| Written | 2003-08 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C470-C476,C478-C479,C490-C496,C498-C499 CONNECTIVE & SOFT TISSUE |
| ICD-Morpho | 8825/1 Inflammatory myofibroblastic tumour |
| Atlas_Id | 5213 |
| Phylum | Soft Tissues::Inflammatory myofibroblastic tumor |
| Clinics and Pathology |
| Disease | Inflammatory myofibroblastic tumors |
| Clinics | rare soft tissue tumour found in children and young adults |
| Pathology | spindle cell proliferation with myofibroblastic differenciation and an inflammatory infiltrate |
| Cytogenetics | The translocation was found complex: t(2;11;2)(p23;p15;q31) |
| Prognosis | low malignant potential and good prognosis |
| Genes involved and Proteins |
| Gene Name | ALK (anaplastic lymphoma receptor tyrosine kinase) |
| Location | 2p23.2 |
| Protein | 1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptor |
| Gene Name | CARS (cysteinyj-tRNA synthetase) |
| Location | 11p15.4 |
| Protein | 748 amino acids, 85 kDa. Forms homodimers |
| Result of the chromosomal anomaly |
| Hybrid Gene | |
| Description | 5' CARS - 3' ALK |
| Fusion Protein | |
| Description | 606 N-term amino acid from CARS, fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain). |
| Bibliography |
| Identification of novel fusion partners of ALK, the anaplastic lymphoma kinase, in anaplastic large-cell lymphoma and inflammatory myofibroblastic tumor. |
| Cools J, Wlodarska I, Somers R, Mentens N, Pedeutour F, Maes B, De Wolf-Peeters C, Pauwels P, Hagemeijer A, Marynen P |
| Genes, chromosomes & cancer. 2002 ; 34 (4) : 354-362. |
| PMID 12112524 |
| Recurrent involvement of 2p23 in inflammatory myofibroblastic tumors. |
| Griffin CA, Hawkins AL, Dvorak C, Henkle C, Ellingham T, Perlman EJ |
| Cancer research. 1999 ; 59 (12) : 2776-2780. |
| PMID 10383129 |
| Aberrant ALK tyrosine kinase signaling. Different cellular lineages, common oncogenic mechanisms. |
| Ladanyi M |
| The American journal of pathology. 2000 ; 157 (2) : 341-345. |
| PMID 10934137 |
| Fusion of ALK to the Ran-binding protein 2 (RANBP2) gene in inflammatory myofibroblastic tumor. |
| Ma Z, Hill DA, Collins MH, Morris SW, Sumegi J, Zhou M, Zuppan C, Bridge JA |
| Genes, chromosomes & cancer. 2003 ; 37 (1) : 98-105. |
| PMID 12661011 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(2;11)(p23;p15) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):290-290. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Tumors/t0211p23p15ID5213.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Genes | ALK | CARS |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(2;11)(p23;p15) CARS/ALK | |
| External links |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Tue Sep 26 12:37:26 CEST 2017 |
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