Download Leukaemia Section t(11;21)(q21;q22) Atlas of Genetics and Cytogenetics

Atlas of Genetics and Cytogenetics
in Oncology and Haematology
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Leukaemia Section
Short Communication
t(11;21)(q21;q22)
Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
(JLH)
Published in Atlas Database: October 2011
Online updated version : http://AtlasGeneticsOncology.org/Anomalies/t1121q21q22ID1592.html
DOI: 10.4267/2042/47287
This work is licensed under a Creative Commons Attribution-Noncommercial-No Derivative Works 2.0 France Licence.
© 2012 Atlas of Genetics and Cytogenetics in Oncology and Haematology
inhibited cell adhesion. Strongly expressed in
hematopoietic cells. LPXN is involved in bone
resorption and stimulates prostate cancer cell migration
(Chen and Kroog, 2010).
Identity
Note
This
translocation
t(11;21)(q12;q22)
involvement.
is
with
different
from
the
MACROD1/RUNX1
RUNX1
Location
21q22.3
Protein
Transcription
factor
(activator)
hematopoietic-specific genes.
Clinics and pathology
Disease
Acute myeloid leukemia (AML)
Epidemiology
for
various
One case to date, a 65-year-old male patient with M2AML (Dai et al., 2007).
Result of the chromosomal
anomaly
Evolution
Hybrid gene
The patient died 10 months after diagnosis.
Description
5' RUNX1 - 3' LPXN
Transcript
Two in frame fusion transcripts -fusion of exon 5 or 6
of RUNX1 to LPXN exon 8.
Genes involved and proteins
LPXN
Protein
LPXN contains two types of protein-protein interaction
domains: leucine-aspartate (LD) repeats in N-term, and
LIM (Lin-11 Isl-1 Mec-3) domains at the C-term.
Belongs to the paxillin family (PXN, LPXN,
TGFB1I1). Protein involved in focal adhesion. LPXN
and paxillin had opposite roles in adhesion to collagen
LPXN siRNA stimulated whereas paxillin siRNA
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(3)
Fusion protein
Description
The two variant fusion proteins RUNX1-LPXN
localized in the nucleus and inhibited RUNX1
transactivation (Dai et al., 2009). It is hypothesized that
the reciprocal LPXN-RUNX1 may also play a role in
leukemogenesis.
234
t(11;21)(q21;q22)
Huret JL
Chen PW, Kroog GS.. Leupaxin is similar to paxillin in focal
adhesion targeting and tyrosine phosphorylation but has
distinct roles in cell adhesion and spreading. Cell Adh Migr.
2010 Oct-Dec;4(4):527-40.
References
Dai H, Xue Y, Pan J, Wu Y, Wang Y, Shen J, Zhang J.. Two
novel translocations disrupt the RUNX1 gene in acute myeloid
leukemia. Cancer Genet Cytogenet. 2007 Sep;177(2):120-4.
This article should be referenced as such:
Dai HP, Xue YQ, Zhou JW, Li AP, Wu YF, Pan JL, Wang Y,
Zhang J.. LPXN, a member of the paxillin superfamily, is fused
to RUNX1 in an acute myeloid leukemia patient with a
t(11;21)(q12;q22) translocation. Genes Chromosomes Cancer.
2009 Dec;48(12):1027-36.
Atlas Genet Cytogenet Oncol Haematol. 2012; 16(3)
Huret JL. t(11;21)(q21;q22). Atlas Genet Cytogenet Oncol
Haematol. 2012; 16(3):234-235.
235