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 |
Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
Genes | RUNX1 | AMP19 |
Translocations implicated (Data extracted from papers in the Atlas) |
t(19;21)(q13.4;q22) RUNX1 truncated | |
External links |
Mitelman database | t(19;21)(q13.4;q22) |
arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9920/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
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 : Mon Dec 14 18:26:45 CET 2020 |
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