| 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. |
| Cytogenetics |
| Additional anomalies | The t(12;21)(q12;q22) was the sole anomaly. |
| Genes involved and Proteins |
| Gene Name | CPNE8 |
| 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 Name | RUNX1 |
| Location | 21q22 |
| 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 |
| 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. |
| Description | The truncated RUNX1 includes the binding domain, but not the transactivation domain. |
| External links |
| Other database | t(12;21)(q12;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(12;21)(q12;q22) | CancerChromosomes (NCBI) |
| 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. |
| Bibliography |
| 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 |
| Contributor(s) |
| Written | 01-2008 | Jean-Loup Huret |
| Jean Loup HURET, Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(12;21)(q12;q22). Atlas Genet Cytogenet Oncol Haematol. January 2008 . URL : http://AtlasGeneticsOncology.org/Anomalies/t1221q12q22ID1339.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon May 12 18:13:10 2008 |
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