PMID- 10502316
OWN - NLM
STAT- MEDLINE
DCOM- 20000210
LR  - 20191024
IS  - 1045-2257 (Print)
IS  - 1045-2257 (Linking)
VI  - 26
IP  - 3
DP  - 1999 Nov
TI  - Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute
      myelogenous leukemia with t(5;12)(q31;p13).
PG  - 192-202
AB  - We identified a novel human long fatty acyl CoA synthetase 2 gene, ACS2, as a new
      ETV6 fusion partner gene in a recurrent t(5;12)(q31;p13) translocation in a
      patient with refractory anemia with excess blasts (RAEB) with basophilia, a
      patient with acute myelogenous leukemia (AML) with eosinophilia, and a patient
      with acute eosinophilic leukemia (AEL). ACS2 is expressed in the brain and bone
      marrow and is highly conserved in man and rats. The resulting ETV6/ACS2 fusion
      transcripts showed an out-frame fusion of exon 1 of ETV6 to exon 1 of ACS2 in the
      AEL case, an out-frame fusion of exon 1 of ETV6 to exon 11 of ACS2 in the AML
      case, and a short in-frame fusion of ETV6 exon 1 to the 3' untranslated region of
      ACS2 in the RAEB case. Reciprocal ACS2/ETV6 transcripts were identified in two of
      the cases. Fluorescence in situ hybridization (FISH) analysis with ETV6 cosmids
      on 12p13, and BACs and P1s on 5q31, demonstrated that the 5q31 breakpoints of the
      AML and AEL cases involved the 5' portion of the ACS2 gene, and that the 5q31,
      breakpoint of the RAEB case involved the 3' portion of the ACS2 gene. None of the
      resulting chimeric transcripts except for the ACS2/ETV6 transcript in the RAEB
      case led to a fusion protein. Disruption of the second ETV6 allele by t(12;19)
      was detected in the AML case by FISH analysis. These observations suggest that
      the disruption of ETV6 and/or ACS2 may lead to the pathogenesis of hematologic
      malignancies with t(5;12)(q31;p13).
CI  - Copyright 1999 Wiley-Liss, Inc.
FAU - Yagasaki, F
AU  - Yagasaki F
AD  - First Department of Internal Medicine, Saitama Medical School, Saitama, Japan.
      fyagasak@saitama-med.ac.jp
FAU - Jinnai, I
AU  - Jinnai I
FAU - Yoshida, S
AU  - Yoshida S
FAU - Yokoyama, Y
AU  - Yokoyama Y
FAU - Matsuda, A
AU  - Matsuda A
FAU - Kusumoto, S
AU  - Kusumoto S
FAU - Kobayashi, H
AU  - Kobayashi H
FAU - Terasaki, H
AU  - Terasaki H
FAU - Ohyashiki, K
AU  - Ohyashiki K
FAU - Asou, N
AU  - Asou N
FAU - Murohashi, I
AU  - Murohashi I
FAU - Bessho, M
AU  - Bessho M
FAU - Hirashima, K
AU  - Hirashima K
LA  - eng
SI  - GENBANK/AF099740
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 (DNA, Neoplasm)
RN  - 0 (DNA-Binding Proteins)
RN  - 0 (ETS translocation variant 6 protein)
RN  - 0 (Nuclear Proteins)
RN  - 0 (Phosphoproteins)
RN  - 0 (Proto-Oncogene Proteins c-ets)
RN  - 0 (RNA, Neoplasm)
RN  - 0 (Repressor Proteins)
RN  - 0 (Transcription Factors)
RN  - EC 6.2.1.- (Coenzyme A Ligases)
RN  - EC 6.2.1.3 (ACSL6 protein, human)
SB  - IM
MH  - Adult
MH  - Amino Acid Sequence
MH  - Artificial Gene Fusion
MH  - Base Sequence
MH  - Blotting, Northern
MH  - Chromosome Mapping
MH  - *Chromosomes, Human, Pair 12
MH  - *Chromosomes, Human, Pair 5
MH  - Coenzyme A Ligases/*genetics
MH  - DNA, Neoplasm/analysis
MH  - DNA-Binding Proteins/*genetics
MH  - Exons
MH  - Female
MH  - Humans
MH  - In Situ Hybridization, Fluorescence
MH  - Leukemia, Myeloid, Acute/*genetics
MH  - Male
MH  - Middle Aged
MH  - Molecular Sequence Data
MH  - Nuclear Proteins/genetics
MH  - Phosphoproteins/genetics
MH  - Proto-Oncogene Proteins c-ets
MH  - RNA, Neoplasm/analysis
MH  - *Repressor Proteins
MH  - Reverse Transcriptase Polymerase Chain Reaction
MH  - Sequence Analysis, DNA
MH  - Transcription Factors/*genetics
MH  - *Translocation, Genetic
EDAT- 1999/09/29 00:00
MHDA- 1999/09/29 00:01
CRDT- 1999/09/29 00:00
PHST- 1999/09/29 00:00 [pubmed]
PHST- 1999/09/29 00:01 [medline]
PHST- 1999/09/29 00:00 [entrez]
AID - 10.1002/(SICI)1098-2264(199911)26:3<192::AID-GCC2>3.0.CO;2-E [pii]
AID - 10.1002/(sici)1098-2264(199911)26:3<192::aid-gcc2>3.0.co;2-e [doi]
PST - ppublish
SO  - Genes Chromosomes Cancer. 1999 Nov;26(3):192-202. doi:
      10.1002/(sici)1098-2264(199911)26:3<192::aid-gcc2>3.0.co;2-e.