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

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/favicon/manifest.json

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