PMID- 15194534
OWN - NLM
STAT- MEDLINE
DCOM- 20060310
LR  - 20161124
IS  - 1592-8721 (Electronic)
IS  - 0390-6078 (Linking)
VI  - 89
IP  - 6
DP  - 2004 Jun
TI  - Two dual-color split signal fluorescence in situ hybridization assays to detect 
      t(5;14) involving HOX11L2 or CSX in T-cell acute lymphoblastic leukemia.
PG  - 671-8
AB  - BACKGROUND AND OBJECTIVES: The t(5;14)(q35;q32) is a novel cryptic translocation 
      in pediatric T-cell acute lymphoblastic leukemia (T-ALL), involving HOX11L2 or 
      CSX on 5q35. The 14q32 breakpoints are heterogeneous. Because the 
      t(5;14)(q35;q32) is hard to detect using conventional karyotyping, it is easily 
      missed in routine diagnostics. Here we describe the development and application 
      of split signal fluorescence in situ hybridization (FISH) assays for both HOX11L2 
      and CSX, for detection of t(5;14) possibly present in T-ALL patients. DESIGN AND 
      METHODS: We developed and validated two split signal FISH assays for metaphase 
      and interphase detection of t(5;14) in T-ALL patients. We also investigated the 
      involvement of IGH on 14q32. In addition, HOX11L2 and SIL-TAL1 expression was 
      studied using reverse transcription polymerase chain reaction (RT-PCR). RESULTS: 
      The FISH assays were validated on cell lines and T-ALL patients. We did not 
      identify cases with a t(5;14)(q35;q32) involving CSX, but we did identify 5 cases 
      of t(5;14) involving HOX11L2 out of 32 T-ALL cases studied; in each case the 
      14q32 breakpoint was found to be centromeric to the IGH region. All 5 positive 
      cases showed HOX11L2 expression, as did 1 case without t(5;14)(q35;q32). Cases 
      with t(5;14)(q35;q32) involving HOX11L2 did not show TAL1 abnormalities, whereas 
      5 HOX11L2 negative cases did. INTERPRETATION AND CONCLUSIONS: Using the newly 
      developed and validated FISH probe sets, we identified 5 new cases of t(5;14) 
      involving HOX11L2 both on metaphases and interphases. The incidence of the 
      t(5;14)(q35;q32) involving CSX is probably low. RT-PCR results suggest that TAL1 
      and HOX11L2 expression, or TAL1 aberrations and the t(5;14)(q35;q32) involving 
      HOX11L2 are mutually exclusive.
FAU - van Zutven, Laura J C M
AU  - van Zutven LJ
AD  - Department of Genetics, Erasmus MC, Rotterdam, The Netherlands.
FAU - Velthuizen, Sandra C J M
AU  - Velthuizen SC
FAU - Wolvers-Tettero, Ingrid L M
AU  - Wolvers-Tettero IL
FAU - van Dongen, Jacques J M
AU  - van Dongen JJ
FAU - Poulsen, Tim S
AU  - Poulsen TS
FAU - MacLeod, Roderick A F
AU  - MacLeod RA
FAU - Beverloo, H Berna
AU  - Beverloo HB
FAU - Langerak, Anton W
AU  - Langerak AW
LA  - eng
PT  - Journal Article
PL  - Italy
TA  - Haematologica
JT  - Haematologica
JID - 0417435
RN  - 0 (Homeobox Protein Nkx-2.5)
RN  - 0 (Homeodomain Proteins)
RN  - 0 (Immunoglobulin Heavy Chains)
RN  - 0 (NKX2-5 protein, human)
RN  - 0 (Oncogene Proteins)
RN  - 0 (TLX3 protein, human)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Child
MH  - Child, Preschool
MH  - Chromosomes, Human, Pair 14
MH  - Chromosomes, Human, Pair 5
MH  - Female
MH  - Homeobox Protein Nkx-2.5
MH  - Homeodomain Proteins/genetics
MH  - Humans
MH  - Immunoglobulin Heavy Chains/genetics
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Incidence
MH  - Leukemia-Lymphoma, Adult T-Cell/diagnosis/epidemiology/*genetics
MH  - Male
MH  - Middle Aged
MH  - Molecular Epidemiology
MH  - Oncogene Proteins/genetics
MH  - Transcription Factors/genetics
MH  - *Translocation, Genetic
EDAT- 2004/06/15 05:00
MHDA- 2006/03/11 09:00
CRDT- 2004/06/15 05:00
PHST- 2004/06/15 05:00 [pubmed]
PHST- 2006/03/11 09:00 [medline]
PHST- 2004/06/15 05:00 [entrez]
PST - ppublish
SO  - Haematologica. 2004 Jun;89(6):671-8.