t(X;21)(q26;q22) ELF4/ERG

2008-11-01   Jean-Loup Huret 

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

Clinics and Pathology


One case so far, a 56-year-old female patient with a prior history of polycythemia vera treated with hydroxyurea.


The patient achieved complete remission, relapsed, have had a bone marrow transplantation, relapsed again and died.


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))
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))
Protein description
Transcription factor, expressed during endothelial and hematopoietic developments.

Result of the Chromosomal Anomaly


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 IDYearTitleCitations
163031802006ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22).10


Pubmed IDLast YearTitleAuthors
165307022006The transcription factor MEF/ELF4 regulates the quiescence of primitive hematopoietic cells.Lacorazza HD et al
163031802006ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22).Moore SD et al


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)


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;21)(q26;q22)