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 | 5127 |
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 | CLTC (clathrin heavy polypeptide) |
Location | 17q23.1 |
Protein | 1675 amino acids, 191 kDa; mediate endocytosis of transmembrane receptors. |
Result of the chromosomal anomaly |
Hybrid Gene | |
Description | 5' CLTC - 3' ALK |
Fusion Protein | |
Description | 2196 amino acids. 1634 N-term amino acid from CLTC, containing nearly all of CLTC, including the triskelion assembly domain, fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain). |
Bibliography |
Fusion of the ALK gene to the clathrin heavy chain gene, CLTC, in inflammatory myofibroblastic tumor. |
Bridge JA, Kanamori M, Ma Z, Pickering D, Hill DA, Lydiatt W, Lui MY, Colleoni GW, Antonescu CR, Ladanyi M, Morris SW |
The American journal of pathology. 2001 ; 159 (2) : 411-415. |
PMID 11485898 |
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;17)(p23;q23) |
Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):306-306. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Tumors/t0217ID5127.html |
Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
Genes | CLTC |
Translocations implicated (Data extracted from papers in the Atlas) |
t(2;17)(p23;q23) CLTC/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 18:30:47 CET 2020 |
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