PMID- 19583844 OWN - NLM STAT- PubMed-not-MEDLINE DCOM- 20091211 LR - 20211020 IS - 1471-2326 (Electronic) IS - 1471-2326 (Linking) VI - 9 DP - 2009 Jul 7 TI - Application of tri-colour, dual fusion fluorescence in situ hybridization (FISH) system for the characterization of BCR-ABL1 fusion in chronic myelogenous leukaemia (CML) and residual disease monitoring. PG - 4 LID - 10.1186/1471-2326-9-4 [doi] AB - BACKGROUND: We studied the application of the BCR-ABL1 + 9q34 tri-colour dual fusion fluorescence in situ hybridization (FISH) system in the characterization of fusion signal pattern and the monitoring of residual disease in chronic myelogenous leukaemia (CML). The signal constellation on metaphases with the tri-colour dual fusion system was defined. The knowledge of various signal patterns obtained from the different genetic rearrangements was further applied to the analysis of hybridization signals on interphase nuclei. METHODS: BCR-ABL1 dual colour, dual fusion FISH (D-FISH) was performed on diagnostic samples of 22 CML patients. The tri-colour FISH system was performed on cases that showed aberrant signal patterns other than the classical 1 green (G) 1 orange (O) 2 fusions (F). Using the aqua band-pass filter, random signal overlap in interphase nuclei would be indicated by the presence of an aqua signal (ASS1), while genuine fusion was represented by the absence of the ASS1 signal. RESULTS: Using the D-FISH system, the signal patterns could be categorized into 4 groups: group 1 (n = 17) showed the classical 1G1O2F; group 2 (n = 2) showed 2G1O1F indicating ABL1 deletion; group 3 (n = 1) showed 1G2O1F indicating BCR deletion; group 4 (n = 2) with 1G1O1F indicating reciprocal ABL1-BCR deletion. The tri-colour dual fusion system correlated with the D-FISH system for cases with der(9) deletion. The added aqua-labelled ASS1 probe was useful in differentiating random signal overlap from genuine BCR-ABL1 fusion in the interphase cells (group 4). CONCLUSION: Although the D-FISH probe was valuable in establishing the different patterns of aberrant signals and monitoring patients with the classic 2-fusion signals in CML, the tri-colour dual fusion probe should be used for patients with der(9) deletion to monitor response to treatment. FAU - Siu, Lisa Lp AU - Siu LL AD - Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, PR China. FAU - Ma, Edmond Sk AU - Ma ES AD - Division of Molecular Pathology, Department of Pathology, Hong Kong Sanatorium & Hospital, Hong Kong SAR, PR China. FAU - Wong, Wai Shan AU - Wong WS AD - Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, PR China. FAU - Chan, Man Hong AU - Chan MH AD - Department of Medicine, Queen Elizabeth Hospital, Hong Kong SAR, PR China. FAU - Wong, Kit Fai AU - Wong KF AD - Department of Pathology, Queen Elizabeth Hospital, Hong Kong SAR, PR China. LA - eng PT - Journal Article DEP - 20090707 PL - England TA - BMC Blood Disord JT - BMC blood disorders JID - 100968550 PMC - PMC2715371 EDAT- 2009/07/09 09:00 MHDA- 2009/07/09 09:01 PMCR- 2009/07/07 CRDT- 2009/07/09 09:00 PHST- 2009/01/15 00:00 [received] PHST- 2009/07/07 00:00 [accepted] PHST- 2009/07/09 09:00 [entrez] PHST- 2009/07/09 09:00 [pubmed] PHST- 2009/07/09 09:01 [medline] PHST- 2009/07/07 00:00 [pmc-release] AID - 1471-2326-9-4 [pii] AID - 10.1186/1471-2326-9-4 [doi] PST - epublish SO - BMC Blood Disord. 2009 Jul 7;9:4. doi: 10.1186/1471-2326-9-4.