%0 Journal Article
%T 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)
%A Abdulbasit Naiel
%A Michael Vetter
%A Olga Plekhanova
%A Elena Fleischman
%A Olga Sokova
%A Grigory Tsaur
%A Jochen Harbott
%A Sabrina Tosi
%J Cancers
%D 2013
%I MDPI AG
%R 10.3390/cancers5010281
%X 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¨C30% 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.
%K fluorescence in situ hybridization
%K chromosomal translocations
%K childhood leukaemia
%K t(7
%K 12)
%K ETV6
%K HLXB9
%U http://www.mdpi.com/2072-6694/5/1/281