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The Development of Novel Therapies for the Treatment of Acute Myeloid Leukemia (AML)
Cancers 2013, 5(1), 281-295; doi:10.3390/cancers5010281
Article

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)

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1 Leukaemia and Chromosome Research Laboratory, Division of Biosciences, Brunel University, London, Middlesex UB8 3PH, UK 2 MetaSystems, Altlussheim 68804, Germany 3 Regional Children's Hospital N 1, Ekaterinburg 620149, Russia 4 Blokhin Russian Cancer Research Center Russian Academy of Medical Science, Moscow 115478, Russia 5 Research Institute of Medical Cell Technologies, Ekaterinburg 620149, Russia 6 Oncogenetic Laboratory, Department of Paediatric Haematology and Oncology, Justus Liebig University, Giessen 35392, Germany
* Author to whom correspondence should be addressed.
Received: 31 January 2013 / Revised: 28 February 2013 / Accepted: 4 March 2013 / Published: 11 March 2013
(This article belongs to the Special Issue Leukemia)
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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.
Keywords: fluorescence in situ hybridization; chromosomal translocations; childhood leukaemia; t(7;12); ETV6; HLXB9 fluorescence in situ hybridization; chromosomal translocations; childhood leukaemia; t(7; 12); ETV6; HLXB9
This is an open access article distributed under the Creative Commons Attribution License (CC BY 3.0).

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Naiel, A.; Vetter, M.; Plekhanova, O.; Fleischman, E.; Sokova, O.; Tsaur, G.; Harbott, J.; Tosi, S. 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). Cancers 2013, 5, 281-295.

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