title: t(9;11)(p22;p15) with NUP98-LEDGF fusion gene in pediatric acute myeloid leukemia.
abstract: The rare t(9;11)(p22;p15) translocation is associated with adult acute myeloid leukemia (AML) with immature forms. We report a novel fusion of the NUP98 and LEDGF genes in a pediatric AML with intermediate characteristics between M2-M3 French-American-British (FAB) subtypes exhibiting the same chromosomal rearrangement. Fluorescence in situ hybridization (FISH) and reverse transcriptase-PCR (RT-PCR) studies identified the chimeric transcript product of in-frame fusion of NUP98 exon 8 to LEDGF exon 4.
authors.affiliation: Dipartimento di Ematologia ed Oncologia Pediatrica, Istituto Giannina Gaslini, L.go G. Gaslini 5, 16147 Genova, Italy.
authors.forename: Cristina
authors.initials: C
authors.lastname: Morerio
authors.forename: Maura
authors.initials: M
authors.lastname: Acquila
authors.forename: Cristina
authors.initials: C
authors.lastname: Rosanda
authors.forename: Annamaria
authors.initials: A
authors.lastname: Rapella
authors.forename: Elisa
authors.initials: E
authors.lastname: Tassano
authors.forename: Concetta
authors.initials: C
authors.lastname: Micalizzi
authors.forename: Claudio
authors.initials: C
authors.lastname: Panarello
mesh_terms: D019677:Artificial Gene Fusion; D002675:Child, Preschool; D002874:Chromosome Mapping; D002880:Chromosomes, Human, Pair 11; D002892:Chromosomes, Human, Pair 22; D005260:Female; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D036341:Intercellular Signaling Peptides and Proteins / Q000235:genetics*; D007621:Karyotyping; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D020133:Reverse Transcriptase Polymerase Chain Reaction; D014178:Translocation, Genetic
chemical_list: D036341:Intercellular Signaling Peptides and Proteins; D028861:Nuclear Pore Complex Proteins; C465451:Nup98 protein, human; C119380:lens epithelium-derived growth factor