Download Leukaemia Section t(3;11)(p21;q23) 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(3;11)(p21;q23)
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/t0311ID1165.html
DOI: 10.4267/2042/37594
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
hook, and Zinc fingers), a DNA methyl transferase
motif, a bromodomain; transcriptional regulatory
factor; nuclear localisation.
Clinics and pathology
Disease
AF3p21
Treatment related acute non lymphoblastic leukemia (tANLL).
Location
3p21
Phenotype/cell stem origin
M5b ANLL.
Result of the chromosomal
anomaly
Epidemiology
Only one case; a female patient aged 23 yrs and treated
9 years ago for T-ALL.
Hybrid gene
Prognosis
Description
Breakpoints of MLL between exons 9 and 10 and
upstream of exon 1 of the AF3p21 gene.
Unknown; likely to be poor, both as it carries a MLL
rearrangements and as occurs in t-ANLL.
Fusion protein
Cytogenetics
Description
AT hooks and methyltransferase domains of MLL in
the N-term fused to the proline-rich domain and nuclear
localization signal of AF3p21.
Cytogenetics morphological
Sole anormaly.
Genes involved and proteins
References
MLL
Sano K, Hayakawa A, JinHua P. A novel sh3 protein encoded
by the AF3p21 gene is fused to MLL in a therapy-related
leukemia with t(3; 11)(p21;q23). Blood. 1999 ; 94 (numero
Suppl 1).
Location
In 11q23
DNA/RNA
13-15 kb mRNA.
Protein
431 kDa; contains two DNA binding motifs (a AT
Atlas Genet Cytogenet Oncol Haematol. 2000; 4(1)
This article should be referenced as such:
Huret JL. t(3;11)(p21;q23). Atlas Genet Cytogenet Oncol
Haematol. 2000; 4(1):40.
40