title: Detection of BCR/ABL rearrangements in adult acute lymphoblastic leukemia using a highly sensitive interphase fluorescence in situ hybridization method (D-FISH).
abstract: BACKGROUND
  One hundred-and-six adult cases of acute lymphoblastic leukemia were prospectively investigated using a highly sensitive interphase fluorescence in situ hybridization assay which utilizes DNA probes that detect a double BCR/ABL fusion signal (D-FISH) in cells carrying the t(9;22) to evaluate the reliability and specificity of this method for the detection of the Ph translocation. The results were compared with those obtained in the same cases by conventional cytogenetics and by reverse-transcription polymerase chain reaction.
  
  
  METHODS
  The study was performed using DNA probes that span the common breakpoints of the t(9;22) translocation and that detect a double BCR/ABL fusion in cells carrying this karyotypic anomaly, one on the abnormal chromosome 9 and one on the Ph chromosome.
  
  
  RESULTS
  Interphase D-FISH detected a high number of rearranged cases (22/106) compared to conventional cytogenetics (15/106) and RT-PCR (21/106).
  
  
  CONCLUSIONS
  Interphase D-FISH emerges as a reliable, fast and relatively inexpensive tool for the detection of BCR/ABL rearrangements in adult ALL patients at diagnosis. It has a sensitivity clearly higher than conventional karyotyping and it may prove also superior to that of RT-PCR in cases with unusual BCR/ABL breakpoints. Our results suggest that D-FISH might be considered as the initial test for the diagnosis of Ph+ adult ALL.
authors.affiliation: Department of Cellular Biotechnologies and Hematology, University 'La Sapienza', Rome, Italy. mancini@bce.med.uniromal.it
authors.forename: M
authors.initials: M
authors.lastname: Mancini
authors.forename: M
authors.initials: M
authors.lastname: Nanni
authors.forename: P
authors.initials: P
authors.lastname: Sirleto
authors.forename: M R
authors.initials: MR
authors.lastname: De Cuia
authors.forename: G L
authors.initials: GL
authors.lastname: Castoldi
authors.forename: D
authors.initials: D
authors.lastname: Cilloni
authors.forename: G
authors.initials: G
authors.lastname: Cimino
authors.forename: C
authors.initials: C
authors.lastname: Mecucci
authors.forename: F
authors.initials: F
authors.lastname: Pane
authors.forename: L
authors.initials: L
authors.lastname: Annino
authors.forename: F
authors.initials: F
authors.lastname: Di Raimondo
authors.forename: A
authors.initials: A
authors.lastname: Santoro
authors.forename: G
authors.initials: G
authors.lastname: Specchia
authors.forename: A
authors.initials: A
authors.lastname: Tedeschi
authors.forename: G
authors.initials: G
authors.lastname: Todeschini
authors.forename: R
authors.initials: R
authors.lastname: Foá
mesh_terms: D000293:Adolescent; D000328:Adult; D020732:Cytogenetic Analysis; D005260:Female; D016044:Fusion Proteins, bcr-abl / Q000032:analysis / Q000235:genetics*; D015321:Gene Rearrangement / Q000235:genetics; D006801:Humans; D017404:In Situ Hybridization, Fluorescence / Q000379:methods* / Q000592:standards; D007399:Interphase; D008297:Male; D008875:Middle Aged; D010677:Philadelphia Chromosome; D054198:Precursor Cell Lymphoblastic Leukemia-Lymphoma / Q000175:diagnosis* / Q000235:genetics; D011446:Prospective Studies; D015203:Reproducibility of Results; D020133:Reverse Transcriptase Polymerase Chain Reaction; D012680:Sensitivity and Specificity; D014178:Translocation, Genetic / Q000235:genetics*
chemical_list: D016044:Fusion Proteins, bcr-abl