title: Morphology, cytogenetics, and survival in myelodysplasia with del(20q) or ider(20q): a multicenter study.
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.
authors: Laboratory of Hematology, Namur Thrombosis and Hemostasis Center (NTHC), Namur Research Institute for LIfe Sciences (NARILIS), UCL Mont-Godinne, Avenue Gaston Therasse 1, 5530, Yvoir, Belgium. mullierfrancois@gmail.com
authors: François
authors: F
authors: Mullier
authors: Sylvie
authors: S
authors: Daliphard
authors: Richard
authors: R
authors: Garand
authors: Mélanie
authors: M
authors: Dekeyser
authors: Yvan
authors: Y
authors: Cornet
authors: Isabelle
authors: I
authors: Luquet
authors: Pascaline
authors: P
authors: Talmant
authors: Steven
authors: S
authors: Richebourg
authors: Mauricette
authors: M
authors: Jamar
authors: Jean-Michel
authors: JM
authors: Dogné
authors: Christian
authors: C
authors: Chatelain
authors: Lucienne
authors: L
authors: Michaux
authors: Bernard
authors: B
authors: Chatelain
mesh_terms: D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001773:Blood Cells / Q000166:cytology / Q000502:physiology; D001854:Bone Marrow Cells / Q000166:cytology / Q000502:physiology; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20 / Q000235:genetics; D015331:Cohort Studies; D003582:Cytogenetics / Q000379:methods*; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D018404:Isochromosomes / Q000235:genetics; D059785:Karyotype; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000097:blood* / Q000235:genetics* / Q000401:mortality*; D012189:Retrospective Studies; D012680:Sensitivity and Specificity