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

Written2011-10Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)


ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1592
Note This translocation is different from the t(11;21)(q12;q22) with MACROD1/RUNX1 involvement.

Clinics and Pathology

Disease Acute myeloid leukemia (AML)
Epidemiology One case to date, a 65-year-old male patient with M2-AML (Dai et al., 2007).
Evolution The patient died 10 months after diagnosis.

Genes involved and Proteins

Gene NameLPXN (leupaxin)
Location 11q12.1
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 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 NameRUNX1 (runt-related transcription factor 1 (acute myeloid leukemia 1; aml1 oncogene))
Location 21q22.12
Protein Transcription factor (activator) for various hematopoietic-specific genes.

Result of the chromosomal anomaly

Hybrid gene
Description 5' RUNX1 - 3' LPXN
Transcript Two in frame fusion transcripts -fusion of exon 5 or 6 of RUNX1 to LPXN exon 8.
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.

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.


Leupaxin is similar to paxillin in focal adhesion targeting and tyrosine phosphorylation but has distinct roles in cell adhesion and spreading.
Chen PW, Kroog GS.
Cell Adh Migr. 2010 Oct-Dec;4(4):527-40.
PMID 20543562
Two novel translocations disrupt the RUNX1 gene in acute myeloid leukemia.
Dai H, Xue Y, Pan J, Wu Y, Wang Y, Shen J, Zhang J.
Cancer Genet Cytogenet. 2007 Sep;177(2):120-4.
PMID 17854666
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.
Dai HP, Xue YQ, Zhou JW, Li AP, Wu YF, Pan JL, Wang Y, Zhang J.
Genes Chromosomes Cancer. 2009 Dec;48(12):1027-36.
PMID 19760607


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2012;16(3):234-235.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(11;21)(q21;q22) RUNX1/LPXN

External links

RUNX1 (21q22.12) LPXN (11q12.1)

RUNX1 (21q22.12) LPXN (11q12.1)

Mitelman databaset(11;21)(q21;q22)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseRUNX1::LPXN [MCList]  RUNX1 (21q22.12) LPXN (11q12.1)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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indexed on : Fri Oct 8 16:37:20 CEST 2021

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