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Atlas of Genetics and Cytogenetics in Oncology and Haematology OPEN ACCESS JOURNAL AT INIST-CNRS 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