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

Disease

Refractory anaemia with excess of blasts (RAEB)

Epidemiology

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)
Location
8q23.1
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))
Location
21q22.12
Protein description
Transcription factor; role in normal hematopoiesis.

Result of the Chromosomal Anomaly

Transcript

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

Description

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

Oncogenesis

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.

Article Bibliography

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

Summary

Fusion gene

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

Citation

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