t(19;21)(q13.4;q22) RUNX1 truncated

2000-02-01   Jean-Loup Huret 

1.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)

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