t(3;9)(q27;p24) DMRT1/BCL6

2012-12-01   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

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.

Bibliography

Pubmed IDLast YearTitleAuthors
125550642003Ambivalent role of BCL6 in cell survival and transformation.Albagli-Curiel O et al
167726022006High BCL6 expression predicts better prognosis, independent of BCL6 translocation status, translocation partner, or BCL6-deregulating mutations, in gastric lymphoma.Chen YW et al
212814492011Dmrt1 genes at the crossroads: a widespread and central class of sexual development factors in fish.Herpin A et al
205438472010Variants 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 

Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

External Links