PMID- 11319801
OWN - NLM
STAT- MEDLINE
DCOM- 20010712
LR  - 20231213
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 31
IP  - 2
DP  - 2001 Jun
TI  - Identification of new translocations involving ETV6 in hematologic malignancies 
      by fluorescence in situ hybridization and spectral karyotyping.
PG  - 134-42
AB  - TEL/ETV6 is the first transcription factor identified that is specifically 
      required for hematopoiesis within the bone marrow. This gene has been found to 
      have multiple fusion partners; 35 different chromosome bands have been involved 
      in ETV6 translocations, of which 13 have been cloned. To identify additional ETV6 
      partner genes and to characterize the chromosomal abnormalities more fully, we 
      studied bone marrow samples from patients known to have rearrangements of 12p, 
      using fluorescence in situ hybridization (FISH) and spectral karyotyping (SKY). 
      FISH analysis was done with 14 probes located on 12p12.1 to 12p13.3. Nine ETV6 
      rearrangements were identified using FISH. The aberrations include 
      t(1;12)(p36;p13), t(4;12)(q12;p13) (two patients), t(4;12)(q22;p13), 
      t(6;12)(p21;p13), der(6)t(6;21)(q15;q?)t(12;21)(p13;q22), t(6;12)(q25;p13), 
      inv(12)(p13q24), and t(2;2;5;12;17)(p25;q23;q31;p13;q12). Six new ETV6 partner 
      bands were identified: 1p36, 4q22, 6p21, 6q25, 12q24, and 17q12. Our present data 
      as well previous data from us and from other researchers suggest that ETV6 is 
      involved in 41 translocations. The breakpoints in ETV6 were upstream from the 
      exons coding for the HLH (helix-loop-helix) domain in six cases. Although 
      cytogenetic analysis identified 12p abnormalities in all cases, FISH and SKY 
      detected new and unexpected chromosomal rearrangements in many of them. Thus, 
      complete characterization of the samples was achieved by using all three 
      techniques in combination.
CI  - Copyright 2001 Wiley-Liss, Inc.
FAU - Odero, M D
AU  - Odero MD
AD  - Department of Genetics, University of Navarra, Pamplona, Spain. modero@unav.es
FAU - Carlson, K
AU  - Carlson K
FAU - Calasanz, M J
AU  - Calasanz MJ
FAU - Lahortiga, I
AU  - Lahortiga I
FAU - Chinwalla, V
AU  - Chinwalla V
FAU - Rowley, J D
AU  - Rowley JD
LA  - eng
GR  - CA42557/CA/NCI NIH HHS/United States
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
PT  - Research Support, U.S. Gov't, P.H.S.
PL  - United States
TA  - Genes Chromosomes Cancer
JT  - Genes, chromosomes & cancer
JID - 9007329
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (Repressor Proteins)
RN  - 0 (Transcription Factors)
SB  - IM
MH  - Adolescent
MH  - Adult
MH  - Aged
MH  - Aged, 80 and over
MH  - Bone Marrow Cells/pathology
MH  - Child
MH  - Child, Preschool
MH  - Chromosome Painting
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - Hematologic Neoplasms/*genetics
MH  - Humans
MH  - In Situ Hybridization, Fluorescence/*methods
MH  - Karyotyping/methods
MH  - Male
MH  - Middle Aged
MH  - Proto-Oncogene Proteins c-ets
MH  - *Repressor Proteins
MH  - Transcription Factors/*genetics
MH  - Translocation, Genetic/*genetics
MH  - ETS Translocation Variant 6 Protein
EDAT- 2001/04/25 10:00
MHDA- 2001/07/13 10:01
CRDT- 2001/04/25 10:00
PHST- 2001/04/25 10:00 [pubmed]
PHST- 2001/07/13 10:01 [medline]
PHST- 2001/04/25 10:00 [entrez]
AID - 10.1002/gcc.1127 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2001 Jun;31(2):134-42. doi: 10.1002/gcc.1127.