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

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Mullier, François [UCL] Daliphard, Sylvie Garand, Richard Dekeyser, Mélanie [UCL] Cornet, Yvan [UCL] Chatelain, Christian [UCL] Chatelain, Bernard [UCL]

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.

Document type Article de périodique (Journal article) – Article de recherche
Access type Accès restreint
Publication date 2012
Language Anglais
Journal information "Annals of Hematology" - Vol. 91, no. 2, p. 203-213 (2012)
Peer reviewed yes
Publisher Springer ((Germany) Heidelberg)
issn 0939-5555
e-issn 1432-0584
Publication status Publié
Affiliations UCL - SSS/IREC/MONT - Pôle Mont Godinne
UCL - SSS/IREC/MIRO - Pôle d'imagerie moléculaire, radiothérapie et oncologie
UCL - (MGD) Laboratoire de biologie clinique
UCL - (MGD) Service d'hématologie
UCL - (SLuc) Service d'hématologie
MESH Subject Adult ; Cytogenetics ; Female ; Humans ; In Situ Hybridization, Fluorescence ; Isochromosomes ; Karyotype ; Male ; Middle Aged ; Myelodysplastic Syndromes ; Retrospective Studies ; Aged ; Sensitivity and Specificity ; Aged, 80 and over ; Blood Cells ; Bone Marrow Cells ; Chromosome Aberrations ; Chromosome Deletion ; Chromosomes, Human, Pair 20 ; Cohort Studies
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Bibliographic reference Mullier, François ; Daliphard, Sylvie ; Garand, Richard ; Dekeyser, Mélanie ; Cornet, Yvan ; et. al. Morphology, cytogenetics, and survival in myelodysplasia with del(20q) or ider(20q): a multicenter study. In: Annals of Hematology, Vol. 91, no. 2, p. 203-213 (2012)
Permanent URL http://hdl.handle.net/2078.1/123911