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ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia

Leukemia volume 16, pages 669–674 (2002)Cite this article

Abstract

Dual-color interphase fluorescence in situ hybridization (FISH) with ETV6 and AML1 probes was used for the first time on a series of 159 adult patients with acute lymphoblastic leukemia (ALL), for detection of the t(12;21)(p13;q22) translocation. Seven patients (4.4%) were found, with 50–100% of positive cells, of whom one of two tested, proved negative for the fusion product by RT-PCR. Two of them, aged 43 and 50 years, are the oldest patients so far confirmed to have the translocation. Three who relapsed at 10, 11 and 24 months, suggest that adults may not enjoy the good short-term prognosis reported for t(12;21)-positive children. Thirty-one-negative cases had signal numbers differing from the two expected for each gene. In 15 cases these results were consistent with the karyotype. In nine cases with uninformative cytogenetics, the numbers were consistent with those for centromeres and indicated a hidden aneuploidy. Loss of ETV6 genes in two cases and AML1 amplification in three others were not suspected from the cytogenetics. In conclusion, FISH proved to be reliable in defining ETV6/AML1 positivity in this group of patients as well as providing valuable insights into negative cases.

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Acknowledgements

The authors would like to thank: The UKCCG laboratories who provided patient samples: Belfast, Birmingham, Bristol, Cambridge, Cardiff, Croydon, Dundee, Edinburgh, Glasgow, Ipswich, Leeds, Leicester, Liverpool, Manchester, Norwich, Nottingham, Oxford, Salisbury, Sheffield and in the following London Hospitals – Hammersmith, King's College, Northwick Park, Royal Free and University College; the Medical Research Council Leukaemia Working Party for UKALL XII and all physicians who enter patients to the trial; Julie Burrett of the Clinical Trial Service Unit in Oxford for providing patient data; the Leukaemia Research Fund centre for Adult Leukaemia at the Hammersmith Hospital for the RT-PCR results. Research grant support from The Leukaemia Research Fund.

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Authors and Affiliations

  1. Department of Haematology, LRF/UKCCG Karyotype Database in ALL, The Royal Free and University College Medical School, London, UK

    MS Jabber Al-Obaidi, M Martineau, CF Bennett, L Harewood, GR Jalali, K Roberts & CJ Harrison

  2. Cancer Sciences Division, The General Hospital, Southampton, UK

    M Martineau & CJ Harrison

  3. University Department of Medicine, Royal Infirmary, Glasgow, UK

    IM Franklin

  4. Department of Haematology, University College Hospital, London, UK

    AH Goldstone

  5. Department of Haematology, Royal Free Hospital, London, UK

    HG Prentice

  6. CTSU, Radcliffe Infirmary, Oxford, UK

    SM Richards

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  1. MS Jabber Al-Obaidi
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Jabber Al-Obaidi, M., Martineau, M., Bennett, C. et al. ETV6/AML1 fusion by FISH in adult acute lymphoblastic leukemia. Leukemia 16, 669–674 (2002). https://doi.org/10.1038/sj.leu.2402435

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