confidence interval for the survival curves are showed in thinner lines. The two survival curves did not differ significantly as the logrank showed a chi-square statistic of 0.79 with associated p-value (p) of 0.37. The hazards were not statistically different since the hazard ratio was 0.60 (0.19–1.86) (JPEG 22 kb)

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

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Copyright information

© Springer-Verlag 2011

Authors and Affiliations

  • François Mullier
    • 1
    • 2
  • Sylvie Daliphard
    • 3
  • Richard Garand
    • 4
  • Mélanie Dekeyser
    • 1
  • Yvan Cornet
    • 1
  • Isabelle Luquet
    • 5
  • Pascaline Talmant
    • 6
  • Steven Richebourg
    • 6
  • Mauricette Jamar
    • 7
  • Jean-Michel Dogné
    • 2
  • Christian Chatelain
    • 8
  • Lucienne Michaux
    • 9
  • Bernard Chatelain
    • 1
  1. 1.Laboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-GodinneYvoirBelgium
  2. 2.Department of Pharmacy, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), FUNDPUniversity of NamurNamurBelgium
  3. 3.Laboratory of HematologyCHU Robert DebréReimsFrance
  4. 4.Laboratory of HematologyCHU NantesNantesFrance
  5. 5.Laboratory of Hematology and Cytogenetics, Hôpital Robert DebréCHU ReimsReimsFrance
  6. 6.Unit of Hematological CytogeneticsCHU NantesNantesFrance
  7. 7.Laboratory of Cytogenetics, Human Genetic DepartmentCHU LiègeLiègeBelgium
  8. 8.Clinical HematologyNamur Thrombosis and Hemostasis Center (NTHC), UCL Mont-GodinneMont-GodinneBelgium
  9. 9.Center for Human GeneticsKULeuvenLeuvenBelgium

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