title: Fluorescence in situ hybridization characterization of ider(20q) in myelodysplastic syndrome.
abstract: Isochromosome of the long arm of chromosome 20 with loss of interstitial material [ider(20q)] is a variant of deletion of chromosome 20q and a rare abnormality in myelodysplastic syndrome (MDS). We studied seven cases with an ider(20q) in MDS. Fluorescence in situ hybridization (FISH) studies showed all proximal breakpoints to be consistently located in 20q11.21 band whereas distal breakpoints were variable. Amplification of HCK, TNFRSF6B and DIDO1 genes included in retained regions associated with loss of tumour suppressor genes in deleted regions could explain cell tumour progression and possibly the less favourable prognosis of ider(20q) compared with del(20q).
authors.affiliation: Laboratoire d'Histologie, Embryologie et Cytogénétique, Faculté de Médecine et des Sciences de la Santé, Université de Bretagne Occidentale, Brest, France.
authors.forename: N
authors.initials: N
authors.lastname: Douet-Guilbert
authors.forename: J L
authors.initials: JL
authors.lastname: Laï
authors.forename: A
authors.initials: A
authors.lastname: Basinko
authors.forename: N
authors.initials: N
authors.lastname: Gueganic
authors.forename: J
authors.initials: J
authors.lastname: Andrieux
authors.forename: B
authors.initials: B
authors.lastname: Pollet
authors.forename: I
authors.initials: I
authors.lastname: Plantier
authors.forename: C
authors.initials: C
authors.lastname: Delattre
authors.forename: O
authors.initials: O
authors.lastname: Crépin
authors.forename: S
authors.initials: S
authors.lastname: Corm
authors.forename: M J
authors.initials: MJ
authors.lastname: Le Bris
authors.forename: F
authors.initials: F
authors.lastname: Morel
authors.forename: M
authors.initials: M
authors.lastname: De Braekeleer
mesh_terms: D000369:Aged, 80 and over; D019457:Chromosome Breakage; D002890:Chromosomes, Human, Pair 20; D004268:DNA-Binding Proteins / Q000235:genetics; D005260:Female; D005784:Gene Amplification; D017353:Gene Deletion; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D018404:Isochromosomes; D008297:Male; D008875:Middle Aged; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D051572:Proto-Oncogene Proteins c-hck / Q000235:genetics; D053323:Receptors, Tumor Necrosis Factor, Member 6b / Q000235:genetics
chemical_list: C518584:DIDO1 protein, human; D004268:DNA-Binding Proteins; D053323:Receptors, Tumor Necrosis Factor, Member 6b; C505911:TNFRSF6B protein, human; C496631:HCK protein, human; D051572:Proto-Oncogene Proteins c-hck