PMID- 24216708 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20131112 LR - 20211021 IS - 2072-6694 (Print) IS - 2072-6694 (Electronic) IS - 2072-6694 (Linking) VI - 5 IP - 1 DP - 2013 Mar 11 TI - 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). PG - 281-95 LID - 10.3390/cancers5010281 [doi] AB - 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. FAU - Naiel, Abdulbasit AU - Naiel A AD - Leukaemia and Chromosome Research Laboratory, Division of Biosciences, Brunel University, London, Middlesex UB8 3PH, UK. sabrina.tosi@brunel.ac.uk. FAU - Vetter, Michael AU - Vetter M FAU - Plekhanova, Olga AU - Plekhanova O FAU - Fleischman, Elena AU - Fleischman E FAU - Sokova, Olga AU - Sokova O FAU - Tsaur, Grigory AU - Tsaur G FAU - Harbott, Jochen AU - Harbott J FAU - Tosi, Sabrina AU - Tosi S LA - eng PT - Journal Article DEP - 20130311 PL - Switzerland TA - Cancers (Basel) JT - Cancers JID - 101526829 PMC - PMC3730311 EDAT- 2013/11/13 06:00 MHDA- 2013/11/13 06:01 PMCR- 2013/03/11 CRDT- 2013/11/13 06:00 PHST- 2013/01/31 00:00 [received] PHST- 2013/02/28 00:00 [revised] PHST- 2013/03/04 00:00 [accepted] PHST- 2013/11/13 06:00 [entrez] PHST- 2013/11/13 06:00 [pubmed] PHST- 2013/11/13 06:01 [medline] PHST- 2013/03/11 00:00 [pmc-release] AID - cancers5010281 [pii] AID - cancers-05-00281 [pii] AID - 10.3390/cancers5010281 [doi] PST - epublish SO - Cancers (Basel). 2013 Mar 11;5(1):281-95. doi: 10.3390/cancers5010281.