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t(5;14)(q35;q11) TRD::NKX2-5

Written2009-06Jean-Loup Huret
Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

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ICD-Morpho 9837/3 T lymphoblastic leukaemia/lymphoma
ICD-Morpho 9861/3 AML with mutated NPM1; AML with mutated CEBPA; Acute myeloid leukaemia, NOS
Atlas_Id 1385

Clinics and Pathology

Disease T-cell acute lymphoblastic leukemia (T-ALL)
Epidemiology In only one case of t(5;14)(q35;q11) was the involvement of NKX2-5 and TRD ascertained. It was the case of a 3-year-old male patient with a common T-ALL, herein described (Przybylski et al., 2006). Another case of t(5;14)(q35;q11), but without NKX2-5-TRD ascertainement, is the case of a 45-year-old male patient with an acute monoblastic leukemia (FAB type M5). In this second case, the t(5;14) appears to be secondary to a t(6;11)(q27;q23). Although molecular studies were not available at that time, it is likely that the patient, who have had a history of possible toxic exposure, who presented with a high blood count (above 50X109/l), and who did not enter complete remission, had a MLL-MLLT4 hybrid gene (Welborn et al., 1993).

Genes involved and Proteins

Gene NameTRD (T cell Receptor Delta)
Location 14q11.2
Protein T cell receptor.
Gene NameNKX2-5 (NK2 transcription factor related, locus 5 (Drosophila).
Location 5q35.1
Protein Homeodomain protein; belongs to the NK2/NKX family. Transcriptional activator; regulates beta-catenin and GATA4 in human cardiomyocytes (Riazi et al., 2009). Involved in cardiac morphogenesis. NKX2-5 mutations may cause congenital heart diseases, although it does not appear to be the main aetiologic factor (Draus et al., 2009).

Result of the chromosomal anomaly

Fusion Protein
Description The break on chromosome 5 occurred between NKX2-5 and BNIP1, and downstream the D3 diversity segment of TRD on chromosome 14. NKX2-5 was placed under influence of the TRD enhancer, resulting in strong ectopic NKX2-5 expression.

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.


Investigation of somatic NKX2-5 mutations in congenital heart disease.
Draus JM Jr, Hauck MA, Goetsch M, Austin EH 3rd, Tomita-Mitchell A, Mitchell ME.
J Med Genet. 2009 Feb;46(2):115-22.
PMID 19181906
The effect of a novel recombination between the homeobox gene NKX2-5 and the TRD locus in T-cell acute lymphoblastic leukemia on activation of the NKX2-5 gene.
Przybylski GK, Dik WA, Grabarczyk P, Wanzeck J, Chudobska P, Jankowski K, von Bergh A, van Dongen JJ, Schmidt CA, Langerak AW.
Haematologica. 2006 Mar;91(3):317-21.
PMID 16531254
NKX2-5 regulates the expression of beta-catenin and GATA4 in ventricular myocytes.
Riazi AM, Takeuchi JK, Hornberger LK, Zaidi SH, Amini F, Coles J, Bruneau BG, Van Arsdell GS.
PLoS One. 2009 May 28;4(5):e5698.
PMID 19479054
Unique clinical features and prognostic significance of the translocation (6;11) in acute leukemia.
Welborn JL, Jenks HM, Hagemeijer A.
Cancer Genet Cytogenet. 1993 Feb;65(2):125-9. (REVIEW)
PMID 8453597


This paper should be referenced as such :
Huret, JL
Atlas Genet Cytogenet Oncol Haematol. 2010;14(5):494-494.
Free journal version : [ pdf ]   [ DOI ]
On line version :

Other genes implicated (Data extracted from papers in the Atlas) [ 1 ]

Genes NKX2-5

Translocations implicated (Data extracted from papers in the Atlas)

 t(5;14)(q35;q11) TRD/NKX2-5

External links

TRD (-) NKX2-5 (5q35.1)

Mitelman databaset(5;14)(q35;q11)
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9837/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
arrayMap (UZH-SIB Zurich)Topo ( C42) Morph ( 9861/3) -   [auto + random 100 samples .. if exist ]   [tabulated segments]
Mitelman databaseTRD::NKX2-5 [MCList]  TRD (-) NKX2-5 (5q35.1)
REVIEW articlesautomatic search in PubMed
Last year articlesautomatic search in PubMed
All articlesautomatic search in PubMed

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