title: Myelodysplastic syndrome with a t(2;11)(p21;q23-24) and translocation breakpoint close to miR-125b-1.
abstract: The upregulation of oncogenes and the formation of fusion genes are commonly observed in hematological malignancies with recurring balanced translocations. However, in some malignancies exhibiting balanced chromosomal rearrangements, neither oncogene deregulation nor generation of fusion genes appears to be involved, suggesting that other mechanisms are at play. In the rare myelodysplastic syndrome (MDS) containing a t(2;11)(p21;q23-24) translocation, breakpoints near a microRNA locus, miR-125b-1, in 11q24 have been suggested to be pathogenetically involved. Here we report the detailed mapping and sequencing of the breakpoint located only 2 kilobases from miR-125b-1 in an MDS patient with a t(2;11)(p21;q23-24).
authors.affiliation: Section for Cancer Cytogenetics, Institute for Medical Informatics, The Norwegian Radium Hospital, Oslo University Hospital, Oslo, Norway. jim.thorsen@rr-research.no
authors.forename: Jim
authors.initials: J
authors.lastname: Thorsen
authors.forename: Hege Vangstein
authors.initials: HV
authors.lastname: Aamot
authors.forename: Roberta
authors.initials: R
authors.lastname: Roberto
authors.forename: Geir E
authors.initials: GE
authors.lastname: Tjønnfjord
authors.forename: Francesca
authors.initials: F
authors.lastname: Micci
authors.forename: Sverre
authors.initials: S
authors.lastname: Heim
mesh_terms: D000368:Aged; D002871:Chromosome Banding; D002874:Chromosome Mapping; D022202:Chromosomes, Artificial, Bacterial; D002880:Chromosomes, Human, Pair 11; D002889:Chromosomes, Human, Pair 2; D055028:Comparative Genomic Hybridization; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D007621:Karyotyping; D008297:Male; D035683:MicroRNAs / Q000235:genetics*; D009190:Myelodysplastic Syndromes / Q000235:genetics*; D014178:Translocation, Genetic
chemical_list: C509207:MIRN124 microRNA, human; D035683:MicroRNAs