Hematology and Leukemia

Hematology and Leukemia

ISSN 2052-434X
Short report

Detection of t(7;12)(q36;p13) in paediatric leukaemia using dual colour fluorescence in situ hybridisation

Temitayo Owoka1, Michael Vetter2, Concetta Federico3, Salvatore Saccone3 and Sabrina Tosi1*

*Correspondence: Sabrina Tosi sabrina.tosi@brunel.ac.uk

1. Leukaemia and Chromosome Research Laboratory, Division of Biosciences, Brunel University London, Middlesex UB8 3PH, UK.

Author Affiliations

2. MetaSystems, Altlussheim 68804, Germany.

3. Department of Biological, Geological and Environmental Section of Animal Biology, University of Catania, Italy.


The identification of chromosomal rearrangements is of utmost importance for the diagnosis and classification of specific leukaemia subtypes and therefore has an impact on therapy choices in individual cases. The t(7;12)(q36;p13) is a cryptic rearrangement that is difficult to recognise using conventional cytogenetic methods and is often undetected by reverse transcription polymerase chain reaction due to the absence of a fusion transcript in many cases. Here we present a reliable and easy to use dual colour fluorescence in situ hybridisation assay for the detection of the t(7;12)(q36;p13) rearrangement. A comparison with previous similar work is given and advantages and limitations of this novel approach are discussed.

Keywords: Fluorescence in situ hybridisation, t(7;12), HLXB9, ETV6, chromosome abnormalities, myeloid malignancies, paediatric leukaemia

ISSN 2052-434X
Volume 3
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