| Clinics and Pathology |
| Disease | |
| Phenotype / cell stem origin | CD30+; ALK+ |
| Clinics | found in 1 case ( a 3 yr old girl in complete remission 1yr after end of treatment), perhaps 2 (a 52 yr old man). |
| Genes involved and Proteins |
| Gene Name | ALK |
| Location | 2p23 |
| Protein | 1620 amino acids; 177 kDa; glycoprotein (200 kDa mature protein) ; membrane associated tyrosine kinase receptor |
| Gene Name | CLTCL1 |
| Location | 22q11.2 |
| Protein | 1640 amino acids, 187 kDa; component of the coat of vesicles originated from the plasma membrane or the golgi |
| Result of the chromosomal anomaly |
| Description | 5' CLTCL1 - 3' ALK |
| Description | 2197 amino acids, 248-250 kDa; 1634 (nearly all the CLTCL1 protein) N-term amino acids from CLTCL1, fused to the 562 C-term amino acids from ALK (i.e. the entire cytoplasmic portion of ALK with the tyrosine kinase domain). |
| Oncogenesis | constitutive autophosphorylation |
| External links |
| Other database | t(2;22)(p23;q11.2) | Mitelman database (CGAP - NCBI) | |
| Other database | t(2;22)(p23;q11.2) | CancerChromosomes (NCBI) |
| To be noted |
| Additional cases are needed to delineate the epidemiology of this rare entity: you are welcome to submit a paper to our new Case Report section. |
| Bibliography |
| Characterization of a second human clathrin heavy chain polypeptide gene (CLH-22) from chromosome 22q11. |
| Kedra D, Peyrard M, Fransson I, Collins JE, Dunham I, Roe BA, Dumanski JP |
| Human molecular genetics. 1996 ; 5 (5) : 625-631. |
| PMID 8733129 |
| Further demonstration of the diversity of chromosomal changes involving 2p23 in ALK-positive lymphoma: 2 cases expressing ALK kinase fused to CLTCL (clathrin chain polypeptide-like). |
| Touriol C, Greenland C, Lamant L, Pulford K, Bernard F, Rousset T, Mason DY, Delsol G |
| Blood. 2000 ; 95 (10) : 3204-3207. |
| PMID 10807789 |
| CD30(+) anaplastic large cell lymphoma: a review of its histopathologic, genetic, and clinical features. |
| Stein H, Foss HD, Dˆºrkop H, Marafioti T, Delsol G, Pulford K, Pileri S, Falini B |
| Blood. 2000 ; 96 (12) : 3681-3695. |
| PMID 11090048 |
| 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 |
| 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.. |
| 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 |
| Contributor(s) |
| Written | 08-2001 | Jean-Loup Huret |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(2;22)(p23;q11.2). Atlas Genet Cytogenet Oncol Haematol. August 2001 . URL : http://AtlasGeneticsOncology.org/Genes/t0222ID1220.html |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Jul 14 16:32:49 2008 |
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