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dic(7;9)(p11-12;p12-13) PAX5/LOC392027

Written2010-02Jean-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 1554
Note See also the paper on dic(9;20)(p11-13;q11).

Clinics and Pathology

Disease Acute lymphoblastic leukaemia (ALL).
Phenotype / cell stem origin B-cell precursor ALL.
Epidemiology 13 cases to date; sex ratio was 7M/6F, median age was 17 years (range 2-51 years) (An et al., 2008).
Prognosis No data.

Cytogenetics

Additional anomalies The dic(7;9) was the sole anomaly in 8 cases, accompanied a t(9;22) with BCR-ABL1 involvement in 3 cases, and was accompanied with other anomaly in 2 other cases, including a

Genes involved and Proteins

Gene NameLOC392027 (ribosome binding protein 1 homolog 180kDa (dog) pseudogene)
Location 7p12.1
Protein Ribosome-binding protein 1 pseudogene.
Gene NamePAX5 (paired box gene 5)
Location 9p13.2
Protein 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).

Result of the chromosomal anomaly

Hybrid gene
Description Break in PAX5 intron 4. Out of frame fusion of 5' PAX5 - 3' LOC392027.
  
Fusion Protein
 
Description The predicted fusion protein contains the DNA binding paired domain of PAX5.
Oncogenesis Loss of function of PAX5 is likely to be the oncogenic event.
  

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

Variable breakpoints target PAX5 in patients with dicentric chromosomes: a model for the basis of unbalanced translocations in cancer.
An Q, Wright SL, Konn ZJ, Matheson E, Minto L, Moorman AV, Parker H, Griffiths M, Ross FM, Davies T, Hall AG, Harrison CJ, Irving JA, Strefford JC.
Proc Natl Acad Sci U S A. 2008 Nov 4;105(44):17050-4. Epub 2008 Oct 28.
PMID 18957548
 
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.
PMID 17440452
 
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
 
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
 
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 :
Huret, JL
dic(7;9)(p11-12;p12-13) PAX5/LOC392027
Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1078-1079.
Free journal version : [ pdf ]   [ DOI ]
On line version : http://AtlasGeneticsOncology.org/Anomalies/dic0709p11p12ID1554.html


Translocations implicated (Data extracted from papers in the Atlas)

 dic(7;9)(p11;p12) PAX5/LOC392027

External links

PAX5 (9p13.2) LOC392027 (-)

Mitelman databasedic(7;9)(p11;p12) [Case List]    dic(7;9)(p11;p12) [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/LOC392027 [MCList]  PAX5 (9p13.2) LOC392027 (-)
 
Disease databasedic(7;9)(p11-12;p12-13) PAX5/LOC392027
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed


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