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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)

1
, 2
, 3
, 4
, 4
, 3,5
, 6
 and 1,*
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 which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

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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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