Written | 2001-08 | 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 | 5128 |
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 |
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 | TPM4 (tropomyosin) |
Location | 19p13.12 |
Protein | 248 amino acids, 29 kDa; coiled coil structure |
Result of the chromosomal anomaly |
Hybrid Gene | |
Description | 5' TPM4 - 3' ALK |
Fusion Protein | |
Description | 783 amino acids. N-term TPM4 containing all but its 27 C-term amino acids , including the coiled coil domain, fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain) |
Expression Localisation | predominantly cytoplasmic |
Oncogenesis | TPM4-ALK is contituvely activated |
Bibliography |
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 |
Citation |
This paper should be referenced as such : |
Huret, JL |
t(2;19)(p23;p13.1) |
Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):307-307. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Tumors/t0219ID5128.html |
Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
Genes | ALK |
Translocations implicated (Data extracted from papers in the Atlas) |
t(2;19)(p23;p13) TPM4/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 : Mon Dec 14 18:30:48 CET 2020 |
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