| Written | 1998-04 | Christian Bastard |
| Department of Hematology, Centre Henri Becquerel, Rouen, France |
| Identity |
| ICD-Topo | C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS |
| Atlas_Id | 2004 |
| Note | the three translocations are variant of each other, share identical features, and represent translocations of the same proto-oncogene into various immunoglobulin loci. |
 | |
| t(2;3)(p12;q27) G- banding (above) - Courtesy Jean-Luc Lai and Alain Vanderhaegen; t(3;14)(q27;q32) G-banding (middle) and t(3;22)(q27;q11) G-banding (below) - Courtesy Diane H. Norback, Eric B. Johnson, and Sara Morrison-Delap, UW Cytogenetic Services | |
| Clinics and Pathology |
| Disease | NHL; mainly diffuse large cell lymphoma (DLCL); high grade lymphoma; rare cases with low grade/follicular lymphoma; in those cases, 3q rearrangements can be isolated or associated with a t(14;18) translocation |
| Phenotype / cell stem origin | B-cell |
| Epidemiology | 3q27 rearrangements present in 25 to 30 % of DLCL; about 10 % of follicular lymphoma |
| Clinics | mainly adult aggressive lymphoma |
| Treatment | intensive chemotherapy |
| Prognosis | controversial |
| Cytogenetics |
| Cytogenetics Morphological | t(2;3) and t(3;22) are easily identified; t(3 ;14) is telomeric and difficult to see, especially when using G banding |
| Cytogenetics Molecular | some cosmid and YAC probes have been developed |
| Additional anomalies | very frequent, as usual in NHL, involving chromosome 1, del(6q), 10q, 11q, 12q, 13q, 17p arms |
| Variants | large number of recurring defects involving the 3q27 region: t(3;4)(q27;p13), t(3;6)(q27;p22), t(3;7)(q27;p13), t(3;8)(q27;q24), t(3;11)(q27;q23), t(3;13)(q27;q14), t(3;15)(q27;q22), t(3;17)(q27;q11). |
| Genes involved and Proteins |
| Note | BCL 6 (see below) with various partners: immunoglobulin genes IgH (mainly Sμ region) in 14q32, IgK in 2p12, and IgL in 22q11; (for variant translocations, partners are: RHOH in the t(3;4), histone H1F1 in the t(3;6), OBF1 in the t(3;11), LCP1 in the t(3;13); in these cases, the first non-coding exon of the partner gene fuses with the second exon of BCL6, resulting in the deregulated expression of a chimerical transcript and the production of a normal BCL6 protein) |
| Gene Name | BCL6 (B-Cell Lymphoma 6) |
| Location | 3q27.3 |
| Dna / Rna | 10 exons; alternative splicing of exons 1 (1a and 1b), without modification of the open reading frame |
| Protein | transcription factor; belongs to the Krüppel family, with a N-term BTB/POZ domain and 6 zinc fingers; transcription repressor. |
| Result of the chromosomal anomaly |
| Description | no fusion protein, but promoter exchange; the immunoglobulin gene promoter controls the expression of the BCL6 gene. |
| Oncogenesis | deregulated protein expression; alternative deregulation mechanisms: deletion of regulating sequences, mutations. |
| Bibliography |
| Identification of the gene associated with the recurring chromosomal translocations t(3;14)(q27;q32) and t(3;22)(q27;q11) in B-cell lymphomas. |
| Baron BW, Nucifora G, McCabe N, Espinosa R 3rd, Le Beau MM, McKeithan TW |
| Proceedings of the National Academy of Sciences of the United States of America. 1993 ; 90 (11) : 5262-5266. |
| PMID 8506375 |
| LAZ3 rearrangements in non-Hodgkin's lymphoma: correlation with histology, immunophenotype, karyotype, and clinical outcome in 217 patients. |
| Bastard C, Deweindt C, Kerckaert JP, Lenormand B, Rossi A, Pezzella F, Fruchart C, Duval C, Monconduit M, Tilly H |
| Blood. 1994 ; 83 (9) : 2423-2427. |
| PMID 8167331 |
| Translocations involving band 3q27 and Ig gene regions in non-Hodgkin's lymphoma. |
| Bastard C, Tilly H, Lenormand B, Bigorgne C, Boulet D, Kunlin A, Monconduit M, Piguet H |
| Blood. 1992 ; 79 (10) : 2527-2531. |
| PMID 1586704 |
| Cloning of a breakpoint cluster region at band 3q27 involved in human non-Hodgkin's lymphoma. |
| Deweindt C, Kerckaert JP, Tilly H, Quief S, Nguyen VC, Bastard C |
| Genes, chromosomes & cancer. 1993 ; 8 (3) : 149-154. |
| PMID 7509622 |
| LAZ3, a novel zinc-finger encoding gene, is disrupted by recurring chromosome 3q27 translocations in human lymphomas. |
| Kerckaert JP, Deweindt C, Tilly H, Quief S, Lecocq G, Bastard C |
| Nature genetics. 1993 ; 5 (1) : 66-70. |
| PMID 8220427 |
| Gene involved in the 3q27 translocation associated with B-cell lymphoma, BCL5, encodes a Krüppel-like zinc-finger protein. |
| Miki T, Kawamata N, Hirosawa S, Aoki N |
| Blood. 1994 ; 83 (1) : 26-32. |
| PMID 8274740 |
| Rearrangement of the bcl-6 gene as a prognostic marker in diffuse large-cell lymphoma. |
| Offit K, Lo Coco F, Louie DC, Parsa NZ, Leung D, Portlock C, Ye BH, Lista F, Filippa DA, Rosenbaum A |
| The New England journal of medicine. 1994 ; 331 (2) : 74-80. |
| PMID 8208268 |
| Alterations of a zinc finger-encoding gene, BCL-6, in diffuse large-cell lymphoma. |
| Ye BH, Lista F, Lo Coco F, Knowles DM, Offit K, Chaganti RS, Dalla-Favera R |
| Science (New York, N.Y.). 1993 ; 262 (5134) : 747-750. |
| PMID 8235596 |
| Cloning of bcl-6, the locus involved in chromosome translocations affecting band 3q27 in B-cell lymphoma. |
| Ye BH, Rao PH, Chaganti RS, Dalla-Favera R |
| Cancer research. 1993 ; 53 (12) : 2732-2735. |
| PMID 8504412 |
| Citation |
| This paper should be referenced as such : |
| Bastard, C |
| t(3;14)(q27;q32) - t(2;3)(p12;q27) - t(3;22)(q27;q11) |
| Atlas Genet Cytogenet Oncol Haematol. 1998;2(4):122-124. |
| Free journal version : [ pdf ] [ DOI ] |
| On line version : http://AtlasGeneticsOncology.org/Anomalies/t314ID2004.html |
| Other genes implicated (Data extracted from papers in the Atlas) [ 7 ] |
| Genes | BCL6 | BCL6 | BCL6 | BCL6 | IGH | IGK | IGL |
| Translocations implicated (Data extracted from papers in the Atlas) |
| t(2;3)(p12;q27) | |
| t(3;14)(q27;q32) | |
| t(3;22)(q27;q11) IGL/BCL6 | |
| External links |
| 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 : Tue Sep 26 12:36:45 CEST 2017 |
For comments and suggestions or contributions, please contact us