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

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.

Bibliography

Pubmed IDLast YearTitleAuthors

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;18)(q11;q21)