t(3;3)(q27;q29) TFRC/BCL6

2009-05-01   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 (NHL).

Epidemiology

Four cases to date: a follicular mixed cell lymphoma in a 78-year-old female patient, a grade 3B follicular lymphoma in a female patient, a gastric lymphoma, and a diffuse large B-cell lymphoma (DLCL) (Yunis et al., 1984; Bosga-Bouwer et al., 2003; Chen et al., 2006; Yoshida et al., 1999).

Prognosis

No data.

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).
Gene name
TFRC (transferrin receptor (p90, CD71))
Location
3q29
Protein description
760 amino acids; composed of an NH2-term cytoplasmic domain (amino acids 1-67), a transmembrane domain (aa 68-88), and a C term extracellular domain (aa 89-706) according to Swiss-Prot. Cell surface membrane glycoprotein; involved in iron homeostasis by regulating cellular iron uptake (Dorak, 2008).

Result of the Chromosomal Anomaly

Description

5 TFRC - 3 BCL6, with a breakpoint in BCL6 between exon 1 and 2 (Yoshida et al., 1999); the breakpoint on TFRC was found 288 bp 3 downstream of the breakpoint in the other case studied with molecular techniques (Chen et al., 2006).

Article Bibliography

Pubmed IDLast YearTitleAuthors
125550642003Ambivalent role of BCL6 in cell survival and transformation.Albagli-Curiel O et al
125292932003Follicular lymphoma grade 3B includes 3 cytogenetically defined subgroups with primary t(14;18), 3q27, or other translocations: t(14;18) and 3q27 are mutually exclusive.Bosga-Bouwer AG 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
106375101999Identification of heterologous translocation partner genes fused to the BCL6 gene in diffuse large B-cell lymphomas: 5'-RACE and LA - PCR analyses of biopsy samples.Yoshida S et al
64671791984Recurrent chromosomal defects are found in most patients with non-Hodgkin's-lymphoma.Yunis JJ et al

Summary

Fusion gene

TFRC/BCL6 TFRC (3q29) BCL6 (3q27.3) M t(3;3)(q27;q29) t(3;3)(q29;q27)|TFRC/BCL6 TFRC (3q29) BCL6 (3q27.3) TIC

Citation

Jean-Loup Huret

t(3;3)(q27;q29) TFRC/BCL6

Atlas Genet Cytogenet Oncol Haematol. 2009-05-01

Online version: http://atlasgeneticsoncology.org/haematological/2087/js/favicon/hgnc