t(19;21)(q13.4;q22) RUNX1 truncated
2000-02-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
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 stem cell 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 description
transcription is from telomere to centromere
Protein description
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 frametruncated AML1 with the DNA binding domain, but not a transcriptional activation region
Oncogenesis
could function as a dominant negative inhibitor of normal AML1
Bibliography
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Citation
Jean-Loup Huret
t(19;21)(q13.4;q22) RUNX1 truncated
Atlas Genet Cytogenet Oncol Haematol. 2000-02-01
Online version: http://atlasgeneticsoncology.org/haematological/1182/t(19;21)(q13-4;q22)-runx1-truncated
