| Written | 2011-10 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| 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 Name | LPXN (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 Name | RUNX1 (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 |
| Description | 5' RUNX1 - 3' LPXN |
| Transcript | Two in frame fusion transcripts -fusion of exon 5 or 6 of RUNX1 to LPXN exon 8. |
 | |
| 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. |
| Bibliography |
| 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 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(11;21)(q21;q22) |
| Atlas Genet Cytogenet Oncol Haematol. 2012;16(3):234-235. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t1121q21q22ID1592.html |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(11;21)(q21;q22) RUNX1/LPXN | |
| External links |
| Mitelman database | t(11;21)(q21;q22) [Case List] t(11;21)(q21;q22) [Transloc-MCList] RUNX1/LPXN [Fusion-MCList] |
| arrayMap (UZH-SIB Zurich) | Topo ( C42) Morph ( 9861/3) - [auto + random 100 samples .. if exist ] [tabulated segments] |
| Mitelman database | RUNX1/LPXN [MCList] RUNX1 (21q22.12) LPXN (11q12.1) |
| TICdb | RUNX1/LPXN RUNX1 (21q22.12) LPXN (11q12.1) |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Aug 28 18:18:05 CEST 2018 |
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