title: Identification of the NUP98-PHF23 fusion gene in pediatric cytogenetically normal acute myeloid leukemia by whole-transcriptome sequencing.
abstract: The genomic landscape of children with acute myeloid leukemia (AML) who do not carry any cytogenetic abnormality (CN-AML) is particularly heterogeneous and challenging, being characterized by different clinical outcomes. To provide new genetic insights into this AML subset, we analyzed through RNA-seq 13 pediatric CN-AML cases, corroborating our findings in an independent cohort of 168 AML patients enrolled in the AIEOP AML 2002/01 study. We identified a chimeric transcript involving NUP98 and PHF23, resulting from a cryptic t(11;17)(p15;p13) translocation, demonstrating, for the first time, that NUP98-PHF23 is a novel recurrent (2.6%) abnormality in pediatric CN-AML.
authors.affiliation: Department of Pediatrics, "Lalla Seràgnoli" Hematology-Oncology Unit, University of Bologna, Bologna, Italy.
authors.forename: Marco
authors.initials: M
authors.lastname: Togni
authors.affiliation: Department of Pediatrics, "Lalla Seràgnoli" Hematology-Oncology Unit, University of Bologna, Bologna, Italy. riccardo.masetti@gmail.com.
authors.forename: Riccardo
authors.initials: R
authors.lastname: Masetti
authors.affiliation: Department of Paediatric Haematology, University of Padova, Padova, Italy.
authors.forename: Martina
authors.initials: M
authors.lastname: Pigazzi
authors.affiliation: Giorgio Prodi Cancer Research Centre, University of Bologna, Bologna, Italy.
authors.forename: Annalisa
authors.initials: A
authors.lastname: Astolfi
authors.affiliation: Department of Pediatrics, "Lalla Seràgnoli" Hematology-Oncology Unit, University of Bologna, Bologna, Italy.
authors.forename: Daniele
authors.initials: D
authors.lastname: Zama
authors.affiliation: Giorgio Prodi Cancer Research Centre, University of Bologna, Bologna, Italy.
authors.forename: Valentina
authors.initials: V
authors.lastname: Indio
authors.affiliation: Department of Pediatrics, "Lalla Seràgnoli" Hematology-Oncology Unit, University of Bologna, Bologna, Italy.
authors.forename: Salvatore
authors.initials: S
authors.lastname: Serravalle
authors.affiliation: Department of Paediatric Haematology, University of Padova, Padova, Italy.
authors.forename: Elena
authors.initials: E
authors.lastname: Manara
authors.affiliation: Department of Paediatric Haematology, University of Padova, Padova, Italy.
authors.forename: Valeria
authors.initials: V
authors.lastname: Bisio
authors.affiliation: Department of Pediatrics, San Gerardo Hospital, University of Milano-Bicocca, Monza, Italy.
authors.forename: Carmelo
authors.initials: C
authors.lastname: Rizzari
authors.affiliation: Department of Paediatric Haematology, University of Padova, Padova, Italy.
authors.forename: Giuseppe
authors.initials: G
authors.lastname: Basso
authors.affiliation: Department of Pediatrics, "Lalla Seràgnoli" Hematology-Oncology Unit, University of Bologna, Bologna, Italy.
authors.forename: Andrea
authors.initials: A
authors.lastname: Pession
authors.affiliation: Department of Pediatric Hematology-Oncology, IRCCS Ospedale Bambino Gesù, Roma - University of Pavia, Pavia, Italy.
authors.forename: Franco
authors.initials: F
authors.lastname: Locatelli
mesh_terms: D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D003582:Cytogenetics / Q000379:methods*; D005260:Female; D050939:Gene Fusion; D006801:Humans; D015470:Leukemia, Myeloid, Acute / Q000235:genetics*; D008297:Male; D059467:Transcriptome / Q000235:genetics*; D014178:Translocation, Genetic