t(3;7)(q27;p12) IKZF1/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

non Hodgkin lymphoma (NHL)

Phenotype stem cell origin

2 cases of diffuse large B-cell lymphoma (DLBL) with BCL6/ZNFN1A1 involvement, 1 NHL with BCL6 involvement, 1 follicular, predominantly large cell B-NHL and one T-NHL without gene ascertainement

Epidemiology

5 cases to date, aged 40-70 yrs, sex ration: 3M:1F

Prognosis

The 2 patients with BCL6/ZNFN1A1 involvement died at 16 and 17 mths after diagnosis

Genes Involved and Proteins

Gene name
BCL6 (B-Cell Lymphoma 6)
Location
3q27.3
Protein description
transcription factor; belongs to the Krüppel family, with a N-term BTB/POZ domain and 6 zinc fingers; transcription repressor
Gene name
IKZF1 (Ikaros family zinc finger 1)
Location
7p12.2
Protein description
transcription regulator; can repress transcription through the recruitment of histone deacetylase complexes; role in conjunction with Aiolos; hemopoietic-specific zinc finger protein regulator of B and T-cell differentiation

Result of the Chromosomal Anomaly

Description

5 Ikaros - 3 BCL6 fusion transcript; it is supposed that substitution of the promoter of BCL6 may be responsible for BCL6 deregulation

Article Bibliography

Pubmed IDLast YearTitleAuthors
81673311994LAZ3 rearrangements in non-Hodgkin's lymphoma: correlation with histology, immunophenotype, karyotype, and clinical outcome in 217 patients.Bastard C et al
91436851997The role of the Ikaros gene in lymphocyte development and homeostasis.Georgopoulos K et al
107538562000The Ikaros gene, a central regulator of lymphoid differentiation, fuses to the BCL6 gene as a result of t(3;7)(q27;p12) translocation in a patient with diffuse large B-cell lymphoma.Hosokawa Y et al
96485531998A recurrent nonrandom translocation (3;7)(q27;p12) associated with BCL-6 gene rearrangement in B-cell diffuse large cell lymphoma.Ichinohasama R et al
23284951990Chromosome abnormalities in malignant lymphoma in patients from Kurashiki: histological and immunophenotypic correlations.Konishi H et al
145968762003Upstream of Ikaros.Liberg D et al
96187571998Ikaros in hemopoietic lineage determination and homeostasis.Nichogiannopoulou A et al
126265652003Ikaros isoform x is selectively expressed in myeloid differentiation.Payne KJ et al
104829871999Frequent allelic loss of the RB, D13S319 and D13S25 locus in myeloid malignancies with deletion/translocation at 13q14 of chromosome 13, but not in lymphoid malignancies.Tanaka K et al

Citation

Jean-Loup Huret

t(3;7)(q27;p12) IKZF1/BCL6

Atlas Genet Cytogenet Oncol Haematol. 2005-09-01

Online version: http://atlasgeneticsoncology.org/haematological/2010/haematological-explorer/case-report-explorer/gene-fusions-explorer