title: Interphase-FISH screening for eight common rearrangements in pediatric B-cell precursor acute lymphoblastic leukemia.
abstract: BACKGROUND
  This is the first pilot study to screen multiple common genetic aberrations in B-cell precursor acute lymphoblastic leukemia (BCP-ALL).
  
  
  METHODS
  Thirty-two children with BCP-ALL were investigated for chromosomal rearrangements using interphase fluorescence in situ hybridization (FISH). Eight common translocations and rearrangements, including ETV6-RUNX1, TCF3-PBX1, BCR-ABL1, ETV6, TCF3, MLL, IGH@, and PAX5, were tested for using dual-color DNA probes.
  
  
  RESULTS
  ETV6-RUNX1 was the most frequent translocation detected in 11 children (34.4%). Two patients with BCR-ABL1 (6.3%) and one with TCF3-PBX1 (3.1%) translocations were also observed. Using break-apart probes, 11 children (34.4%) had a positive FISH result for ETV6, two patients for IGH@ (6.3%), one patient for MLL (3.1%), and one patient for PAX5 rearrangements (3.1%). All patients with the ETV6-RUNX1 fusion were also identified by split signals for ETV6. Other abnormalities, including extra copies and deletion of genes, were observed within the range of 3.1-34.4%. Cytogenetics analysis showed a single case each of BCR-ABL1 fusion, MLL, and IGH@ rearrangements (3.1% each). ETV6-RUNX1 fusion and ETV6 split-apart rearrangements were not visible by cytogenetics. Likewise, one each of cases with TCF3-PBX1 fusion and with PAX5 split signal seen by FISH was not visible by cytogenetics.
  
  
  CONCLUSIONS
  By using 8 FISH probes in conjunction cytogenetics for the detection of common aberrations, interphase FISH enhanced the detection of chromosomal rearrangements in children with BCP-ALL.
authors.affiliation: Department of Pediatrics, Srinakharinwirot University, Nakorn Nayok, Thailand.
authors.forename: S
authors.initials: S
authors.lastname: Hutspardol
authors.forename: S
authors.initials: S
authors.lastname: Pakakasama
authors.forename: K
authors.initials: K
authors.lastname: Kanta
authors.forename: L
authors.initials: L
authors.lastname: Nuntakarn
authors.forename: U
authors.initials: U
authors.lastname: Anurathapan
authors.forename: N
authors.initials: N
authors.lastname: Sirachainan
authors.forename: D
authors.initials: D
authors.lastname: Songdej
authors.forename: R
authors.initials: R
authors.lastname: Sawangpanich
authors.forename: R
authors.initials: R
authors.lastname: Tiyasirichokchai
authors.forename: B
authors.initials: B
authors.lastname: Rerkamnuaychoke
authors.forename: S
authors.initials: S
authors.lastname: Hongeng
mesh_terms: D000208:Acute Disease; D000293:Adolescent; D001402:B-Lymphocytes / Q000378:metabolism / Q000473:pathology*; D002648:Child; D002675:Child, Preschool; D005260:Female; D005820:Genetic Testing; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000706:statistics & numerical data*; D007223:Infant; D007399:Interphase / Q000235:genetics; D007621:Karyotyping; D008297:Male; D015514:Oncogene Proteins, Fusion / Q000235:genetics* / Q000378:metabolism; D010865:Pilot Projects; D015452:Precursor B-Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics* / Q000473:pathology; D014178:Translocation, Genetic
chemical_list: D015514:Oncogene Proteins, Fusion