t(2;18)(q11;q21) AFF3/BCL2
2010-04-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
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).
Evolution
Complete remission was obtained.
Genes Involved and Proteins
Gene name
AFF3 (lymphoid nuclear protein related to AF4)
Location
2q11.2
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)
Location
18q21.33
Protein description
Antiapoptotic protein.
Result of the Chromosomal Anomaly
Description
Fusion of AFF3 exon 1 to BCL2 exon 2.
Oncogenesis
Leads to the overexpression of BCL2.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 19359276 | 2009 | 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 et al |
| 20084005 | 2010 | Genetic susceptibility factors for psoriatic arthritis. | Castelino M et al |
| 20072139 | 2010 | Association of the AFF3 gene and IL2/IL21 gene region with juvenile idiopathic arthritis. | Hinks A et al |
| 18622426 | 2008 | A novel fusion 5'AFF3/3'BCL2 originated from a t(2;18)(q11.2;q21.33) translocation in follicular lymphoma. | Impera L et al |
| 18616733 | 2008 | Triangular tibia with fibular aplasia associated with a microdeletion on 2q11.2 encompassing LAF4. | Steichen-Gersdorf E et al |
| 15704140 | 2005 | LAF-4 is aberrantly expressed in human breast cancer. | To MD et al |
Summary
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
Citation
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
