Atlas of Genetics and Cytogenetics in Oncology and Haematology
t(4;12)(q11-q21;p13)
| Identity |
| Note | it is likely that breakpoints are heterogeneous, with 2 distinct entities: t(4;12)(q11-12;p13) in ANLL, and t(4:12)(q13-21;p13) in ALL to be delineated |
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| t(4;12)(q11;p13) G-banding (left) - Courtesy Jacqueline Beerworth and Sarah Moore, and R-banding (right) - Courtesy Jean Philippe Rault | |
| Clinics and Pathology |
| Disease | ANLL and therapy related AL cases with t(4;12)(q11-12;p13); B-cell ALL cases seem to have a more distal breakpoint in 4q13 or 21 |
| Phenotype / cell stem origin | ANLL cases: M0, M1, and other subtypes; often CD7+; a stem cell may be involved; ALL cases are CD10+ |
| Epidemiology | at least 17 available cases: 13 ANLL and 4 ALL; so far, ANLL cases with a proximal breakpoint in 4 q11 or 12 are adult cases (43-81 yrs), and ALL cases are children cases (3-14 yrs); balanced sex ratio |
| Prognosis | adult cases: response to therapy is poor and median survival might be a year |
| Cytogenetics |
| Additional anomalies | none in 7/14 cases (all 7 cases are ANLL); del(6q) has recurrently been found in ALL; -7 would be recurrent if only 1 entity exists; the karyotype in ALL cases can be complex |
| Genes involved and Proteins |
| Gene Name | CHIC2 |
| Location | 4q11-q12 |
| Note | CHIC2 is involved in the ANLL cases; there is no data concerning ALL cases |
| Protein | contains a transmembrane domain; member of a family of proteins with function in exocytosis. |
| Gene Name | ETV6 |
| Location | 12p13 |
| Dna / Rna | 9 exons; alternate splicing |
| Protein | contains a Helix-Loop-Helix and ETS DNA binding domains; wide expression; nuclear localisation; ETS-related transcription factor |
| Result of the chromosomal anomaly |
| Description | 5' CHIC2 - 3' ETV6 |
| Description | N term CHIC2 with the first 110 amino acids (exons 1 to 3) fused to the441 C term amino acids (exons 2 to 8) of ETV6. |
| 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. | |
| Case Report | The rare t(4;12)(q11;p13) in an elderly patient with de novo AML with multilineage dysplasia co-expressing stem cell markers |
| Case Report | t(4;12)(q11;p13) in an acute myeloid leukemia without maturation with myelodysplasia |
| Bibliography |
| Characterization of acute leukemia with t(4;12). |
| Harada H, Harada Y, Eguchi M, Dohy H, Kamada N |
| Leukemia & lymphoma. 1997 ; 25 (1-2) : 47-53. |
| PMID 9130613 |
| Fusion of a novel gene, BTL, to ETV6 in acute myeloid leukemias with a t(4;12)(q11-q12;p13). |
| Cools J, Bilhou-Nabera C, Wlodarska I, Cabrol C, Talmant P, Bernard P, Hagemeijer A, Marynen P |
| Blood. 1999 ; 94 (5) : 1820-1824. |
| PMID 10477709 |
| Contributor(s) |
| Written | 01-1998 | Jean-Loup Huret and Marina Lafage-Pochitaloff |
| Laboratoire de Cytogénétique Hématologique, Institut Paoli-Calmettes, Marseille, France | ||
| Updated | 02-2002 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL and Lafage-Pochitaloff M . t(4;12)(q11-q21;p13). Atlas Genet Cytogenet Oncol Haematol. January 1998 . URL : http://AtlasGeneticsOncology.org/Genes/t0412.html |
| Huret JL . t(4;12)(q11-q21;p13). Atlas Genet Cytogenet Oncol Haematol. February 2002 . URL : http://AtlasGeneticsOncology.org/Genes/t0412.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Fri Sep 5 17:09:24 2008 |
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