Download Leukaemia Section t(19;21)(q13.4;q22) Atlas of Genetics and Cytogenetics in Oncology and Haematology

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Transcript
Atlas of Genetics and Cytogenetics
in Oncology and Haematology
OPEN ACCESS JOURNAL AT INIST-CNRS
Leukaemia Section
Short Communication
t(19;21)(q13.4;q22)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: February 2000
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t1921ID1182.html
DOI: 10.4267/2042/37599
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2000 Atlas of Genetics and Cytogenetics in Oncology and Haematology
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.
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
Result of the chromosomal
anomaly
M2-ANLL
Hybrid gene
Etiology
Description
AMP-19 is fused to AML1 out of frame.
About 50 years after radiation exposure from nuclear
explosion.
Fusion protein
Clinics
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.
Pancytopenia preceeded leukemia.
Evolution
Complete remission was obtained and the patient
returned to the previous pancytopenia; subsequent
relapse occurred.
References
Genes involved and proteins
Hromas RA, Busse TM, Shopnick R, Jumean H, Bowers C,
Richkind K. Cloning of an AML1 translocation in a novel
syndrome of radiation-induced acute myeloid leukemia. Blood.
1999; 94 (suppl1).
AMP19
Location
19q13.4
This article should be referenced as such:
AML1
Huret JL. t(19;21)(q13.4;q22). Atlas Genet Cytogenet Oncol
Haematol. 2000; 4(1):39.
Location
21q22
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(1)
39