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

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 name
TRD (T cell Receptor Delta)
Location
14q11.2
Protein description
T cell receptor.
Gene name
NKX2-5 (NK2 transcription factor related, locus 5 (Drosophila).
Location
5q35.1
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

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.

Bibliography

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

Summary

Fusion gene

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

Citation

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)

External Links