t(1;12)(p36;p13) ETV6/MDS2
2003-07-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Myeloid disorders: one chronic myelogenous leukemia with t(9;22) and one refractory anemiia with excee of blasts in transformation
Epidemiology
only 2 cases so far: 1 male and 1 female patient, aged 50 and 66 yrs
Prognosis
unknown so far
Genes Involved and Proteins
Gene name
MDS2 (myelodysplastic syndrome 2 translocation associated)
Location
1p36.11
Dna rna description
7 exons; alternate splicing
Gene name
ETV6 (ets variant 6)
Location
12p13.2
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
Description
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
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 12203785 | 2002 | A novel gene, MDS2, is fused to ETV6/TEL in a t(1;12)(p36.1;p13) in a patient with myelodysplastic syndrome. | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12203785 | 2002 | A 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 |
| 8302728 | 1993 | Granulocytic sarcoma of the larynx preceding chronic myeloid leukemia. | Vassallo J et al |
Summary
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
Citation
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)-etv6-mds2
