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

2008-01-01   Jean-Loup Huret 

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

Clinics and Pathology


Acute myeloid leukaemia (AML), M2 subtype.


Only one case to date, a 76 year old male patient.


No data: the patient died, but no survival data was noted.

Genes Involved and Proteins

Gene name
CPNE8 (copine 8)
Protein description
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 name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Protein description
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


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.The truncated RUNX1 includes the binding domain, but not the transactivation domain.


Pubmed IDLast YearTitleAuthors
126704872003Cloning, molecular characterization, and expression analysis of Copine 8.Maitra R et al
128862572003Fusion 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 et al


Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2008-01-01

Online version: http://atlasgeneticsoncology.org/haematological/1339/t(12;21)(q12;q22)