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 |
WHO/OMS Classification | Soft Tissues |
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 | CARS1 |
Translocations implicated (Data extracted from papers in the Atlas) |
t(2;11)(p23;p15) CARS/ALK | |
External links |
Mitelman database | t(2;11)(p23;p15) [CaseList] t(2;11)(p23;p15) [Transloc - MCList] CARS/ALK Fusion - MCList] |
COSMIC | [ CARS ] [ ALK ] |
arrayMap | Topo ( C47,C49) arrayMap ((UZH-SIB Zurich) [auto + random 100 samples .. if exist ] [tabulated segments] |
COSMIC_fusion | CARS (11p15.4) ALK (2p23.2) [fusion437] [fusion438] [fusion753] |
Mitelman database | CARS/ALK[MCList] CARS (11p15.4) ALK (2p23.2) |
Mitelman database | CARS/ALK[MCList] CARS (11p15.4) ALK (2p23.2) t(2;11)(p23;p15) |
TICdb | CARS/ALK CARS (11p15.4) ALK (2p23.2) |
Disease database | Soft Tissues: Inflammatory myofibroblastic tumor with t(2;11)(p23;p15) CARS/ALK |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
© Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Dec 14 18:30:47 CET 2020 |
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