Written | 2001-08 | 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 | 1216 |
Clinics and Pathology |
Disease | |
Phenotype / cell stem origin | CD30+; ALK+ |
Clinics | only 1 case to date: a 18 yr old man |
Prognosis | unknown: the patient achieved remission, but died of an unrelated cause |
Genes involved and Proteins |
Gene Name | MSN (moesin) |
Location | Xq12 |
Protein | 576 amino acids, 75 kDa; cytoskeleton protein; binds to the plasma membrane and interacts with actin. |
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 |
Result of the chromosomal anomaly |
Description | 5' MSN - 3' ALK. The breakpoint in ALK is different (17 bp downstream) from that observed in NPM1-ALK and other hybrid genes. |
Description | 1005 amino acids, 125 kDa; 448 N-term amino acid from MSN, containing the band 4.1 like domain and most of the alpha helix domain, fused to the 557 (instead of the usual 562) C-term amino acids from ALK (i.e. the cytoplasmic portion of ALK with the tyrosine kinase domain). |
Expression Localisation | membrane restricted, in contrast with the t(2;5)(p23;q35) with NPM1-ALK, which localizes both in the cytoplasm and in the nucleus, and with other "variant ALK+" which have a cytoplasmic localisation. |
Oncogenesis | tyrosine kinase activity. |
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 |
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 |
Molecular characterization of a new ALK translocation involving moesin (MSN-ALK) in anaplastic large cell lymphoma. |
Tort F, Pinyol M, Pulford K, Roncador G, Hernandez L, Nayach I, Kluin-Nelemans HC, Kluin P, Touriol C, Delsol G, Mason D, Campo E |
Laboratory investigation; a journal of technical methods and pathology. 2001 ; 81 (3) : 419-426. |
PMID 11310834 |
Citation |
This paper should be referenced as such : |
Huret, JL |
t(X;2)(q11;p23) |
Atlas Genet Cytogenet Oncol Haematol. 2001;5(4):288-289. |
Free journal version : [ pdf ] [ DOI ] |
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0X02ID1216.html |
Other genes implicated (Data extracted from papers in the Atlas) [ 2 ] |
Genes | ALK | MSN |
Translocations implicated (Data extracted from papers in the Atlas) |
t(X;2)(q11;p23) MSN/ALK | |
External links |
Mitelman database | t(X;2)(q11;p23) |
arrayMap (UZH-SIB Zurich) | [select an item] |
COSMIC_fusion | MSN/ALK MSN (Xq12) ALK (2p23.2) [fusion421] [fusion422] [fusion467] |
Mitelman database | MSN/ALK [MCList] MSN (Xq12) ALK (2p23.2) |
Mitelman database | MSN/ALK [MCList] MSN (Xq12) ALK (2p23.2) |
TICdb | MSN/ALK MSN (Xq12) ALK (2p23.2) |
REVIEW articles | automatic search in PubMed |
Last year articles | automatic search in PubMed |
All articles | automatic search in PubMed |
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