t(3;12)(q27;p12) LRMP/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;12)(q27;p12) was found in a case of follicular lymphoma transformed to diffuse aggressive lymphoma, from a study with no individual data (Akasaka et al., 2003).

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
LRMP (lymphoid restricted membrane protein)
Location
12p12.1
Protein description
LRMP is an integral membrane protein of the endoplasmic reticulum (ER), oriented on the ER membrane facing the cytosol. It is a lymphoid-restricted gene that is expressed in a developmentally regulated fashion (Behrens et al., 1994). It may be involved in diabetes susceptibility (Grimm et al., 2003). A V141L polymorphism of LRMP has been found associated with a higher mortality in patients with lung cancer (Manenti et al., 2006). LRMP has recently been found involved in a translocation t(8;12)(q24;p12) with a LRMP/MYC fusion gene in non Hodgkin lymphoma (Singh et al., 2012).

Result of the Chromosomal Anomaly

Description

Breakpoint in BCL6 first intron.

Bibliography

Pubmed IDLast YearTitleAuthors
127386802003BCL6 gene translocation in follicular lymphoma: a harbinger of eventual transformation to diffuse aggressive lymphoma.Akasaka T et al
125550642003Ambivalent role of BCL6 in cell survival and transformation.Albagli-Curiel O et al
80215041994Jaw1, A lymphoid-restricted membrane protein localized to the endoplasmic reticulum.Behrens TW et al
145630182003Lrmp and Bcat1 are candidates for the type I diabetes susceptibility locus Idd6.Grimm CH et al
164102632006A V141L polymorphism of the human LRMP gene is associated with survival of lung cancer patients.Manenti G et al
219965572012Identification of a novel non-immunoglobulin/MYC translocation t(8;12)(q24;p12) involving the LRMP gene in a primary B-cell lymphoma. A case report.Singh RR et al

Summary

Fusion gene

LRMP/BCL6 LRMP (12p12.1) BCL6 (3q27.3) M|LRMP/BCL6 LRMP (12p12.1) BCL6 (3q27.3) M t(3;12)(q27;p12)

Citation

Jean-Loup Huret

t(3;12)(q27;p12) LRMP/BCL6

Atlas Genet Cytogenet Oncol Haematol. 2012-12-01

Online version: http://atlasgeneticsoncology.org/haematological/2129/t(3;12)(q27;p12)

External Links