Isoderivative of deleted chromosome 20 in primary myelofibrosis (PMF) characterized by molecular cytogenetics and array CGH

Douet‐Guilbert, Nathalie; Andrieux, Joris; Laı̈, Jean-Luc; Morice, Patrick; Demory, Jean-Loup; Basinko, Audrey; Ugo, Valérie; Guéganic, Nadia; Bris, M.-J. Le; Morel, Frédéric; Braekeleer, Marc De

doi:10.1007/s00277-009-0753-3

Cited by 3 publications

(2 citation statements)

References 8 publications

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“…About 40 cases with this rearrangement have been reported up to 2012 (reviewed by Mullier et al , ). Molecular cytogenetic and array techniques have been used for mapping of the deleted region on 20q (Douet‐Guilbert et al , ). The proximal breakpoints are consistently located in the 20q11.21 band, and the distal breakpoints span from band 20q13.13 to band 20q13.33.…”

Section: Results Of Fluorescence In Situ Hybridization With Subtelomementioning

confidence: 99%

Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome

et al. 2013

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Section: Results Of Fluorescence In Situ Hybridization With Subtelomementioning

confidence: 99%

Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome

et al. 2013

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“…Plusieurs hypothèses ont été proposées pour expliquer le pronostic potentiellement mauvais chez les patients SMD porteurs de cette aberration [2,27,37] : une nouvelle fusion impliquant le gêne additional sex combs like 1 (ASXL1), une perte des gênes suppresseurs de tumeurs dans la région commune supprimée sur 20p (CDR2) et une possible surexpression de gênes sur la région commune dupliquée conservée sur 20q (CRR1 et CRR2) (common retained region). De plus, un des gênes candidats dans CRR1 est HCK qui pourrait être en lien avec les observations morphologiques présentes dans l'étude.…”

Section: Discussionunclassified

L’association des neutrophiles hypogranulaires et vacuolisés à l’érythrophagocytose par les neutrophiles est un marqueur utile dans les syndromes myélodysplasiques avec del(20q) ou ider(20q) : une étude multicentrique

Mullier

Daliphard

Garand

et al. 2012

Immuno-analyse & Biologie Spécialisée

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

et al. 2011

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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.

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Isoderivative of deleted chromosome 20 in primary myelofibrosis (PMF) characterized by molecular cytogenetics and array CGH

Abstract: International audienc

Cited by 3 publications

References 8 publications

Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome

Fusion of the additional sex combs like 1 and teashirt zinc finger homeobox 2 genes resulting from ider(20q) aberration in a patient with myelodysplastic syndrome

L’association des neutrophiles hypogranulaires et vacuolisés à l’érythrophagocytose par les neutrophiles est un marqueur utile dans les syndromes myélodysplasiques avec del(20q) ou ider(20q) : une étude multicentrique

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

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