t(3;9)(q27;p24) DMRT1/BCL6
2012-12-01 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
Clinics
The t(3;9)(q27;p24) was found in a gastric lymphoma, from a study with no individual data (Chen et al., 2006).
Genes Involved and Proteins
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
DMRT1 (doublesex and mab-3 related transcription factor 1)
Location
9p24.3
Protein description
Transcription factor that plays a key role in male sex determination in various animal species including homo sapiens (Herpin and Schartl, 2011). Susceptibility locus for testicular germ cell tumor (Turnbull et al., 2010).
Result of the Chromosomal Anomaly
Description
The breakpoint in DMRT1 is between exons 3 and 4, and between exon 1 and 2 in BCL6. 5 DMRT1-3 BCL6.
Article Bibliography
| Pubmed ID | Last Year | Title | Authors |
|---|---|---|---|
| 12555064 | 2003 | Ambivalent role of BCL6 in cell survival and transformation. | Albagli-Curiel O et al |
| 16772602 | 2006 | High BCL6 expression predicts better prognosis, independent of BCL6 translocation status, translocation partner, or BCL6-deregulating mutations, in gastric lymphoma. | Chen YW et al |
| 21281449 | 2011 | Dmrt1 genes at the crossroads: a widespread and central class of sexual development factors in fish. | Herpin A et al |
| 20543847 | 2010 | Variants near DMRT1, TERT and ATF7IP are associated with testicular germ cell cancer. | Turnbull C et al |
Summary
Fusion gene
DMRT1/BCL6 DMRT1 (9p24.3) BCL6 (3q27.3) M|DMRT1/BCL6 DMRT1 (9p24.3) BCL6 (3q27.3) M t(3;9)(q27;p24)
Citation
Jean-Loup Huret
t(3;9)(q27;p24) DMRT1/BCL6
Atlas Genet Cytogenet Oncol Haematol. 2012-12-01
Online version: http://atlasgeneticsoncology.org/haematological/1488/t(3;9)(q27;p24)-dmrt1-bcl6
Historical Card
2009-07-01 t(3;9)(q27;p24) DMRT1/BCL6 by Jean-Loup Huret Affiliation
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France
