t(3;11)(q27;q23) POU2AF1/BCL6

2013-01-01   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

Clinics

Four cases to date: 3 cases of follicular lymphoma (FL) (Roumier et al., 2000) and one case of peripheral T-cell lymphoma (T-cell NHL) (Schlegelberger et al., 1994). This translocation has been also detected in Karpas 231 cell line (Galiègue-Zouitina et al., 1995; Galiègue-Zouitina et al., 1996). The 3 FL cases were female patients; the T-cell NHL case was a 38-year-old male patient.

Genes Involved and Proteins

Note
The gene rearrangement was determined in Roumier et al., 2000, Galiègue-Zouitina et al., 1995; Galiègue-Zouitina et al., 1996.
Gene name
BCL6 (B-Cell Lymphoma 6)
Location
3q27.3
Protein description
706 amino acids; composed of a NH2-term BTB/POZ domain (amino acids 1-130 (32-99 according to Swiss-Prot) which mediates homodimerization and protein-protein interactions with other corepressors (including HDAC1 and NCOR2/SMRT to constitute a large repressing complex, another transcription repression domain (191-386), PEST sequences (300-417) with a KKYK motif (375-379), and six zinc finger at the C-term (518-541, 546-568, 574-596, 602-624, 630-652, 658-681), responsible for sequence specific DNA binding. Transcription repressor; recognizes the consensus sequence: TTCCT(A/C)GAA (Albagli-Curiel, 2003). Role in germinal centers of lymphoid follicles. BCL6 prevents ATM and TP53 to induce apoptosis in response to DNA rearrangements such as somatic hypermutation and class switch recombination. Therefore essential for normal B cell development.
Gene name
POU2AF1 (POU domain, class 2, associating factor 1)
Location
11q23.1
Note
POU2AF1 is also named BOB1 or OBF1.
Protein description
B-cell specific transcriptional coactivator: involved in the transcription of immunoglobulin genes. Associates with POU2F1 (OCT1) or POU2F2 (OCT2).

Result of the Chromosomal Anomaly

Description

5 POU2AF1- 3 BCL6 and 5 BCL6 - 3 POU2AF1, leading to two fusion transcripts; breakpoint in BCL6 intron 1.No fusion protein, but promoter exchange between both partner genes.

Bibliography

Pubmed IDLast YearTitleAuthors
125550642003Ambivalent role of BCL6 in cell survival and transformation.Albagli-Curiel O et al
85747891995Fusion of the LAZ3/BCL6 and BOB1/OBF1 genes by t(3; 11) (q27; q23) chromosomal translocation.Galiègue-Zouitina S et al
86184321996The B cell transcriptional coactivator BOB1/OBF1 gene fuses to the LAZ3/BCL6 gene by t(3;11)(q27;q23.1) chromosomal translocation in a B cell leukemia line (Karpas 231).Galiègue Zouitina S et al
119201792000FISH analysis with a YAC probe improves detection of LAZ3/BCL6 rearrangement in non-Hodgkin's lymphoma.Roumier C et al
79878001994Recurrent chromosome abnormalities in peripheral T-cell lymphomas.Schlegelberger B et al

Summary

Fusion gene

POU2AF1/BCL6 POU2AF1 (11q23.1) BCL6 (3q27.3) M|POU2AF1/BCL6 POU2AF1 (11q23.1) BCL6 (3q27.3) M t(3;11)(q27;q23)|POU2AF1/BCL6 POU2AF1 (11q23.1) BCL6 (3q27.3) TIC

Citation

Jean-Loup Huret

t(3;11)(q27;q23) POU2AF1/BCL6

Atlas Genet Cytogenet Oncol Haematol. 2013-01-01

Online version: http://atlasgeneticsoncology.org/haematological/2016/t(3;11)(q27;q23)

External Links