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

Written2014-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

(Note : for Links provided by Atlas : click)

Identity

ICD-Topo C420,C421,C424 BLOOD, BONE MARROW, & HEMATOPOIETIC SYS
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1596

Clinics and Pathology

Disease B-cell acute lymphoblastic leukemia (B-ALL)
Note 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).
Epidemiology One case to date, a 21-year-old male patient with a CD10+ (B-II, common) ALL (Coyaud et al., 2010).
Prognosis No data.

Cytogenetics

Cytogenetics Morphological There were additional numerial anomalies (+5, +21).

Genes involved and Proteins

Gene NamePAX5 (paired box gene 5)
Location 9p13.2
Protein 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 NameGOLGA6A (golgin A6 family member A)
Location 15q24.1
Protein 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

Hybrid gene
Description Fusion of PAX5 exon 6 to GOLGA6A exon 3.
  
Fusion Protein
 
  PAX5/GOLGA6A fusion protein.
Description 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.
  

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

Pax5: the guardian of B cell identity and function.
Cobaleda C, Schebesta A, Delogu A, Busslinger M.
Nat Immunol. 2007 May;8(5):463-70. (REVIEW)
PMID 17440452
 
Wide diversity of PAX5 alterations in B-ALL: a Groupe Francophone de Cytogenetique Hematologique study.
Coyaud E, Struski S, Prade N, Familiades J, Eichner R, Quelen C, Bousquet M, Mugneret F, Talmant P, Pages MP, Lefebvre C, Penther D, Lippert E, Nadal N, Taviaux S, Poppe B, Luquet I, Baranger L, Eclache V, Radford I, Barin C, Mozziconacci MJ, Lafage-Pochitaloff M, Antoine-Poirel H, Charrin C, Perot C, Terre C, Brousset P, Dastugue N, Broccardo C.
Blood. 2010 Apr 15;115(15):3089-97. doi: 10.1182/blood-2009-07-234229. Epub 2010 Feb 16.
PMID 20160164
 
Pax5 induces V-to-DJ rearrangements and locus contraction of the immunoglobulin heavy-chain gene.
Fuxa M, Skok J, Souabni A, Salvagiotto G, Roldan E, Busslinger M.
Genes Dev. 2004 Feb 15;18(4):411-22.
PMID 15004008
 
Cloning and characterization of a Golgin-related gene from the large-scale polymorphism linked to the PML gene.
Gilles F, Goy A, Remache Y, Manova K, Zelenetz AD.
Genomics. 2000 Dec 15;70(3):364-74.
PMID 11161787
 
B cell-specific loss of histone 3 lysine 9 methylation in the V(H) locus depends on Pax5.
Johnson K, Pflugh DL, Yu D, Hesslein DG, Lin KI, Bothwell AL, Thomas-Tikhonenko A, Schatz DG, Calame K.
Nat Immunol. 2004 Aug;5(8):853-61. Epub 2004 Jul 18.
PMID 15258579
 
Pax5: a master regulator of B cell development and leukemogenesis.
Medvedovic J, Ebert A, Tagoh H, Busslinger M.
Adv Immunol. 2011;111:179-206. doi: 10.1016/B978-0-12-385991-4.00005-2. (REVIEW)
PMID 21970955
 
Prognostic factors for therapeutic outcome of diffuse small non-cleaved cell lymphoma in adults.
Morrison VA, Frizzera G, Arthur DC, Ogle KM, Hurd DD, Bloomfield CD, Peterson BA.
Am J Hematol. 1994 Aug;46(4):295-303.
PMID 8037180
 
Transcription factor Pax5 (BSAP) transactivates the RAG-mediated V(H)-to-DJ(H) rearrangement of immunoglobulin genes.
Zhang Z, Espinoza CR, Yu Z, Stephan R, He T, Williams GS, Burrows PD, Hagman J, Feeney AJ, Cooper MD.
Nat Immunol. 2006 Jun;7(6):616-24. Epub 2006 May 7.
PMID 16680144
 

Citation

This paper should be referenced as such :
JL Huret
t(9;15)(p13;q24) PAX5/GOLGA6A
Atlas Genet Cytogenet Oncol Haematol. 2015;19(2):148-149.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/t0915p13q24ID1596.html


Translocations implicated (Data extracted from papers in the Atlas)

 t(9;15)(p13;q24) PAX5/GOLGA6A

External links

PAX5 (9p13.2) GOLGA6A (15q24.1)

Mitelman databaset(9;15)(p13;q24) [Case List]    t(9;15)(p13;q24) [Association List] Mitelman database (CGAP - NCBI)
arrayMapTopo ( C42) Morph ( 9811/3) - arrayMap (UZH-SIB Zurich)  [auto + random 100 samples .. if exist ]   [tabulated segments]
 
Mitelman databasePAX5/GOLGA6A [MCList]  PAX5 (9p13.2) GOLGA6A (15q24.1)
 
Disease databaset(9;15)(p13;q24) PAX5/GOLGA6A
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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