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t(2;9)(p24;p13) PAX5::KIDINS220

Written2018-11Tatiana Gindina
R.M. Gorbacheva Memorial Institute of Children Oncology, Hematology and Transplantation at Pavlov First Saint-Petersburg State Medical University, Saint-Petersburg, Russian Federation / e-mail:

Abstract Review on t(2;9)(p24;p13), with data on the genes involved

Keywords Chromosome 2; Chromosome 9;

(Note : for Links provided by Atlas : click)


ICD-Topo C420,C421,C424
ICD-Morpho 9811/3 B lymphoblastic leukaemia/lymphoma, NOS
Atlas_Id 1805

Clinics and Pathology

Disease B acute lymphoblastic leukemia
Phenotype / cell stem origin Immunophenotyping revealed that the leukemic blasts were positive for CD10, CD19, CD34, CD58, CD66c, CD38, CD79a, and HLA-DR.
Epidemiology Only one case to date: a 7-year-old boy (Sakamoto et al, 2016).
Treatment The patient achieved first complete remission under the extremely high-risk protocol (JACLS ALL-02), he underwent allogeneic HSCT due to a poor response to initial induction therapy. However, the patient relapsed and died in 5 years after the initial diagnosis (Sakamoto et al. ,2017).


Cytogenetics Morphological G-banding analysis showed a normal karyotype. It is a cryptic translocation, not visible with conventional cytogenetics.

Genes involved and Proteins

Gene NameKIDINS220
Location 2p24
Note Kinase D-interacting substrate of 220 kDa.
Protein KIDINS220 gene encodes a transmembrane protein that is a mediator of multiple receptor signaling pathways, interacts with both T- and B-cell receptors, and is necessary for sustained extracellular signal-regulated kinase (ERK) signaling.
Gene NamePAX5
Location 9p13
Protein PAX5 gene encodes a member of the paired box family of transcription factors. PAX5 is the B-cell lineage specific activator protein that is expressed at early stages of B-cell differentiation. PAX5 rearrangements induce a differentiation block in B lymphocytes.

Result of the chromosomal anomaly

Hybrid gene
Description PAX5/KIDINS220
Transcript Nucleotide sequence analyses revealed that PAX5 exon 7 was fused in-frame to KIDINS220 exon 20.
Fusion Protein
  Structure of the PAX5/KIDNS220 fusion protein. PD, paired domain; OP, octapeptide domain; HD, homeodomain; TAD, transactivation domain; ID- inhibitory domain; Pro, proline-rich domain; SAM, sterile alpha motif domain; KIM, kinesin light chain-interacting motif; PDZ, PDZ-binding motif; Ank, ankyrin repeat; TM, transmembrane region.
Description The PAX5 protein is fused in-frame to KIDINS220 at amino acids 306 and 871, respectively, resulting in the preservation of the N-terminal region of PAX5, including the DNA-binding domain, and the C-terminal region of KIDINS220, including several protein-protein interaction domains (Sakamoto et al., 2017). The PAX5/KIDINS220 fusion protein preserves the DNA-binding domain of PAX5 and growth promotion activities of KIDINS220.
Oncogenesis The PAX5/KIDINS220 fusion protein plays a dual role in leukemogenesis: first, the fusion protein likely induces a block in the differentiation of B lymphocytes by inhibition of wild-type PAX5 function; second, it possibly enhances ERK signaling pathway activation through KIDINS220, resulting in increased proliferation and a survival advantage for leukemic cells. Functional studies need to be performed to determine the precise function of PAX5/KIDINS220 fusion (Sakamoto et al., 2017).

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.


Ph-like acute lymphoblastic leukemia with a novel PAX5-KIDINS220 fusion transcript.
Sakamoto K, Imamura T, Kanayama T, Yano M, Asai D, Deguchi T, Hashii Y, Tanizawa A, Ohshima Y, Kiyokawa N, Horibe K, Sato A.
Genes, Chromosome Cancer. 2017; 56(4):278-284.
PMID 27870151


This paper should be referenced as such :
Tatiana Gindina
t(2;9)(p24;p13) PAX5/KIDINS220
Atlas Genet Cytogenet Oncol Haematol. 2019;23(10):312-313.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(2;9)(p24;p13) PAX5/KIDINS220

External links

Mitelman databaset(2;9)(p24;p13)
arrayMap (UZH-SIB Zurich)Morph ( 9811/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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