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t(9;14)(p13;q32) PAX5::IGH

Written2002-10Bruce Poppe, Pascale De Paepe, Frank Speleman
Center for Medical Genetics, Ghent University Hospital MRB, De Pintelaan 185, 9000 Ghent, Belgium

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Atlas_Id 2018
  t(9;14)(p13;q32) PAX5/IGH G- banding Upper row left: -Courtesy Bruce Poppe, Pascale De Paepe, Frank Speleman, middle - Courtesy Jean-Luc Lai, Middle row - Courtesy Diane H. Norback, Eric B. Johnson, Sara Morrison-Delap. Bottom row: R-banded karyotype and (right) FISH using dual color break apart probe PAX5/9p13 (Empire genomics) - Courtesy Karolien Beel, Peter Meeus, Geneviève Ameye and Lucienne Michaux

Clinics and Pathology

Disease Rare recurrent chromosomal aberration, exclusively detected in B-cell lymphoproliferative disorders.
Phenotype / cell stem origin B lymphocyte.
Epidemiology Originally reported to be associated with a low-grade mature B-cell phenotype with plasmacytoid differentiation such as lymphoplasmacytic lymphoma, multiple myeloma/ plasma cell leukemia and chronic lymphocytic leukemia. However, the relatively frequent occurrence in diffuse large B-cell lymphoma, with or without a preceding faze of a low-grade lymphoma, suggests that this chromosomal aberration has a much wider clinical spectrum or is associated with disease progression. In addition, the t(9;14)(p13;q32) has been described occasionally in follicular lymphoma, mantle cell lymphoma and splenic marginal zone lymphoma.
Prognosis No prognostic relevance has been attributed to the presence of the t(9;14)(p13;q32).


Cytogenetics Morphological The t(9;14)(p13;q32) is readily recognisable with G- as well as R-banding. The presence of complex chromosomal aberrations, however, can mask the presence of this rearrangement.
  Dual and triple colour hybridisations demonstrating the presence of a t(9;14)(p13;q32) resulting in PAX5/IGH rearrangement. A,B: partial metaphase and interphase nucleus cohybridized with PAX5 locus specific probes (yellow) and dual colour interphaze cytogenetics using IgH flanking probes (red) and PAX5 locus specific probes.
Additional anomalies No recurrent additional aberrations have been described. However, the majority of t(9;14)(p13;q32) have been reported in addition to complex chromosomal aberrations.
Variants In addition to the t(9;14)(p13;q32), other translocations presumably involving the immunoglobulin light chain genes and PAX5 have been reported, such as the t(2;9)(p12;p13) and the t(9;22)(p13;q11).

Genes involved and Proteins

Gene NameIGH (Immunoglobulin Heavy)
Location 14q32.33
Gene NamePAX5 (paired box gene 5)
Location 9p13.2
Dna / Rna The PAX5 coding region extends over a genomic interval of approximately 200kb and comprises 10 exons. Two alternative transcripts have been identified, originating from alternative promotor usage, containing exon 1A or 1B. Full length mRNA is 3650bp.
Protein PAX5 belongs to the paired box family of transcription factors, involved in a multitude of developmental processes. PAX5 was originally identified as a B-cell specific transcription factor (hence its original name, BSAP). Recently it has been shown that PAX5 expression is continuously required in B cell lineage commitment during early B cell development.

Result of the chromosomal anomaly

Hybrid gene
Description Translocation of the entire PAX5 gene to chromosome 14. The breakpoints at 9p13 are heterogeneous and can reside up to 200kb upstream (i.e. centromeric) of PAX5.
Detection The variability of the chromosomal breakpoints at 9p13 as well 14q32 precludes genomic PCR approaches for detection of IgH PAX5 juxtaposition. In addition, the expression pattern of PAX5 hampers RT-PCR methods for demonstrating elevated PAX5 expression in B-cell proliferations with suspected or proven PAX5 rearrangement. Currently, the only methods for detecting IgH PAX5 juxtaposition reliably include conventional and molecular cytogenetics.
Fusion Protein
Description In analogy to other 14q32 rearrangements, no fusion gene is created by the translocation. Rather, the genomic rearrangement leads to forced PAX5 expression.
Oncogenesis In contrast to the novel insights in the role of PAX5 in B-cell lineage commitment, little is know on the role of PAX5 in the malignant transformation of B cells. The recent demonstration of PAX5 hypermutation in diffuse large-cell lymphomas, in addition to PAX5 overexpression associated with the t(9;14), suggest that PAX5 acts as a dominant oncogene.

To be noted

Case Report B-cell acute lymphoblastic leukemia with t(2;9)(p11;p13) involving the immunoglobulin kappa locus (IGK) and PAX-5


High incidence of cryptic translocations involving the Ig heavy chain gene in multiple myeloma, as shown by fluorescence in situ hybridization.
Avet-Loiseau H, Brigaudeau C, Morineau N, Talmant P, Laï JL, Daviet A, Li JY, Praloran V, Rapp MJ, Harousseau JL, Facon T, Bataille R
Genes, chromosomes & cancer. 1999 ; 24 (1) : 9-15.
PMID 9892103
A novel B-cell lineage-specific transcription factor present at early but not late stages of differentiation.
Barberis A, Widenhorn K, Vitelli L, Busslinger M
Genes & development. 1990 ; 4 (5) : 849-859.
PMID 2116362
Deregulation of PAX-5 by translocation of the Emu enhancer of the IgH locus adjacent to two alternative PAX-5 promoters in a diffuse large-cell lymphoma.
Busslinger M, Klix N, Pfeffer P, Graninger PG, Kozmik Z
Proceedings of the National Academy of Sciences of the United States of America. 1996 ; 93 (12) : 6129-6134.
PMID 8650231
The t(9;14)(p13;q32) chromosomal translocation associated with lymphoplasmacytoid lymphoma involves the PAX-5 gene.
Iida S, Rao PH, Nallasivam P, Hibshoosh H, Butler M, Louie DC, Dyomin V, Ohno H, Chaganti RS, Dalla-Favera R
Blood. 1996 ; 88 (11) : 4110-4117.
PMID 8943844
Reversion of B cell commitment upon loss of Pax5 expression.
Mikkola I, Heavey B, Horcher M, Busslinger M
Science (New York, N.Y.). 2002 ; 297 (5578) : 110-113.
PMID 12098702
Commitment to the B-lymphoid lineage depends on the transcription factor Pax5.
Nutt SL, Heavey B, Rolink AG, Busslinger M
Nature. 1999 ; 401 (6753) : 556-562.
PMID 10524622
t(9;14)(p13;q32) denotes a subset of low-grade non-Hodgkin's lymphoma with plasmacytoid differentiation.
Offit K, Parsa NZ, Filippa D, Jhanwar SC, Chaganti RS
Blood. 1992 ; 80 (10) : 2594-2599.
PMID 1384792
The t(9;14)(p13;q32) translocation in B-cell non-Hodgkin's lymphoma.
Ohno H, Ueda C, Akasaka T
Leukemia & lymphoma. 2000 ; 36 (5-6) : 435-445.
PMID 10784387
Hypermutation of multiple proto-oncogenes in B-cell diffuse large-cell lymphomas.
Pasqualucci L, Neumeister P, Goossens T, Nanjangud G, Chaganti RS, Küppers R, Dalla-Favera R
Nature. 2001 ; 412 (6844) : 341-346.
PMID 11460166
Detection of illegitimate rearrangement within the immunoglobulin locus on 14q32.3 in B-cell malignancies using end-sequenced probes.
Poulsen TS, Silahtaroglu AN, Gissel&oring; CG, Gaarsdal E, Rasmussen T, Tommerup N, Johnsen HE
Genes, chromosomes & cancer. 2001 ; 32 (3) : 265-274.
PMID 11579466


This paper should be referenced as such :
Poppe, B ; De, Paepe P ; Speleman, F
Atlas Genet Cytogenet Oncol Haematol. 2003;7(1):35-37.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 2 ]

Genes IGH PAX5

Translocations implicated (Data extracted from papers in the Atlas)

 t(9;14)(p13;q32) PAX5/IGH

External links

Mitelman databaset(9;14)(p13;q32)
arrayMap (UZH-SIB Zurich)[select an item]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
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