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t(5;7)(q35;q21) TLX3::CDK6

Written2013-02Jean-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 9837/3 T lymphoblastic leukaemia/lymphoma
Atlas_Id 1491

Clinics and Pathology

Disease T-cell acute lymphoblastic leukemia (T-ALL)
Clinics Only two cases to date, a 5-year-old girl and a 8-year-old boy (Su et al., 2004).


Cytogenetics Morphological The rearrangement was cryptic.

Genes involved and Proteins

Gene NameTLX3 (T-cell leukemia, homeobox protein 3)
Location 5q35.1
Protein Transcription factor. TLX3 controls region-specific neuronal identities. TLX3 and TLX1 suppress GABAergic differentiation and promote glutamatergic dorsal horn neurons (Cheng et al., 2004). TLX3 and RUNX1 coordinate the development of a cohort of nociceptors, thermoceptors and pruriceptors (Lopes et al., 2012). TLX3 is required for proper formation of first-order relay visceral sensory neurons, especially involved in the physiologic control of cardiovascular and respiratory systems (Qian et al. 2001). TLX3 is upregulated by Wnt/beta-catenin signaling (Kondo et al., 2011). Calcium signaling regulates neurotransmitter specification.Calcium signaling involves phosphorylation of JUN that regulates TLX3 transcription through a CRE site in its promoter (Marek et al., 2010). TLX3 has been found expressed in 60% of cases in a cohort of childhood T-cell ALL, but not in adult T-cell ALL cases nor in B-cell ALL cases (Mauvieux et al., 2002).
Gene NameCDK6 (cyclin dependent kinase 6)
Location 7q21.2
Protein Member of the CDK family; G1-phase kinase; CDK4 and CDK6 are both partners of the 3 D-type cyclins (CCND1, CCND2, CCND3) to phosphorylate pRb; ubiquitously expressed; regulates cell-cycle progression through the G1 phase in proliferating cells; CDK4 and CDK6 are not completely redundant (Grossel and Hinds, 2006).

Result of the chromosomal anomaly

Fusion Protein
Oncogenesis Ectopic expression of TLX3.

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.


Tlx3 and Tlx1 are post-mitotic selector genes determining glutamatergic over GABAergic cell fates.
Cheng L, Arata A, Mizuguchi R, Qian Y, Karunaratne A, Gray PA, Arata S, Shirasawa S, Bouchard M, Luo P, Chen CL, Busslinger M, Goulding M, Onimaru H, Ma Q.
Nat Neurosci. 2004 May;7(5):510-7. Epub 2004 Apr 4.
PMID 15064766
From cell cycle to differentiation: an expanding role for cdk6.
Grossel MJ, Hinds PW.
Cell Cycle. 2006 Feb;5(3):266-70. Epub 2006 Feb 6. (REVIEW)
PMID 16410727
Wnt signaling promotes neuronal differentiation from mesenchymal stem cells through activation of Tlx3.
Kondo T, Matsuoka AJ, Shimomura A, Koehler KR, Chan RJ, Miller JM, Srour EF, Hashino E.
Stem Cells. 2011 May;29(5):836-46. doi: 10.1002/stem.624.
PMID 21374761
Tlx3 and Runx1 act in combination to coordinate the development of a cohort of nociceptors, thermoceptors, and pruriceptors.
Lopes C, Liu Z, Xu Y, Ma Q.
J Neurosci. 2012 Jul 11;32(28):9706-15. doi: 10.1523/JNEUROSCI.1109-12.2012.
PMID 22787056
cJun integrates calcium activity and tlx3 expression to regulate neurotransmitter specification.
Marek KW, Kurtz LM, Spitzer NC.
Nat Neurosci. 2010 Aug;13(8):944-50. doi: 10.1038/nn.2582. Epub 2010 Jun 27.
PMID 20581840
High incidence of Hox11L2 expression in children with T-ALL.
Mauvieux L, Leymarie V, Helias C, Perrusson N, Falkenrodt A, Lioure B, Lutz P, Lessard M.
Leukemia. 2002 Dec;16(12):2417-22.
PMID 12454747
Formation of brainstem (nor)adrenergic centers and first-order relay visceral sensory neurons is dependent on homeodomain protein Rnx/Tlx3.
Qian Y, Fritzsch B, Shirasawa S, Chen CL, Choi Y, Ma Q.
Genes Dev. 2001 Oct 1;15(19):2533-45.
PMID 11581159
Various types of rearrangements target TLX3 locus in T-cell acute lymphoblastic leukemia.
Su XY, Busson M, Della Valle V, Ballerini P, Dastugue N, Talmant P, Ferrando AA, Baudry-Bluteau D, Romana S, Berger R, Bernard OA.
Genes Chromosomes Cancer. 2004 Nov;41(3):243-9.
PMID 15334547


This paper should be referenced as such :
Huret, JL
t(5;7)(q35;q21) TLX3/CDK6
Atlas Genet Cytogenet Oncol Haematol. 2013;17(7):496-497.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;7)(q35;q21) TLX3/CDK6

External links

Mitelman databaset(5;7)(q35;q21)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [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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