PMID- 11886378
OWN - NLM
STAT- MEDLINE
DCOM- 20020419
LR  - 20190705
IS  - 0007-1048 (Print)
IS  - 0007-1048 (Linking)
VI  - 116
IP  - 4
DP  - 2002 Mar
TI  - A highly specific and sensitive fluorescence in situ hybridization assay for the 
      detection of t(4;11)(q21;q23) and concurrent submicroscopic deletions in acute 
      leukaemias.
PG  - 758-64
AB  - The translocation t(4;11)(q21;q23) is one of the most frequent 11q23 
      abnormalities associated with infant leukaemia as well as topoisomerase 
      inhibitor-induced secondary leukaemias. On the molecular level, the MLL gene on 
      11q23 is fused to the AF4 gene in the 4q21 region, resulting in a chimaeric 
      MLL/AF4 fusion transcript. These particular chromosome rearrangements are 
      generally considered to be associated with poor prognosis, and therefore accurate 
      detection at diagnosis is of clinical significance. In this study we developed a 
      highly specific dual-colour fluorescence in situ hybridization (FISH) assay for 
      the detection of the t(4;11) and demonstrate its usefulness for interphase 
      molecular cytogenetics. In our approach, differentially labelled genomic clones 
      that span the breakpoint cluster regions of both genes involved in the specific 
      translocation were used. Thus, t(4;11)-positive nuclei will display two fusion 
      signals and for t(4;11) cases with concurrent 3' MLL deletions only one fusion 
      signal will be displayed. A very low false-positive value of less than 0.1% was 
      obtained for interphase cells with two fusion signals. In contrast, in cases with 
      3' MLL deletions that display only one fusion signal, the rate of false-positive 
      nuclei was 10.4%. This FISH assay enables the screening of larger series of 
      patients with haematological diseases for t(4;11) translocations and allows the 
      unambiguous detection of associated cryptic deletions.
FAU - Konig, Margit
AU  - Konig M
AD  - Children's Cancer Research Institute (CCRI), St. Anna Kinderspital, Vienna, 
      Austria.
FAU - Reichel, Martin
AU  - Reichel M
FAU - Marschalek, Rolf
AU  - Marschalek R
FAU - Haas, Oskar A
AU  - Haas OA
FAU - Strehl, Sabine
AU  - Strehl S
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PL  - England
TA  - Br J Haematol
JT  - British journal of haematology
JID - 0372544
RN  - 0 (MLL-AF4 fusion protein, human)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 149025-06-9 (Myeloid-Lymphoid Leukemia Protein)
SB  - IM
MH  - 3' Flanking Region
MH  - Adolescent
MH  - Child
MH  - Child, Preschool
MH  - *Chromosomes, Human, Pair 11
MH  - *Chromosomes, Human, Pair 4
MH  - Cytogenetic Analysis
MH  - Female
MH  - Gene Deletion
MH  - Humans
MH  - *In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Interphase
MH  - Male
MH  - Metaphase
MH  - Myeloid-Lymphoid Leukemia Protein
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/*diagnosis/genetics
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - *Translocation, Genetic
EDAT- 2002/03/12 10:00
MHDA- 2002/04/20 10:01
CRDT- 2002/03/12 10:00
PHST- 2002/03/12 10:00 [pubmed]
PHST- 2002/04/20 10:01 [medline]
PHST- 2002/03/12 10:00 [entrez]
AID - 3340 [pii]
AID - 10.1046/j.0007-1048.2002.03340.x [doi]
PST - ppublish
SO  - Br J Haematol. 2002 Mar;116(4):758-64. doi: 10.1046/j.0007-1048.2002.03340.x.