t(8;21)(q23;q22) RUNX1/ZFPM2

2008-10-01   Jean-Loup Huret 

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

Clinics and Pathology


Only one case to date, a 78 year old male patient (Chan et al., 2005).

Genes Involved and Proteins

Gene name
ZFPM2 (zinc finger protein, FOG family member 2)
Protein description
ZFPM2, better known as FOG2, forms a transcription complex with GATA4; essential in tissue development and differentiation (heart, testis, mammary gland...).
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Protein description
Transcription factor; role in normal hematopoiesis.

Result of the Chromosomal Anomaly


Breakpoints in RUNX1 exon 6 and ZFPM2 exon 6. Both reciprocal transcripts are expressed.


1242 amino acids (aa) protein, composed of aa 1 to 268 from RUNX1 and aa 178 to 1151 from ZFPM2.


NH2 RUNX1 - ZFPM2 COOH fuses the DNA binding domain of RUNX1 to most of ZFPM2 (including the 8 zinc finger domains and the corepressor C-term binding domain), and represses the transcriptional activity of the core binding factor (CBF, the dimer made of RUNX1 (CBFA2) and CBFB) and GATA1. The reciprocal ZFPM2-RUNX1 may also reduce the transcriptional activity of the normal RUNX1 allele.


Pubmed IDLast YearTitleAuthors
157057842005AML1-FOG2 fusion protein in myelodysplasia.Chan EM et al


Fusion gene

RUNX1/ZFPM2 RUNX1 (21q22.12) ZFPM2 (8q23.1) M t(X;8;21)(p22;q23;q22)


Jean-Loup Huret

t(8;21)(q23;q22) RUNX1/ZFPM2

Atlas Genet Cytogenet Oncol Haematol. 2008-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1271/t(8;21)(q23;q22)