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t(12;21)(q12;q22) RUNX1 truncated

Written2008-01Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1339

Clinics and Pathology

Disease Acute myeloid leukaemia (AML), M2 subtype.
Epidemiology Only one case to date, a 76 year old male patient.
Prognosis No data: the patient died, but no survival data was noted.


Additional anomalies The t(12;21)(q12;q22) was the sole anomaly.

Genes involved and Proteins

Gene NameCPNE8 (copine 8)
Location 12q12
Protein CPNE8 is a member of the copines. Copines are highly conserved, widely expressed, calcium-dependent membrane binding proteins. They may have a role in membrane trafficking. and mediate cellular processes by conferring calcium regulation to various signaling pathways. Copine 8 is strongly expressed in brain, heart, and prostate, and expressed at low level in most other tissues.
Gene NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
Protein Contains a RUNT binding domain and a transactivation domain; forms heterodimers; nuclear localization; transcription factor; critical regulator of hematopoietic-cell development.

Result of the chromosomal anomaly

Hybrid gene
Description 5' RUNX1 (including the DNA binding domain) broken after exon 6 and fused to intron 2 of CPNE8. However, fusion is out of frame, and termination occurs after 2 amino acids from CPNE8, producing a truncated RUNX1.
Fusion Protein
Description The truncated RUNX1 includes the binding domain, but not the transactivation domain.

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.


Cloning, molecular characterization, and expression analysis of Copine 8.
Maitra R, Grigoryev DN, Bera TK, Pastan IH, Lee B
Biochemical and biophysical research communications. 2003 ; 303 (3) : 842-847.
PMID 12670487
Fusion of AML1/Runx1 to copine VIII, a novel member of the copine family, in an aggressive acute myelogenous leukemia with t(12;21) translocation.
Ramsey H, Zhang DE, Richkind K, Burcoglu-O'Ral A, Hromas R
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2003 ; 17 (8) : 1665-1666.
PMID 12886257


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):132-132.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(12;21)(q12;q22) RUNX1 truncated

External links

Mitelman databaset(12;21)(q12;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
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 16:37:25 CEST 2021

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