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.

The DREAM complex: master coordinator of cell cycle-dependent gene expression

“…Mice haplo-insufficient for Mybl2 develop a variety of myeloid disorders including a myelodysplastic syndrome (MDS) and myeloid leukaemia 102, 103 . MYBL2 is present in the 20q locus that is frequently deleted in human MDS 104, 105 . Although the precise mechanism by which low levels of BMYB expression translates into abnormal myeloid cell proliferation is unclear, it is likely to involve BMYB's role in regulating cell cycle dependent gene expression.…”

Investigation of 305 patients with myelodysplastic syndromes and 20q deletion for associated cytogenetic and molecular genetic lesions and their prognostic impact

“…Prognosis of MDS patients with an ider(20q) remains controversial. In some reports, a low complete remission rate and a high mortality rate were described for these patients (Li et al , ), whereas others described rather indolent courses (Ligon et al , ) and found no significant differences in the outcomes of patients with an ider(20q) as compared to patients with del(20q) (Mullier et al , ).…”

Overwhelming Paroxysmal Nocturnal Haemoglobinuria in a Patient with Low-Risk Myelodysplastic Syndrome and Long-Term Anticoagulation for Sick Sinus Syndrome

“…GPI anchor protein-deficient cells have been detected in some cases of myelodysplastic syndrome, especially when associated with a hypocellular marrow [2] as in our patient, where bone marrow aspiration and bone marrow biopsy were diagnostic of MDS using standard criteria and where cytogenetics showed an interstitial deletion of the long arm of chromosome 20. This deletion is usually classified in the good-prognosis MDS category with a median overall survival > 5 years [10]. CBCs were stable during 2 years without any transfusion needs.…”