PMID- 10870481
OWN - NLM
STAT- MEDLINE
DCOM- 20000706
LR  - 20190921
IS  - 0939-5555 (Print)
IS  - 0939-5555 (Linking)
VI  - 79
IP  - 5
DP  - 2000 May
TI  - The value of interphase fluorescence in situ hybridization for the detection of 
      translocation t(12;21) in childhood acute lymphoblastic leukemia.
PG  - 259-68
AB  - Translocation t(12;21)(p13;q22) is the most frequent cytogenetic abnormality in 
      childhood acute lymphoblastic leukemia (ALL) and is generally associated with 
      favorable prognosis. In this report, we assessed the value of dual-color 
      interphase fluorescence in situ hybridization (FISH) for the detection of 
      t(12;21). Fifty-three patients were screened for ETV6/CBFA2 fusion by means of 
      FISH, using two cosmid probes mapped on ETV6 and on CBFA2, respectively. The 
      cut-off value (mean + three standard deviations) for positivity established on 
      control patients was 9.3%. A comparison between FISH and molecular methods 
      [reverse-transcriptase polymerase chain reaction/Southern blot (RT-PCR/SB)] was 
      possible in 52 patients: 34 of 52 (65.4%) showed negative results with both 
      approaches, and 13 of 52 (25%) were positive; 5 of 52 (9.6%) showed 
      discrepancies: four patients who were positive using RT-PCR/SB were negative 
      using FISH. Conversely, one patient negative when using RT-PCR/SB was positive 
      with FISH. Further investigations on this patients, cytogenetically characterized 
      by add(12p), showed an atypical breakpoint on ETV6, located 5' to the common 
      breakpoint. Compared with RT-PCR and SB, dual-color interphase FISH with the 
      cosmid probe set proved to be highly specific but showed limited sensitivity.
FAU - Ameye, G
AU  - Ameye G
AD  - Center for Human Genetics UCL, Cliniques Universitaires St Luc UCL, Brussels, 
      Belgium.
FAU - Jacquy, C
AU  - Jacquy C
FAU - Zenebergh, A
AU  - Zenebergh A
FAU - Stul, M
AU  - Stul M
FAU - Vaerman, J L
AU  - Vaerman JL
FAU - Bilhou-Nabera, C
AU  - Bilhou-Nabera C
FAU - Libouton, J M
AU  - Libouton JM
FAU - Deneys, V
AU  - Deneys V
FAU - Martiat, P
AU  - Martiat P
FAU - Hagemeijer, A
AU  - Hagemeijer A
FAU - Cornu, G
AU  - Cornu G
FAU - Verellen-Dumoulin, C
AU  - Verellen-Dumoulin C
FAU - Michaux, L
AU  - Michaux L
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - Germany
TA  - Ann Hematol
JT  - Annals of hematology
JID - 9107334
SB  - IM
MH  - Blotting, Southern
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 21
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Interphase
MH  - Leukocyte Count
MH  - Male
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - *Translocation, Genetic
EDAT- 2000/06/28 11:00
MHDA- 2000/07/08 11:00
CRDT- 2000/06/28 11:00
PHST- 2000/06/28 11:00 [pubmed]
PHST- 2000/07/08 11:00 [medline]
PHST- 2000/06/28 11:00 [entrez]
AID - 10.1007/s002770050590 [doi]
PST - ppublish
SO  - Ann Hematol. 2000 May;79(5):259-68. doi: 10.1007/s002770050590.