t(11;21)(q21;q22) RUNX1/LPXN

2011-10-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


One case to date, a 65-year-old male patient with M2-AML (Dai et al., 2007).


The patient died 10 months after diagnosis.

Genes Involved and Proteins

Gene name
LPXN (leupaxin)
Protein description
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 inhibited cell adhesion. Strongly expressed in hematopoietic cells. LPXN is involved in bone resorption and stimulates prostate cancer cell migration (Chen and Kroog, 2010).
Gene name
RUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Protein description
Transcription factor (activator) for various hematopoietic-specific genes.

Result of the Chromosomal Anomaly


5 RUNX1 - 3 LPXN


Two in frame fusion transcripts -fusion of exon 5 or 6 of RUNX1 to LPXN exon 8.
Atlas Image


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.


Pubmed IDLast YearTitleAuthors
205435622010Leupaxin is similar to paxillin in focal adhesion targeting and tyrosine phosphorylation but has distinct roles in cell adhesion and spreading.Chen PW et al
178546662007Two novel translocations disrupt the RUNX1 gene in acute myeloid leukemia.Dai H et al
197606072009LPXN, a member of the paxillin superfamily, is fused to RUNX1 in an acute myeloid leukemia patient with a t(11;21)(q12;q22) translocation.Dai HP et al


Fusion gene

RUNX1/LPXN RUNX1 (21q22.12) LPXN (11q12.1) M t(11;21)(q12;q22)|RUNX1/LPXN RUNX1 (21q22.12) LPXN (11q12.1) TIC


This translocation is different from the t(11;21)(q12;q22) with MACROD1/RUNX1 involvement.


Jean-Loup Huret

t(11;21)(q21;q22) RUNX1/LPXN

Atlas Genet Cytogenet Oncol Haematol. 2011-10-01

Online version: http://atlasgeneticsoncology.org/haematological/1592/t(11;21)(q21;q22)