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

2009-06-01   Jean-Loup Huret 

1.Genetics, Dept Medical Information, University of Poitiers, CHU Poitiers Hospital, F-86021 Poitiers, France

Clinics and Pathology


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 name
TRD (T cell Receptor Delta)
Protein description
T cell receptor.
Gene name
NKX2-5 (NK2 transcription factor related, locus 5 (Drosophila).
Protein description
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


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.


Pubmed IDLast YearTitleAuthors
191819062009Investigation of somatic NKX2-5 mutations in congenital heart disease.Draus JM Jr et al
165312542006The 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 et al
194790542009NKX2-5 regulates the expression of beta-catenin and GATA4 in ventricular myocytes.Riazi AM et al
84535971993Unique clinical features and prognostic significance of the translocation (6;11) in acute leukemia.Welborn JL et al


Fusion gene

TRD/NKX2-5 TRD (-) NKX2-5 (5q35.1) M t(5;14)(q35;q11)


Jean-Loup Huret

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

Atlas Genet Cytogenet Oncol Haematol. 2009-06-01

Online version: http://atlasgeneticsoncology.org/haematological/1385/t(5;14)(q35;q11)

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