| Clinics and Pathology |
| Disease | Acute lymphoblastic leukemia |
| Phenotype / cell stem origin | pre B ALL |
| Epidemiology | only one case to date; no age nor gender data |
| Prognosis | no data |
| Cytogenetics |
| Cytogenetics Molecular | Cryptic translocation; recognized by multicolor FISH plus locus-specific FISH |
| Additional anomalies | Hyperploidy (57 chromosomes) |
| Genes involved and Proteins |
| Gene Name | ETV6 |
| Location | 12p13 |
| Protein | 53 and 57 kDa; contains, from N-term to C- term, an helix -loop-helix (HLH) domain (or"sterile alpha domain" SAM) responsible ofr dimerization, and a sequence specific DNA-binding domain (ETS domain); binds to 5' CCGGAAGT 3'; ETV6 is a member of the ETS family of transcription factors; transcriptional repressor |
| Gene Name | IGH |
| Location | 14q32 |
| External links |
| Other database | t(12;14)(p13;q32) | Mitelman database (CGAP - NCBI) | |
| Other database | t(12;14)(p13;q32) | 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 |
| The utility of spectral karyotyping in the cytogenetic analysis of newly diagnosed pediatric acute lymphoblastic leukemia. |
| Lu XY, Harris CP, Cooley L, Margolin J, Steuber PC, Sheldon M, Rao PH, Lau CC |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2002 ; 16 (11) : 2222-2227. |
| PMID 12399965 |
| Contributor(s) |
| Written | 08-2005 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(12;14)(p13;q32). Atlas Genet Cytogenet Oncol Haematol. August 2005 . URL : http://AtlasGeneticsOncology.org/Genes/t1214p13q32ID1368.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:07:28 2008 |
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