title: Alteration of the SETBP1 gene and splicing pathway genes SF3B1, U2AF1, and SRSF2 in childhood acute myeloid leukemia.
abstract: BACKGROUND
  Recurrent somatic SET-binding protein 1 (SETBP1) and splicing pathway gene mutations have recently been found in atypical chronic myeloid leukemia and other hematologic malignancies. These mutations have been comprehensively analyzed in adult AML, but not in childhood AML. We investigated possible alteration of the SETBP1, splicing factor 3B subunit 1 (SF3B1), U2 small nuclear RNA auxiliary factor 1 (U2AF1), and serine/arginine-rich splicing factor 2 (SRSF2) genes in childhood AML.
  
  
  METHODS
  Cytogenetic and molecular analyses were performed to reveal chromosomal and genetic alterations. Sequence alterations in the SETBP1, SF3B1, U2AF1, and SRSF2 genes were examined by using direct sequencing in a cohort of 53 childhood AML patients.
  
  
  RESULTS
  Childhood AML patients did not harbor any recurrent SETBP1 gene mutations, although our study did identify a synonymous mutation in one patient. None of the previously reported aberrations in the mutational hotspot of SF3B1, U2AF1, and SRSF2 were identified in any of the 53 patients.
  
  
  CONCLUSIONS
  Alterations of the SETBP1 gene or SF3B1, U2AF1, and SRSF2 genes are not common genetic events in childhood AML, implying that the mutations are unlikely to exert a driver effect in myeloid leukemogenesis during childhood.
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Hyun-Woo
authors.initials: HW
authors.lastname: Choi
authors.affiliation: Brain Korea 21 Plus Project, Chonnam National University Medical School, Gwangju, Korea. ; Laboratory of Metabolism, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA.
authors.forename: Hye-Ran
authors.initials: HR
authors.lastname: Kim
authors.affiliation: Department of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun, Korea. ; Environmental Health Center for Childhood Leukemia and Cancer, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Hee-Jo
authors.initials: HJ
authors.lastname: Baek
authors.affiliation: Department of Pediatrics, Chonnam National University Hwasun Hospital, Hwasun, Korea. ; Environmental Health Center for Childhood Leukemia and Cancer, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Hoon
authors.initials: H
authors.lastname: Kook
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Duck
authors.initials: D
authors.lastname: Cho
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Jong-Hee
authors.initials: JH
authors.lastname: Shin
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Soon-Pal
authors.initials: SP
authors.lastname: Suh
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Dong-Wook
authors.initials: DW
authors.lastname: Ryang
authors.affiliation: Department of Laboratory Medicine, Chonnam National University Hwasun Hospital, Hwasun, Korea. ; Brain Korea 21 Plus Project, Chonnam National University Medical School, Gwangju, Korea. ; Environmental Health Center for Childhood Leukemia and Cancer, Chonnam National University Hwasun Hospital, Hwasun, Korea.
authors.forename: Myung-Geun
authors.initials: MG
authors.lastname: Shin
mesh_terms: D000293:Adolescent; D002352:Carrier Proteins / Q000235:genetics*; D002648:Child; D002675:Child, Preschool; D015331:Cohort Studies; D020732:Cytogenetic Analysis; D004252:DNA Mutational Analysis; D005260:Female; D005787:Gene Frequency; D005838:Genotype; D006801:Humans; D007223:Infant; D015470:Leukemia, Myeloid, Acute / Q000235:genetics* / Q000473:pathology; D008297:Male; D009687:Nuclear Proteins / Q000235:genetics*; D010750:Phosphoproteins / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide; D012326:RNA Splicing; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear / Q000235:genetics*; D012261:Ribonucleoproteins / Q000235:genetics*; D000068103:Serine-Arginine Splicing Factors; D000072668:Splicing Factor U2AF
chemical_list: D002352:Carrier Proteins; D009687:Nuclear Proteins; D010750:Phosphoproteins; D000072260:RNA Splicing Factors; D017413:Ribonucleoprotein, U2 Small Nuclear; D012261:Ribonucleoproteins; C425066:SETBP1 protein, human; C112491:SF3B1 protein, human; D000072668:Splicing Factor U2AF; C076753:U2AF1 protein, human; C073288:SRSF2 protein, human; D000068103:Serine-Arginine Splicing Factors
keywords: AML; Childhood; SETBP1; SF3B1; SRSF2; U2AF1