title: t(3;11)(q12;p15)/NUP98-LOC348801 fusion transcript in acute myeloid leukemia.
abstract: In a case of acute myeloid leukemia we report molecular cytogenetic findings of a t(3;11)(q12;p15), characterized as a new NUP98 translocation rearranging with LOC348801 at chromosome 3. NUP98 involvement was detected by fluorescence in situ hybridization. 3'-RACE-PCR showed nucleotide 1718 (exon 13) of NUP98 was fused in-frame with nucleotide 1248 (exon 2) of LOC348801. RT-PCR and cloning experiments detected two in-frame spliced NUP98-LOC348801 transcripts and the reciprocal LOC348801-NUP98. A highly specific double-color double-fusion FISH assay reliably detects NUP98-LOC348801.
authors.affiliation: IbiT Foundation, Fondazione IRCCS Biotecnologie nel Trapianto, Hematology, University of Perugia, Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Gorello
authors.forename: Lucia
authors.initials: L
authors.lastname: Brandimarte
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.forename: Loredana
authors.initials: L
authors.lastname: Bury
authors.forename: Roberto
authors.initials: R
authors.lastname: Rosati
authors.forename: Massimo F
authors.initials: MF
authors.lastname: Martelli
authors.forename: Peter
authors.initials: P
authors.lastname: Vandenberghe
authors.forename: Iwona
authors.initials: I
authors.lastname: Wlodarska
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002893:Chromosomes, Human, Pair 3 / Q000235:genetics*; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D011993:Recombinant Fusion Proteins / Q000235:genetics*; D014158:Transcription, Genetic / Q000235:genetics*
chemical_list: D028861:Nuclear Pore Complex Proteins; D011993:Recombinant Fusion Proteins; C093350:nuclear pore complex protein 98