| Clinics and Pathology |
| Disease | acute non lymphocytic leukemia (ANLL) secondary to toxic exposure |
| Note | only one case, but with features identical to 2 other cases: one case of t(1;21)(p36;q22), and one case of t(18;21)(q21;q22) |
| Phenotype / cell stem origin | M2-ANLL |
| Etiology | about 50 years after radiation exposure from nuclear explosion |
| Clinics | pancytopenia preceeded leukemia |
| Evolution | complete remission was obtained and the patient returned to the previous pancytopenia; subsequent relapse occurred |
| Genes involved and Proteins |
| Gene Name | AMP19 |
| Location | 19q13.4 |
| Gene Name | AML1 |
| Location | 21q22 |
| Dna / Rna | transcription is from telomere to centromere |
| Protein | contains a Runt domain and, in the C-term, a transactivation domain; forms heterodimers; widely expressed; nuclear localisation; transcription factor (activator) for various hematopoietic-specific genes |
| Result of the chromosomal anomaly |
| Description | AMP-19 is fused to AML1 out of frame |
| Description | truncated AML1 with the DNA binding domain, but not a transcriptional activation region |
| Oncogenesis | could function as a dominant negative inhibitor of normal AML1 |
| External links |
| Other database | t(19;21)(q13.4;q22) | Mitelman database (CGAP - NCBI) | |
| Other database | t(19;21)(q13.4;q22) | 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 |
| Cloning of an AML1 translocation in a novel syndrome of radiation-induced acute myeloid leukemia. |
| Hromas RA, Busse TM, Shopnick R, Jumean H, Bowers C, Richkind K |
| Blood. 1999 ; 94 (numero suppl 1). |
| Contributor(s) |
| Written | 02-2000 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(19;21)(q13.4;q22). Atlas Genet Cytogenet Oncol Haematol. February 2000 . URL : http://AtlasGeneticsOncology.org/Genes/t1921ID1182.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Wed Sep 24 21:07:39 2008 |
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