RGD Reference Report - Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13). - Rat Genome Database

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Fusion of TEL/ETV6 to a novel ACS2 in myelodysplastic syndrome and acute myelogenous leukemia with t(5;12)(q31;p13).

Authors: Yagasaki, F  Jinnai, I  Yoshida, S  Yokoyama, Y  Matsuda, A  Kusumoto, S  Kobayashi, H  Terasaki, H  Ohyashiki, K  Asou, N  Murohashi, I  Bessho, M  Hirashima, K 
Citation: Yagasaki F, etal., Genes Chromosomes Cancer. 1999 Nov;26(3):192-202.
RGD ID: 1599805
Pubmed: PMID:10502316   (View Abstract at PubMed)

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).

RGD Manual Disease Annotations    Click to see Annotation Detail View
TermQualifierEvidenceWithReferenceNotesSourceOriginal Reference(s)
acute myeloid leukemia  IAGP 1599805; 1599805DNA:translocation: :t(5 more ...RGD 
acute myeloid leukemia  ISOACSL6 (Homo sapiens)1599805; 1599805DNA:translocation: :t(5 more ...RGD 
acute myeloid leukemia  ISOETV6 (Homo sapiens)1599805; 1599805DNA:translocation: :t(5 more ...RGD 
leukemia  IAGP 1599805DNA:translocation: :t(5 more ...RGD 
leukemia  ISOACSL6 (Homo sapiens)1599805; 1599805DNA:translocation: :t(5 more ...RGD 

Objects Annotated

Genes (Rattus norvegicus)
Acsl6  (acyl-CoA synthetase long-chain family member 6)
Etv6  (ETS variant transcription factor 6)

Genes (Mus musculus)
Acsl6  (acyl-CoA synthetase long-chain family member 6)
Etv6  (ets variant 6)

Genes (Homo sapiens)
ACSL6  (acyl-CoA synthetase long chain family member 6)
ETV6  (ETS variant transcription factor 6)


Additional Information