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t(3;7)(q27;p12-13)

Clinics and Pathology

Disease non Hodgkin lymphoma (NHL)
Phenotype / cell stem 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

Cytogenetics

Additional anomalies del(6) in two cases, del(13q) in two cases, +16 in two cases, +12 in one case

Genes involved and Proteins

Gene Name BCL6 (link)
Location 3q27
Protein transcription factor; belongs to the KrŸppel family, with a N-term BTB/POZ domain and 6 zinc fingers; transcription repressor
Gene Name ZNFN1A1 (Ikaros)
Location 7p12
Protein 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

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

To be noted

Additional cases are needed to delineate the epidemiology of this rare entity:
you are welcome to submit a paper to our new Case Report section.

Bibliography

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The role of the Ikaros gene in lymphocyte development and homeostasis.
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Ikaros in hemopoietic lineage determination and homeostasis.
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PMID 9618757
 
A recurrent nonrandom translocation (3;7)(q27;p12) associated with BCL-6 gene rearrangement in B-cell diffuse large cell lymphoma.
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PMID 9648553
 
Frequent 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, Arif M, Eguchi M, Guo SX, Hayashi Y, Asaoku H, Kyo T, Dohy H, Kamada N
Leukemia : official journal of the Leukemia Society of America, Leukemia Research Fund, U.K. 1999 ; 13 (9) : 1367-1373.
PMID 10482987
 
The 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, Maeda Y, Ichinohasama R, Miura I, Taniwaki M, Seto M
Blood. 2000 ; 95 (8) : 2719-2721.
PMID 10753856
 
Ikaros isoform x is selectively expressed in myeloid differentiation.
Payne KJ, Huang G, Sahakian E, Zhu JY, Barteneva NS, Barsky LW, Payne MA, Crooks GM
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PMID 12626565
 
Upstream of Ikaros.
Liberg D, Smale ST, Merkenschlager M
Trends in immunology. 2003 ; 24 (11) : 567-570.
PMID 14596876
 

Contributor(s)

Written09-2005Jean Loup Huret

Citation

This paper should be referenced as such :
Huret JL . t(3;7)(q27;p12-13). Atlas Genet Cytogenet Oncol Haematol. Septem ber 2005 .
URL : http://AtlasGeneticsOncology.org/Genes/t0307q27p12ID2010.html

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indexed on : Sat Dec 6 18:02:23 2008


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