t(3;19)(q27;q13) NAPA/BCL6

2012-06-01   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

Two cases available : a case of follicular lymphoma transformed to diffuse aggressive lymphoma, from a study with no individual data (Akasaka et al., 2003), and a male patient aged 60 years with a diffuse large B-cell lymphoma (Yunis et al., 1984).

Genes Involved and Proteins

Note
Only the more recent case (Akasaka et al., 2003) was studied for gene rearrangements.
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
NAPA (N-ethylmaleimide-sensitive factor attachment protein, alpha)
Location
19q13.32
Protein description
295 amino acids; SNARE protein found in the endoplasmic reticulum and implicated in protein trafficking, which possesses anti-apoptotic properties by promoting resistance to cisplatin in cancer cells by inducing the degradation of TP53 (Wu et al., 2011).

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
219030922011Silencing of the SNARE protein NAPA sensitizes cancer cells to cisplatin by inducing ERK1/2 signaling, synoviolin ubiquitination and p53 accumulation.Wu ZZ et al
64671791984Recurrent chromosomal defects are found in most patients with non-Hodgkin's-lymphoma.Yunis JJ et al

Summary

Fusion gene

NAPA/BCL6 NAPA (19q13.32) BCL6 (3q27.3) M|NAPA/BCL6 NAPA (19q13.32) BCL6 (3q27.3) M t(3;19)(q27;q13)

Citation

Jean-Loup Huret

t(3;19)(q27;q13) NAPA/BCL6

Atlas Genet Cytogenet Oncol Haematol. 2012-06-01

Online version: http://atlasgeneticsoncology.org/haematological/2130/t(3;19)(q27;q13)

External Links