Atlas of Genetics and Cytogenetics in Oncology and Haematology

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

X Y 1 2 3 4 5 6 7 8 9 10 11 12 13 14 15 16 17 18 19 20 21 22 NA

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

Written2008-11Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1442

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.


Additional anomalies The t(X;21) was the sole anomaly.

Genes involved and Proteins

Gene NameELF4 (E74-like factor 4 (ets domain transcription factor))
Location Xq26.1
Protein Sequence specific transcription factor. Interacts with RUNX1. Regulates many genes expression. Expressed during primitive hematopoietic proliferation.
Gene NameERG (v-ets erythroblastosis virus E26 oncogene like (avian))
Location 21q22.2
Protein Transcription factor, expressed during endothelial and hematopoietic developments.

Result of the chromosomal anomaly

Hybrid gene
Description 5' ELF4 - 3' ERG. The reciprocal transcript was not detected.
Fusion Protein
Description 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.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


The transcription factor MEF/ELF4 regulates the quiescence of primitive hematopoietic cells.
Lacorazza HD, Yamada T, Liu Y, Miyata Y, Sivina M, Nunes J, Nimer SD.
Cancer Cell. 2006 Mar;9(3):175-87.
PMID 16530702
ELF4 is fused to ERG in a case of acute myeloid leukemia with a t(X;21)(q25-26;q22).
Moore SD, Offor O, Ferry JA, Amrein PC, Morton CC, Dal Cin P.
Leuk Res. 2006 Aug;30(8):1037-42.
PMID 16303180


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(10):748-748.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes ELF4

Translocations implicated (Data extracted from papers in the Atlas)

 t(X;21)(q26;q22) ELF4/ERG

External links

ELF4 (Xq26.1) ERG (21q22.2)

ELF4 (Xq26.1) ERG (21q22.2)

Mitelman databaset(X;21)(q26;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseELF4::ERG [MCList]  ELF4 (Xq26.1) ERG (21q22.2)
Mitelman databaseELF4::ERG [MCList]  ELF4 (Xq26.1) ERG (21q22.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Fri Oct 8 16:37:08 CEST 2021

Home   Genes   Leukemias   Solid Tumors   Cancer-Prone   Deep Insight   Case Reports   Journals  Portal   Teaching   

For comments and suggestions or contributions, please contact us