| Clinics and Pathology |
| Disease | acute non lymphocytic leukemia (ANLL) |
| Phenotype / cell stem origin | M4Eo ANLL |
| Epidemiology | only one case available |
| Cytogenetics |
| Cytogenetics Morphological | a cryptic inv(16) was present, ascertained by a CBFb/MYH11 rearrangement; there fore, the t(1;12) may be a secondary anomaly |
| Genes involved and Proteins |
| Gene Name | ABL2 |
| Location | 1q25 |
| Protein | tyrosine kinase; closely related to ABL1 |
| Gene Name | ETV6 |
| Location | 12p13 |
| Dna / Rna | alternative transcripts |
| Protein | belong to the ETS transcription factors family characterized by the ETS domain, domain which is responsible for the sequence specific DNA-binding activity |
| Result of the chromosomal anomaly |
| Transcript | both reciprocal transcripts are detected |
| Description | the fusion protein is composed of the HLH oligomerization domain of ETV6 and the SH2, SH3, and protein tyrosine kinase domains of ABL2 |
| External links |
| Other database | t(1;12)(q25;p13) | Mitelman database (CGAP - NCBI) | |
| Other database | t(1;12)(q25;p13) | 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 |
| NUP98 is fused to PMX1 homeobox gene in human acute myelogenous leukemia with chromosome translocation t(1;11)(q23;p15). |
| Nakamura T, Yamazaki Y, Hatano Y, Miura I |
| Blood. 1999 ; 94 (2) : 741-747. |
| PMID 10397741 |
| The tyrosine kinase abl-related gene ARG is fused to ETV6 in an AML-M4Eo patient with a t(1;12)(q25;p13): molecular cloning of both reciprocal transcripts. |
| Cazzaniga G, Tosi S, Aloisi A, Giudici G, Daniotti M, Pioltelli P, Kearney L, Biondi A |
| Blood. 1999 ; 94 (12) : 4370-4373. |
| PMID 10590083 |
| Contributor(s) |
| Written | 02-2000 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(1;12)(q25;p13). Atlas Genet Cytogenet Oncol Haematol. February 2000 . URL : http://AtlasGeneticsOncology.org/Genes/t0112ID1147.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Dec 6 18:02:06 2008 |
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