PMID- 12661008
OWN - NLM
STAT- MEDLINE
DCOM- 20030512
LR  - 20231213
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 37
IP  - 1
DP  - 2003 May
TI  - A novel cryptic translocation t(12;17)(p13;p12-p13) in a secondary acute myeloid 
      leukemia results in a fusion of the ETV6 gene and the antisense strand of the 
      PER1 gene.
PG  - 79-83
AB  - The ETV6 gene is a member of the ETS family of transcription factors and the main 
      target of chromosomal rearrangements affecting chromosome band 12p13. To date, 
      more than 15 fusion partners of ETV6 have been characterized at the molecular 
      level. Most of these fusions encode chimeric proteins with oncogenic properties. 
      However, some of the translocations do not produce a functional fusion protein, 
      but may induce ectopic expression of oncogenes located close to the breakpoint. 
      We herein report the characterization and cloning of a novel cryptic 
      translocation, t(12;17)(p13;p12-p13), occurring in a patient with an acute 
      myeloid leukemia evolving from a chronic myelomonocytic leukemia. Cytogenetic 
      analysis suggested the presence of a deletion of the short arm of chromosome 12, 
      del(12)(p13), in three of the five metaphase cells analyzed. However, 
      fluorescence in situ hybridization (FISH) with the ETV6-specific cosmid clones 
      179A6, 50F4, 163E7, and 148B6 as well as probes hybridizing to the TP53 gene on 
      17p13 and the subtelomeric region of 17p revealed the presence of a translocation 
      between 12p and 17p. By FISH, the breakpoints could be localized in intron 1 of 
      ETV6 and centromeric to TP53. By 3' rapid amplification of cDNA ends-polymerase 
      chain reaction (3' RACE-PCR), a fusion transcript between exon 1 of ETV6 and the 
      antisense strand of PER1 (period homolog 1, Drosophila), a circadian clock gene, 
      could be identified. This ETV6-PER1 (antisense PER1 strand) fusion transcript 
      does not produce a fusion protein, and no other fusion transcripts could be 
      detected. We hypothesize that in the absence of a fusion protein, the 
      inactivation of PER1 or deregulation of a gene in the neighborhood of PER1 may 
      contribute to the pathogenesis of leukemias with a t(12;17)(p13;p12-p13).
CI  - Copyright 2003 Wiley-Liss, Inc.
FAU - Murga Penas, Eva Maria
AU  - Murga Penas EM
AD  - Department of Medicine, Division of Hematology and Oncology, University Hospital 
      Hamburg-Eppendorf, Hamburg, Germany.
FAU - Cools, Jan
AU  - Cools J
FAU - Algenstaedt, Petra
AU  - Algenstaedt P
FAU - Hinz, Kristina
AU  - Hinz K
FAU - Seeger, Doris
AU  - Seeger D
FAU - Schafhausen, Philippe
AU  - Schafhausen P
FAU - Schilling, Georgia
AU  - Schilling G
FAU - Marynen, Peter
AU  - Marynen P
FAU - Hossfeld, Dieter K
AU  - Hossfeld DK
FAU - Dierlamm, Judith
AU  - Dierlamm J
LA  - eng
PT  - Case Reports
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 (Cell Cycle Proteins)
RN  - 0 (DNA, Antisense)
RN  - 0 (DNA, Neoplasm)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Oncogene Proteins, Fusion)
RN  - 0 (PER1 protein, human)
RN  - 0 (Period Circadian Proteins)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (Repressor Proteins)
SB  - IM
MH  - Acute Disease
MH  - Aged
MH  - Base Sequence/genetics
MH  - Cell Cycle Proteins
MH  - Chromosomes, Human, Pair 12/*genetics
MH  - Chromosomes, Human, Pair 17/*genetics
MH  - DNA, Antisense/genetics
MH  - DNA, Neoplasm/genetics
MH  - DNA-Binding Proteins/*genetics
MH  - Humans
MH  - Leukemia, Myeloid/etiology/*genetics
MH  - Leukemia, Myelomonocytic, Chronic/genetics
MH  - Male
MH  - Molecular Sequence Data
MH  - Neoplasms, Second Primary/*genetics
MH  - Nuclear Proteins/*genetics
MH  - Oncogene Proteins, Fusion/*genetics
MH  - Period Circadian Proteins
MH  - Proto-Oncogene Proteins c-ets
MH  - Repressor Proteins/*genetics
MH  - Translocation, Genetic/*genetics
MH  - ETS Translocation Variant 6 Protein
EDAT- 2003/03/28 05:00
MHDA- 2003/05/13 05:00
CRDT- 2003/03/28 05:00
PHST- 2003/03/28 05:00 [pubmed]
PHST- 2003/05/13 05:00 [medline]
PHST- 2003/03/28 05:00 [entrez]
AID - 10.1002/gcc.10175 [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 2003 May;37(1):79-83. doi: 10.1002/gcc.10175.