| Disease |
Anaplasic large cell lymphoma: translocations involving 2p23 are found in more than half cases of anaplasic large cell lymphoma (ALCL), a high grade non Hodgkin lymphoma (NHL). They involve ALK, and are therefore called ALK+ ALCL. The most frequent ALK+ ALCL being the the t(2;5)(p23;q35) with NPM1 -ALK fusion protein, which localises both in the cytoplasm and in the nucleus. The t(1;2)(q25;p23) is very rare., and, like other t(2;Var) involving various partners and ALK, the fusion protein has a cytoplasmic localization; they are therefore called "cytoplasm only" ALK+ ALCL. |
| Epidemiology | a very few (four) cases known so far |
| 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. Nothing in particular is known concerning t(1;2) cases, as cases are not documented. |
| Cytogenetics | complex karyotypes and/or hidden translocation in the 2 cases with cytogenetic data; FISH analyses are essential |
| 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.. |
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| 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 |
| |
| 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 |
| |
| A new fusion gene TPM3-ALK in anaplastic large cell lymphoma created by a (1;2)(q25;p23) translocation. |
| Lamant L, Dastugue N, Pulford K, Delsol G, Mariamé B |
| Blood. 1999 ; 93 (9) : 3088-3095. |
| PMID 10216106 |
| |
| TPM3-ALK and TPM4-ALK oncogenes in inflammatory myofibroblastic tumors. |
| Lawrence B, Perez-Atayde A, Hibbard MK, Rubin BP, Dal Cin P, Pinkus JL, Pinkus GS, Xiao S, Yi ES, Fletcher CD, Fletcher JA |
| The American journal of pathology. 2000 ; 157 (2) : 377-384. |
| PMID 10934142 |
| |
| 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 |
| |
| Complex variant translocation t(1;2) with TPM3-ALK fusion due to cryptic ALK gene rearrangement in anaplastic large-cell lymphoma. |
| Siebert R, Gesk S, Harder L, Steinemann D, Grote W, Schlegelberger B, Tiemann M, Wlodarska I, Schemmel V |
| Blood. 1999 ; 94 (10) : 3614-3617. |
| PMID 10610119 |
| |
| 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 |
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