| Clinics and Pathology |
| Disease | Non Hodgkin lymphoma. |
| Phenotype / cell stem origin | One case to date, a 65-year-old female patient with a follicular lymphoma stage II-a (Impera et al., 2008). |
| Evolution | Complete remission was obtained. |
| Cytogenetics |
| Additional anomalies | A complex karyotype was found, with +11, and other anomalies. |
| Genes involved and Proteins |
| Gene Name | AFF3 |
| Location | 2q11.2 |
| Protein | AFF3 belongs to a family of putative transcription factors also comprising AFF1 (AF4, FEL, MLLT2) in 4q21, AFF2 (FMR2, FRAXE) in Xq28 and AFF4 (AF5Q31) in 5q31. AFF3 has been found a susceptibility gene in autoimmune diseases, namely rheumatoid arthritis, psoriatic arthritis, and juvenile idiopathic arthritis (Barton et al., 2009; Castelino and Barton, 2010; Hinks et al., 2010). AFF3 is deleted in Nievergelt syndrome, an autosomal dominant mesomelic dysplasia (Steichen-Gersdorf et al., 2008). AFF3 was also found expressed in 20% of mammary tumor cells but not in normal acini in a study (To et al., 2005). |
| Gene Name | BCL2 |
| Location | 18q21.33 |
| Protein | Antiapoptotic protein. |
| Result of the chromosomal anomaly |
| Description | Fusion of AFF3 exon 1 to BCL2 exon 2. |
| Oncogenesis | Leads to the overexpression of BCL2. |
| External links |
| Other database | t(2;18)(q11;q21) | Mitelman database (CGAP - 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 |
| LAF-4 is aberrantly expressed in human breast cancer. |
| To MD, Faseruk SA, Gokgoz N, Pinnaduwage D, Done SJ, Andrulis IL. |
| Int J Cancer. 2005 Jul 1;115(4):568-74. |
| PMID 15704140 |
| A novel fusion 5'AFF3/3'BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma. |
| Impera L, Albano F, Lo Cunsolo C, Funes S, Iuzzolino P, Laveder F, Panagopoulos I, Rocchi M, Storlazzi CT. |
| Oncogene. 2008 Oct 16;27(47):6187-90. Epub 2008 Jul 14. |
| PMID 18622426 |
| Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. |
| Steichen-Gersdorf E, Gassner I, Superti-Furga A, Ullmann R, Stricker S, Klopocki E, Mundlos S. |
| Clin Genet. 2008 Dec;74(6):560-5. Epub 2008 Jun 23. |
| PMID 18616733 |
| Identification of AF4/FMR2 family, member 3 (AFF3) as a novel rheumatoid arthritis susceptibility locus and confirmation of two further pan-autoimmune susceptibility genes. |
| Barton A, Eyre S, Ke X, Hinks A, Bowes J, Flynn E, Martin P; YEAR Consortium; BIRAC Consortium, Wilson AG, Morgan AW, Emery P, Steer S, Hocking LJ, Reid DM, Harrison P, Wordsworth P, Thomson W, Worthington J. |
| Hum Mol Genet. 2009 Jul 1;18(13):2518-22. Epub 2009 Apr 9. |
| PMID 19359276 |
| Genetic susceptibility factors for psoriatic arthritis. |
| Castelino M, Barton A. |
| Curr Opin Rheumatol. 2010 Mar;22(2):152-6. |
| PMID 20084005 |
| Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. |
| Hinks A, Eyre S, Ke X, Barton A, Martin P, Flynn E, Packham J, Worthington J; Childhood Arthritis Prospective Study; UKRAG Consortium; BSPAR Study Group, Thomson W. |
| Genes Immun. 2010 Mar;11(2):194-8. Epub 2010 Jan 14. |
| PMID 20072139 |
| Contributor(s) |
| Written | 04-2010 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Citation |
| This paper should be referenced as such : |
| Huret JL . t(2;18)(q11;q21). Atlas Genet Cytogenet Oncol Haematol. April 2010 . URL : http://AtlasGeneticsOncology.org/Anomalies/t0218q11q21ID2158.html |
This paper is referenced by INIST as such : |
| http://documents.irevues.inist.fr/bitstream/2042/44947/1/04-2010-t0218q11q21ID2158.pdf [ Bibliographic record ] |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Sat Mar 9 12:36:54 CET 2013 |
For comments and suggestions or contributions, please contact us