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

Written2008-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9989/3 Myelodysplastic syndrome, unclassifiable
Atlas_Id 1271

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 NameZFPM2 (zinc finger protein, FOG family member 2)
Location 8q23.1
Protein ZFPM2, better known as FOG2, forms a transcription complex with GATA4; essential in tissue development and differentiation (heart, testis, mammary gland...).
Gene NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
Protein Transcription factor; role in normal hematopoiesis.

Result of the chromosomal anomaly

Hybrid gene
Transcript Breakpoints in RUNX1 exon 6 and ZFPM2 exon 6. Both reciprocal transcripts are expressed.
Fusion Protein
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.

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.


AML1-FOG2 fusion protein in myelodysplasia.
Chan EM, Comer EM, Brown FC, Richkind KE, Holmes ML, Chong BH, Shiffman R, Zhang DE, Slovak ML, Willman CL, Noguchi CT, Li Y, Heiber DJ, Kwan L, Chan RJ, Vance GH, Ramsey HC, Hromas RA.
Blood. 2005 Jun 1;105(11):4523-6.
PMID 15705784


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(10):745-745.
Free journal version : [ pdf ]   [ DOI ]
On line version :

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

Genes RUNX1

Translocations implicated (Data extracted from papers in the Atlas)

 t(8;21)(q23;q22) RUNX1/ZFPM2

External links

RUNX1 (21q22.12) ZFPM2 (8q23.1)

Mitelman databaset(8;21)(q23;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9989/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseRUNX1::ZFPM2 [MCList]  RUNX1 (21q22.12) ZFPM2 (8q23.1)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Fri Oct 8 16:37:00 CEST 2021

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