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t(14;15)(q32;q11) IGH/NBEAP1

Written2008-07Silvia Rasi, Gianluca Gaidano
Division of Hematology, Department of Clinical, Experimental Medicine & Center of Biotechnologies for Applied Medical Research, Amedeo Avogadro University of Eastern Piedmont, Via Solaroli 17, 28100 Novara, Italy

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Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
Atlas_Id 1349

Clinics and Pathology

Disease Diffuse large B-cell lymphoma (DLBCL). DLBCL is a molecularly heterogeneous type of aggressive lymphoma, accounting for approximately 40% of all B-cell non-Hodgkin lymphomas (NHL) of the Western world. Translocations involving the chromosomal region 15q11-13 also have been identified in nonlymphoid tumors.
Phenotype / cell stem origin B-cell. The chromosomal translocation t(14;15)(q32;q11-13) can activate BCL8 gene expression in lymphoid tissues, whereas BCL8 expression is not normally found in hematopoietic tissues.
Epidemiology Translocations affecting 15q11-q13 and various chromosomal partners occur in about 3-4% of DLBCL.
Clinics At present, it is not not yet clear whether chromosomal translocation (t14;15) identifies a homogeneous.
Pathology Clinico-pathologic subtype of DLBCL.
Prognosis The effect of BCL8 expression on the prognosis of patients has yet to be investigated.

Cytogenetics

Additional anomalies DLBCL is a heterogeneous disease with respect to karyotypic abnormalities. t(14;15)(q32;q11-13)is a rare chromosomal translocation restricted to 4-5% DLBCL. The most frequent cytogenetic abnormalities detected in DLBCL involve BCL6 t(3;V)(q27;V), BCL2 t(14;18)(q32;q21), and myc t(8;14)(q24;q32), and occur in 25%, 20% and 10% of DLBCL, respectively.
Variants In addition to IGHV gene translocation, other translocations of the chromosomal region 15q11-13 involve additional chromosomal sites, including 22q11 (IGLV), 9p13, 1p32,7p13, 12q24, and 15q22.

Genes involved and Proteins

Gene Name IGH
Location 14q32
Dna / Rna IgH gene is composed of V (variable), D (diversity), J (joining), and C (constant) segments. During B cell development, a recombination event at the DNA level creates a rearranged IGHV-D-J gene.
Protein Proteins encoded by the IgH gene are the immunoglobulin heavy chains.
Gene Name NBEAP1
Location 15q11-q13
Dna / Rna 3 exons. The 5'part of exon 1 and the 3'part of exon 3 are non coding. Two alternative transcripts: a major transcript of 2.6Kb, and a less expressed transcript of 4.5Kb, due to differential polyadenylation.
Protein 100 amino acids, predicted molecular weight of 19 kDa; predicted: similar to protein neurobeachin (Lysosomal trafficking regulator 2). Truncated polypeptides with uncertain function are also produced.

Result of the chromosomal anomaly

Hybrid gene
Description The translocation t(14;15)(q32;q11-13) leaves the coding region of BCL8 gene intact, and does not lead to the formation of a hybrid gene. BCL8 is adjacent to the chromosomal breakpoint, that is located upstream of a rearranged VH segment. BCL8 is a part of a large duplicated region within 15q11 containing several pseudogenes, including orphan IGH copies of V and D segments and it's possible that this V/D segments can rearrange with D/J segments on chromosome 14.
  
Fusion Protein
Description the chromosomal translocation does not lead to the formation of a fusion protein.
Oncogenesis t(14;15)(q32;q11-13) causes activation of the BCL8 proto-oncogene by deregulated expression of BCL8. This chromosomal translocation may contribuite to lymphomagenesis by alterated expression level of BCL8.
  

Bibliography

BCL8 is a novel, evolutionarily conserved human gene family encoding proteins with presumptive protein kinase A anchoring function.
Dyomin VG, Chaganti SR, Dyomina K, Palanisamy N, Murty VVVS, Dalla Favera R, Chaganti RSK.
Genomics. 2002; 80(2): 158-165.
PMID 12160729
 
Bcl8, a novel gene involved in translocations affecting band 15q11-13 in diffuse large-cell lymphoma.
Dyomin VG, Rao PH, Dalla Favera R, Chaganti RSK.
Proc Natl Acad Sci USA. 1997; 94: 5728-5732.
PMID 9159141
 
Non-Hodgkin's Lymphoma: Molecular Features of B Cell Lymphoma.
Macintyre E, Willerford D, Morrsi SW.
Hematology Am Soc Hematol Educ Program. 2000; 180-204.
PMID 11701542
 
Molecular heterogeneity of diffuse large B-cell lymphoma: implications for disease management and prognosis.
Rossi D, Gaidano G.
Hematology. 2002; 7(4): 239-252.
PMID 14972786
 

Citation

This paper should be referenced as such :
Rasi, S ; Gaidano, G
t(14;15)(q32;q11-13)
Atlas Genet Cytogenet Oncol Haematol. 2009;13(7):513-514.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t1415q32q12ID1349.html


Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes NBEAP1

Translocations implicated (Data extracted from papers in the Atlas)

 t(14;15)(q32;q11) IGH/NBEAP1

External links

arrayMap (UZH-SIB Zurich)
Mitelman databaset(14;15)(q32;q11) [Case List]    t(14;15)(q32;q11) [Association List] Mitelman database (CGAP - NCBI)
arrayMap[select an item]
 
 
Disease databaset(14;15)(q32;q11) IGH/NBEAP1
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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