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t(2;18)(q11;q21) AFF3::BCL2

Written2010-04Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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Atlas_Id 2158

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.


Additional anomalies A complex karyotype was found, with +11, and other anomalies.

Genes involved and Proteins

Gene NameAFF3 (lymphoid nuclear protein related to AF4)
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 NameBCL2 (B-cell leukemia/lymphoma 2)
Location 18q21.33
Protein Antiapoptotic protein.

Result of the chromosomal anomaly

Hybrid gene
Description Fusion of AFF3 exon 1 to BCL2 exon 2.
Fusion Protein
Oncogenesis Leads to the overexpression of BCL2.

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.


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
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
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


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2011;15(1):82-83.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;18)(q11;q21) AFF3/BCL2

External links

AFF3 (2q11.2) BCL2 (18q21.33)

AFF3 (2q11.2) BCL2 (18q21.33)

Mitelman databaset(2;18)(q11;q21)
arrayMap (UZH-SIB Zurich)[select an item]
Mitelman databaseAFF3::BCL2 [MCList]  AFF3 (2q11.2) BCL2 (18q21.33)
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