| Written | 2003-08 | 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 |
| Atlas_Id | 1289 |
| Clinics and Pathology |
| Disease | |
| Clinics | ALK+ ALCL without the t(2;5) (so called cytoplasmic only ALK cases) show clinical features similar to those of classical ALK+ ALCL: young age, male predominance, presentation with advanced disease, systemic symptoms, frequent involvement of extranodal sites, and a good prognosis. The t(2;17) case was that of a 53 yrs old man. |
| 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 | RNF213 (lymphoma oligomerization partner on chromosome 17) |
| Location | 17q25.3 |
| Result of the chromosomal anomaly |
| Description | 5' ALO17 - 3' ALK |
| Description | N term ALO17 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 | cytoplasmic localisation (in contrast with the t(2;5)(p23;q35) with NPM1-ALK, which localizes both in the cytoplasm and in the nucleus). |
| 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 |
| Anaplastic large cell lymphomas, Primary systemic (T/Null cell type). |
| Delsol G, Ralfkiaer E, Stein H, Wright D, Jaffe E |
| World Health Organization (WHO) Classification of Tumors.. |
| Pathobiology of NPM-ALK and variant fusion genes in anaplastic large cell lymphoma and other lymphomas. |
| Drexler HG, Gignac SM, von Wasielewski R, Werner M, Dirks WG |
| Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 2000 ; 14 (9) : 1533-1559. |
| PMID 10994999 |
| Alk+ CD30+ lymphomas: a distinct molecular genetic subtype of non-Hodgkin's lymphoma. |
| Morris SW, Xue L, Ma Z, Kinney MC |
| British journal of haematology. 2001 ; 113 (2) : 275-295. |
| PMID 11380391 |
| CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features. |
| Stein H, Foss HD, Dürkop H, Marafioti T, Delsol G, Pulford K, Pileri S, Falini B |
| Blood. 2000 ; 96 (12) : 3681-3695. |
| PMID 11090048 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(2;17)(p23;q25) |
| Atlas Genet Cytogenet Oncol Haematol. 2003;7(4):270-271. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0217p23q25ID1289.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
| Genes | ALK | RNF213 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(2;17)(p23;q25) RNF213/ALK | |
| External links |
| Mitelman database | t(2;17)(p23;q25) |
| arrayMap (UZH-SIB Zurich) | [select an item] |
| Mitelman database | RNF213/ALK [MCList] RNF213 (17q25.3) ALK (2p23.2) |
| TICdb | RNF213/ALK RNF213 (17q25.3) ALK (2p23.2) |
| 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 : Mon Dec 14 18:25:29 CET 2020 |
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