t(3;16)(q27;p11) IL21R/BCL6

2005-09-01   Jean-Loup Huret  

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

Clinics and Pathology

Disease

Diffuse large cell lymphoma

Epidemiology

only one case to date, a 64 yr old male patient

Evolution

complete remission was obtained.

Genes Involved and Proteins

Gene name
BCL6 (B-Cell Lymphoma 6)
Location
3q27.3
Dna rna description
spans on 25 kb;. 11 exons
Protein description
sequence-specific DNA binding transcriptional repressor
Gene name
IL21R (interleukin 21 receptor)
Location
16p12.1
Dna rna description
spans on 48 kb;. 10 exons
Protein description
IL21R is, in fact, an heterodimer made of IL21R-alpha, and the common gamma chain (CD132); IL21Ra is the private receptor of IL21; IL21/IL21R, selectively expressed in lymphoid cells, activates the JAK/STAT transcription signaling pathway; IL21/IL21R plays a role in proliferation, differenciation of T cells, B cells, natural killers (NK) cells, and dendritic cells.; promotes and inhibit immune responses

Result of the Chromosomal Anomaly

Description

The IL21R promoter region replaces the regulatory sequences of BCL6; the chimeric mRNA consists of the 2 non coding exons 1a/1b of IL21R and the coding exons of BCL6

Oncogenesis

enhanced expression of BCL6

Article Bibliography

Pubmed IDLast YearTitleAuthors
96149121998Translocation (3;16)(q27;p11) in a patient with diffuse large B-cell lymphoma associated with the BCL-6 gene rearrangement.Ichinohasama R et al
118219492002The gene for interleukin-21 receptor is the partner of BCL6 in t(3;16)(q27;p11), which is recurrently observed in diffuse large B-cell lymphoma.Ueda C et al

Summary

Fusion gene

IL21R/BCL6 IL21R (16p12.1) BCL6 (3q27.3) M|IL21R/BCL6 IL21R (16p12.1) BCL6 (3q27.3) M t(3;16)(q27;p12)|IL21R/BCL6 IL21R (16p12.1) BCL6 (3q27.3) TIC
Atlas Image
t(3;16)(q27;p11) G- banding - Courtesy Melanie Zenger and Claudia Haferlach.

Citation

Jean-Loup Huret

t(3;16)(q27;p11) IL21R/BCL6

Atlas Genet Cytogenet Oncol Haematol. 2005-09-01

Online version: http://atlasgeneticsoncology.org/haematological/1357/tumors-explorer/gene-explorer/