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dic(9;12)(p13;p12) PAX5::SLCO1B3

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)


ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1555
Note While dic(9;12)(p13;p12) is usually associated with PAX5/ETV6 involvement, one case has been described with SLCO1B3 involvement instead of ETV6.
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 One case to date, a 1-year-old girl (An et al., 2008).
Prognosis No data.


Additional anomalies The dic(9;12) was the sole anomaly.

Genes involved and Proteins

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).
Gene NameSLCO1B3 (solute carrier organic anion transporter family member 1B3)
Location 12p12.2
Protein Multi-pass membrane protein. Organic anion transporting polypeptide. Mediates the transport for various molecules such as bile acids, steroids, thyroid hormones, and exogenous drugs. Normally expressed in the basolateral membrane of hepatocytes around the central vein (Hagenbuch and Meier, 2003; Briz et al., 2006).

Result of the chromosomal anomaly

Hybrid gene
Description Break in PAX5 intron 4. Out of frame fusion of 5' PAX5 - 3' SLCO1B3
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.


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
OATP8/1B3-mediated cotransport of bile acids and glutathione: an export pathway for organic anions from hepatocytes?
Briz O, Romero MR, Martinez-Becerra P, Macias RI, Perez MJ, Jimenez F, San Martin FG, Marin JJ.
J Biol Chem. 2006 Oct 13;281(41):30326-35. Epub 2006 Jul 28.
PMID 16877380
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
The superfamily of organic anion transporting polypeptides.
Hagenbuch B, Meier PJ.
Biochim Biophys Acta. 2003 Jan 10;1609(1):1-18.
PMID 12507753
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


This paper should be referenced as such :
Huret, JL
dic(9;12)(p13;p12) PAX5/SLCO1B3
Atlas Genet Cytogenet Oncol Haematol. 2010;14(11):1080-1081.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 dic(9;12)(p13;p12) PAX5/SLCO1B3

External links

PAX5 (9p13.2) SLCO1B3 (12p12.2)

PAX5 (9p13.2) SLCO1B3 (12p12.2)

Mitelman databasedic(9;12)(p13;p12)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databasePAX5::SLCO1B3 [MCList]  PAX5 (9p13.2) SLCO1B3 (12p12.2)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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