| Written | 2008-01 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| 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. |
| Cytogenetics |
| Additional anomalies | The t(12;21)(q12;q22) was the sole anomaly. |
| Genes involved and Proteins |
| Gene Name | CPNE8 (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 Name | RUNX1 (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 |
| 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. |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(12;21)(q12;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2009;13(2):132-132. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1221q12q22ID1339.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(12;21)(q12;q22) RUNX1 truncated | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 17:20:13 CEST 2017 |
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