PMID- 12939747
OWN - NLM
STAT- MEDLINE
DCOM- 20031027
LR  - 20231213
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 38
IP  - 2
DP  - 2003 Oct
TI  - Heterogeneity of the 7q36 breakpoints in the t(7;12) involving ETV6 in infant 
      leukemia.
PG  - 191-200
AB  - The t(7;12)(q36;p13) is a recurrent chromosome abnormality in infant leukemia. In 
      these cases, the involvement of ETV6, with disruption of the gene consistently at 
      its 5' end, has been reported by several groups. A fusion transcript between ETV6 
      and HLXB9 has been detected in some, but not all, reported cases of t(7;12). We 
      report here a study based on fluorescence in situ hybridization (FISH) mapping of 
      the translocation breakpoints in seven patients and detailed molecular studies 
      using Southern blotting on two of these patients. The FISH studies have shown a 
      cluster of breakpoints within a cosmid contig proximal to the HLXB9 gene. 
      Southern blotting analysis enabled us to define two distinct breakpoints within 
      the area covered by the cosmid contig in two patients. The analysis of an unusual 
      case of t(7;12)(q22;p13) [full karyotype: 
      46,XX,der(7)t(7;12)(q22;p13)del(7)(q22q36)] also revealed a break in 7q36, 
      although in a region proximal to the overlapping cosmids. 5' RACE PCR in one 
      patient has shown a rearrangement involving the ETV6 allele not involved in the 
      t(7;12), suggesting that no functional ETV6 allele might be present in this case. 
      These data show some heterogeneity in the distribution of breakpoints in 7q36, 
      indicating that the generation of a fusion gene might not be the mechanism 
      responsible for leukemogenesis in the t(7;12), at least in some cases.
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Tosi, Sabrina
AU  - Tosi S
AD  - MRC Molecular Haematology Unit, Institute of Molecular Medicine, John Radcliffe 
      Hospital, Oxford, United Kingdom. sabrina.tosi@ndcls.ox.ac.uk
FAU - Hughes, Jim
AU  - Hughes J
FAU - Scherer, Stephen W
AU  - Scherer SW
FAU - Nakabayashi, Kazuhiko
AU  - Nakabayashi K
FAU - Harbott, Jochen
AU  - Harbott J
FAU - Haas, Oskar A
AU  - Haas OA
FAU - Cazzaniga, Giovanni
AU  - Cazzaniga G
FAU - Biondi, Andrea
AU  - Biondi A
FAU - Kempski, Helena
AU  - Kempski H
FAU - Kearney, Lyndal
AU  - Kearney L
LA  - eng
PT  - Journal Article
PT  - Research Support, Non-U.S. Gov't
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)
SB  - IM
MH  - Base Sequence
MH  - Chromosome Breakage/*genetics
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 7/*genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Female
MH  - *Genetic Heterogeneity
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Infant
MH  - Leukemia/*genetics
MH  - Leukemia, Myeloid, Acute/genetics
MH  - Leukemia, Myelomonocytic, Acute/genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Myelodysplastic Syndromes/genetics
MH  - Precursor Cell Lymphoblastic Leukemia-Lymphoma/genetics
MH  - Proto-Oncogene Proteins c-ets
MH  - Repressor Proteins/*genetics
MH  - Translocation, Genetic/*genetics
MH  - ETS Translocation Variant 6 Protein
EDAT- 2003/08/27 05:00
MHDA- 2003/10/28 05:00
CRDT- 2003/08/27 05:00
PHST- 2003/08/27 05:00 [pubmed]
PHST- 2003/10/28 05:00 [medline]
PHST- 2003/08/27 05:00 [entrez]
AID - 10.1002/gcc.10258 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2003 Oct;38(2):191-200. doi: 10.1002/gcc.10258.