| Written | 2013-01 | Jean-Loup Huret |
| Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| Atlas_Id | 2016 |
| 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. |
| Cytogenetics |
| Cytogenetics Morphological | A complex karyotype was found in all the four cases. A t(14;18)(q32;q21) was found in the 3 FL cases, a trisomy 12 in two of these. Other known recurrent abnormalities were: + 7, del(6q), del(13q), i(17q), + 18, found in one case each. |
| 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 | 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 | 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. |
| Description | No fusion protein, but promoter exchange between both partner genes. |
| 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. |
| Bibliography |
| Ambivalent role of BCL6 in cell survival and transformation. |
| Albagli-Curiel O. |
| Oncogene. 2003 Jan 30;22(4):507-16. |
| PMID 12555064 |
| Fusion of the LAZ3/BCL6 and BOB1/OBF1 genes by t(3; 11) (q27; q23) chromosomal translocation. |
| Galiegue-Zouitina S, Quief S, Hildebrand MP, Denis C, Lecocq G, Collyn-d'Hooghe M, Bastard C, Yuille M, Dyer MJ, Kerckaert JP. |
| C R Acad Sci III. 1995 Nov;318(11):1125-31. |
| PMID 8574789 |
| The 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). |
| Galieque Zouitina S, Quief S, Hildebrand MP, Denis C, Lecocq G, Collyn-d'Hooghe M, Bastard C, Yuille M, Dyer MJ, Kerckaert JP. |
| Leukemia. 1996 Apr;10(4):579-87. |
| PMID 8618432 |
| FISH analysis with a YAC probe improves detection of LAZ3/BCL6 rearrangement in non-Hodgkin's lymphoma. |
| Roumier C, Galiegue-Zouitina S, Bastard C, Soenen V, Lai JL, Denis C, Buchonnet G, Kerckaert JP, Cosson A, Fenaux P, Preudhomme C. |
| Hematol J. 2000;1(2):117-25. |
| PMID 11920179 |
| Recurrent chromosome abnormalities in peripheral T-cell lymphomas. |
| Schlegelberger B, Himmler A, Bartles H, Kuse R, Sterry W, Grote W. |
| Cancer Genet Cytogenet. 1994 Nov;78(1):15-22. |
| PMID 7987800 |
| Citation |
| This paper should be referenced as such : |
| Huret, JL |
| t(3;11)(q27;q23) POU2AF1/BCL6 |
| Atlas Genet Cytogenet Oncol Haematol. 2013;17(6):433-434. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t0311q27q23ID2016.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 1 ] |
| Genes | BCL6 |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(3;11)(q27;q23) POU2AF1/BCL6 | |
| External links |
| Mitelman database | t(3;11)(q27;q23) [Case List] t(3;11)(q27;q23) [Association List] Mitelman database (CGAP - NCBI) |
| arrayMap | arrayMap (UZH-SIB Zurich)[select an item] |
| Mitelman database | POU2AF1/BCL6 [MCList] POU2AF1 (11q23.1) BCL6 (3q27.3) |
| Mitelman database | POU2AF1/BCL6 [MCList] POU2AF1 (11q23.1) BCL6 (3q27.3) |
| TICdb | POU2AF1/BCL6 POU2AF1 (11q23.1) BCL6 (3q27.3) |
| Disease database | t(3;11)(q27;q23) POU2AF1/BCL6 |
| REVIEW articles | automatic search in PubMed |
| Last year articles | automatic search in PubMed |
| All articles | automatic search in PubMed |
| © Atlas of Genetics and Cytogenetics in Oncology and Haematology | indexed on : Mon Sep 18 17:19:24 CEST 2017 |
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