| Written | 2000-02 | 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 | 9920/3 Therapy-related myeloid neoplasms |
| Atlas_Id | 1182 |
| Clinics and Pathology |
| Disease | acute myeloid leukemia (AML) 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-AML |
| 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 (AML1 partner from chromosome 19) |
| Location | 19q13.4 |
| Gene Name | RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene)) |
| Location | 21q22.12 |
| 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 |
| 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). |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(19;21)(q13.4;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2000;4(1):39-39. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1921ID1182.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(19;21)(q13.4;q22) RUNX1 truncated | |
| External links |
| 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 : Tue Nov 6 14:04:17 CET 2018 |
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