t(3;16)(q27;p11) IL21R/BCL6
2005-09-01 Jean-Loup Huret Affiliation1.Genetics, Dept Medical Information, University of Poitiers; CHU Poitiers Hospital, F-86021 Poitiers, France
Clinics and Pathology
Disease
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 ID | Last Year | Title | Authors |
|---|---|---|---|
| 9614912 | 1998 | Translocation (3;16)(q27;p11) in a patient with diffuse large B-cell lymphoma associated with the BCL-6 gene rearrangement. | Ichinohasama R et al |
| 11821949 | 2002 | The 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
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/t(3;16)(q27;p11)-il21r-bcl6
