t(9;15)(p13;q24) PAX5/GOLGA6A

2014-06-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


B-cell acute lymphoblastic leukemia (B-ALL)


Was not taken into account in this review a case of diffuse large B-cell lymphoma in a 51 year-old male patient (Morrison et al., 1994).


One case to date, a 21-year-old male patient with a CD10+ (B-II, common) ALL (Coyaud et al., 2010).


No data.

Genes Involved and Proteins

Gene name
PAX5 (paired box gene 5)
Protein description
391 amino acids; from N-term to C-term, PAX5 contains: a paired domain (aa: 16-142); an octapeptide (aa: 179-186); a partial homeodomain (aa: 228-254); a transactivation domain (aa: 304-359); and an inhibitory domain (aa: 359-391). Lineage-specific transcription factor; recognizes the concensus recognition sequence GNCCANTGAAGCGTGAC, where N is any nucleotide. Involved in B-cell differentiation. Entry of common lymphoid progenitors into the B cell lineage depends on E2A, EBF1, and PAX5; activates B-cell specific genes and repress genes involved in other lineage commitments. Activates the surface cell receptor CD19 and repress FLT3. Pax5 physically interacts with the RAG1/RAG2 complex, and removes the inhibitory signal of the lysine-9-methylated histone H3, and induces V-to-DJ rearrangements. Genes repressed by PAX5 expression in early B cells are restored in their function in mature B cells and plasma cells, and PAX5 repressed (Fuxa et al., 2004; Johnson et al., 2004; Zhang et al., 2006; Cobaleda et al., 2007; Medvedovic et al., 2011).
Gene name
GOLGA6A (golgin A6 family member A)
Protein description
693 amino acids (aa); contains a coiled coil domain (aa 14-611), with 11 leucine zipper motifs (aa 360-430). Member of the golgin family of proteins, localizes to the Golgi apparatus. Its function is poorly known (Gilles et al., 2000).

Result of the Chromosomal Anomaly


Fusion of PAX5 exon 6 to GOLGA6A exon 3.
Atlas Image
PAX5/GOLGA6A fusion protein.


887 amino acids. The predicted fusion protein contains the DNA binding paired domain, the octapeptide, and the homeodomain of PAX5 and part of the coiled coil domain of GOLGA6A.


Pubmed IDLast YearTitleAuthors
174404522007Pax5: the guardian of B cell identity and function.Cobaleda C et al
201601642010Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study.Coyaud E et al
150040082004Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.Fuxa M et al
111617872000Cloning and characterization of a Golgin-related gene from the large-scale polymorphism linked to the PML gene.Gilles F et al
152585792004B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5.Johnson K et al
219709552011Pax5: a master regulator of B cell development and leukemogenesis.Medvedovic J et al
80371801994Prognostic factors for therapeutic outcome of diffuse small non-cleaved cell lymphoma in adults.Morrison VA et al
166801442006Transcription factor Pax5 (BSAP) transactivates the RAG-mediated V(H)-to-DJ(H) rearrangement of immunoglobulin genes.Zhang Z et al


Fusion gene

PAX5/GOLGA6A PAX5 (9p13.2) GOLGA6A (15q24.1) M t(9;15)(p13;q24)


Jean-Loup Huret

t(9;15)(p13;q24) PAX5/GOLGA6A

Atlas Genet Cytogenet Oncol Haematol. 2014-06-01

Online version: http://atlasgeneticsoncology.org/haematological/1596/t(9;15)(p13;q24)