t(X;21)(q26;q22) ELF4/ERG
2008-11-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
Acute myeloid leukaemia (AML)
Epidemiology
One case so far, a 56-year-old female patient with a prior history of polycythemia vera treated with hydroxyurea.
Evolution
The patient achieved complete remission, relapsed, have had a bone marrow transplantation, relapsed again and died.
Prognosis
The patient died shortly (6 months) after the discovery of the t(X;21) clone. However, it is likely that this clone developped at onset of the AML, 39 months before death.
Genes Involved and Proteins
Gene name
ELF4 (E74-like factor 4 (ets domain transcription factor))
Location
Xq26.1
Protein description
Sequence specific transcription factor. Interacts with RUNX1. Regulates many genes expression. Expressed during primitive hematopoietic proliferation.
Gene name
ERG (v-ets erythroblastosis virus E26 oncogene like (avian))
Location
21q22.2
Protein description
Transcription factor, expressed during endothelial and hematopoietic developments.
Result of the Chromosomal Anomaly
Description
5 ELF4 - 3 ERG. The reciprocal transcript was not detected.The fusion protein includes the first 25 amino acids from ELF4, encoded by exon 2, and the last 470 amino acids from ERG (exons 2 to 10). The fusion protein contains the SAM-PNT and ETS domains from ERG.
Highly cited references
| Pubmed ID | Year | Title | Citations |
|---|---|---|---|
| 16303180 | 2006 | ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). | 0 |
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 16530702 | 2006 | The transcription factor MEF/ELF4 regulates the quiescence of primitive hematopoietic cells. | Lacorazza HD et al |
| 16303180 | 2006 | ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22). | Moore SD et al |
Summary
Fusion gene
ELF4/ERG ELF4 (Xq26.1) ERG (21q22.2) M|ELF4/ERG ELF4 (Xq26.1) ERG (21q22.2) M t(X;21)(q25;q22)
Citation
Jean-Loup Huret
t(X;21)(q26;q22) ELF4/ERG
Atlas Genet Cytogenet Oncol Haematol. 2008-11-01
Online version: http://atlasgeneticsoncology.org/haematological/1442/t(x
