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Title: | A novel three-colour fluorescence in situ hybridization approach for the detection of t(7;12)(q36;p13) in acute myeloid leukaemia reveals new cryptic three way translocation t(7;12;16) |
Authors: | Naiel, A Vetter, M Plekhanova, O Fleischman, E Sokova, O Tsaur, G Harbott, J Tosi, S |
Keywords: | Fluorescence in situ hybridization;Chromosomal translocations;Childhood leukaemia;t(7;12);ETV6;HLXB9 |
Issue Date: | 2013 |
Publisher: | MDPI |
Citation: | Cancers, 5(1), 281 - 295, 2013 |
Abstract: | The t(7;12)(q36;p13) translocation is a recurrent chromosome abnormality that involves the ETV6 gene on chromosome 12 and has been identified in 20–30% of infant patients with acute myeloid leukaemia (AML). The detection of t(7;12) rearrangements relies on the use of fluorescence in situ hybridization (FISH) because this translocation is hardly visible by chromosome banding methods. Furthermore, a fusion transcript HLXB9-ETV6 is found in approximately 50% of t(7;12) cases, making the reverse transcription PCR approach not an ideal screening method. Considering the report of few cases of variant translocations harbouring a cryptic t(7;12) rearrangement, we believe that the actual incidence of this abnormality is higher than reported to date. The clinical outcome of t(7;12) patients is believed to be poor, therefore an early and accurate diagnosis is important in the clinical management and treatment. In this study, we have designed and tested a novel three-colour FISH approach that enabled us not only to confirm the presence of the t(7;12) in a number of patients studied previously, but also to identify a cryptic t(7;12) as part of a complex rearrangement. This new approach has proven to be an efficient and reliable method to be used in the diagnostic setting. |
Description: | © 2013 by the authors; licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution license (http://creativecommons.org/licenses/by/3.0/). |
URI: | http://bura.brunel.ac.uk/handle/2438/7704 |
DOI: | http://dx.doi.org/10.3390/cancers5010281 |
ISSN: | 2072-6694 |
Appears in Collections: | Biological Sciences Publications |
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