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

2010-04-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


Non Hodgkin lymphoma.

Phenotype stem cell origin

One case to date, a 65-year-old female patient with a follicular lymphoma stage II-a (Impera et al., 2008).


Complete remission was obtained.

Genes Involved and Proteins

Gene name
AFF3 (lymphoid nuclear protein related to AF4)
Protein description
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 (B-cell leukemia/lymphoma 2)
Protein description
Antiapoptotic protein.

Result of the Chromosomal Anomaly


Fusion of AFF3 exon 1 to BCL2 exon 2.


Leads to the overexpression of BCL2.


Pubmed IDLast YearTitleAuthors
193592762009Identification 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 et al
200840052010Genetic susceptibility factors for psoriatic arthritis.Castelino M et al
200721392010Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis.Hinks A et al
186224262008A novel fusion 5'AFF3/3'BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma.Impera L et al
186167332008Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4.Steichen-Gersdorf E et al
157041402005LAF-4 is aberrantly expressed in human breast cancer.To MD et al


Fusion gene

AFF3/BCL2 AFF3 (2q11.2) BCL2 (18q21.33) M t(2;18)(q11;q21)|AFF3/BCL2 AFF3 (2q11.2) BCL2 (18q21.33) TIC


Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2010-04-01

Online version: http://atlasgeneticsoncology.org/haematological/2158/t(2;18)(q11;q21)