t(1;12)(p36;p13) ETV6/MDS2

2003-07-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


only 2 cases so far: 1 male and 1 female patient, aged 50 and 66 yrs


unknown so far

Genes Involved and Proteins

Gene name
MDS2 (myelodysplastic syndrome 2 translocation associated)
Dna rna description
7 exons; alternate splicing
Gene name
ETV6 (ets variant 6)
Dna rna description
9 exons; alternate splicing
Protein description
contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor

Result of the Chromosomal Anomaly


5 ETV6 - 3 MDS2; exons 1 and 2 of ETV6 are fused to exons 6 and 7 of MDS2; fusion is not in frame; the reciprocal fusion gene is not expressedtruncated ETV6 lacking the PTN domain and the DNA binding domain


Pubmed IDLast YearTitleAuthors
122037852002A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome.Odero MD et al
83027281993Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia.Vassallo J et al


Fusion gene

ETV6/MDS2 ETV6 (12p13.2) MDS2 (1p36.11) M t(1;12)(p36;p13)|ETV6/MDS2 ETV6 (12p13.2) MDS2 (1p36.11) TIC


Jean-Loup Huret

t(1;12)(p36;p13) ETV6/MDS2

Atlas Genet Cytogenet Oncol Haematol. 2003-07-01

Online version: http://atlasgeneticsoncology.org/haematological/1170/t(1;12)(p36;p13)

External Links