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 |
Mitelman database | t(12;21)(q12;q22) |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9861/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
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 Dec 14 18:26:37 CET 2020 |
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