title: Inv(11)(p15q22)/NUP98-DDX10 fusion and isoforms in a new case of de novo acute myeloid leukemia.
abstract: We set up a diagnostic double-color double-fusion fluorescence in situ hybridization (DCDF-FISH) assay to investigate a case of a de novo acute myeloid leukemia (AML)-M4 bearing an inv(11)(p15q22). DCDF-FISH detected the NUP98-DDX10 rearrangement as two fusion signals, at the short and the long arms of the inv(11). Reverse transcription-polymerase chain reaction (RT-PCR) and cloning experiments confirmed the NUP98-DDX10 fusion and identified two splicing fusion isoforms: the known "type II fusion," originating from the fusion of NUP98 exon 14 to DDX10 exon 7 and a new in-frame fusion transcript between NUP98 exon 15 and DDX10 exon 7, which we termed "type III fusion."
authors.affiliation: Hematology and Bone Marrow Transplantation Unit, University of Perugia, Perugia, Italy.
authors.forename: Paolo
authors.initials: P
authors.lastname: Gorello
authors.forename: Valeria
authors.initials: V
authors.lastname: Nofrini
authors.forename: Lucia
authors.initials: L
authors.lastname: Brandimarte
authors.forename: Valentina
authors.initials: V
authors.lastname: Pierini
authors.forename: Barbara
authors.initials: B
authors.lastname: Crescenzi
authors.forename: Filomena
authors.initials: F
authors.lastname: Nozza
authors.forename: Giulia
authors.initials: G
authors.lastname: Daniele
authors.forename: Clelia Tiziana
authors.initials: CT
authors.lastname: Storlazzi
authors.forename: Danika
authors.initials: D
authors.lastname: Di Giacomo
authors.forename: Caterina
authors.initials: C
authors.lastname: Matteucci
authors.forename: Roberta
authors.initials: R
authors.lastname: La Starza
authors.forename: Cristina
authors.initials: C
authors.lastname: Mecucci
mesh_terms: D000208:Acute Disease; D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002880:Chromosomes, Human, Pair 11 / Q000235:genetics*; D053487:DEAD-box RNA Helicases / Q000235:genetics*; D005091:Exons / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods; D059785:Karyotype; D007951:Leukemia, Myeloid / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D015514:Oncogene Proteins, Fusion / Q000235:genetics*; D020033:Protein Isoforms / Q000235:genetics; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014158:Transcription, Genetic
chemical_list: D028861:Nuclear Pore Complex Proteins; C465451:Nup98 protein, human; D015514:Oncogene Proteins, Fusion; D020033:Protein Isoforms; C499217:DDX10 protein, human; D053487:DEAD-box RNA Helicases