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ALL

Retrospective comparison of qualitative and quantitative reverse transcriptase polymerase chain reaction in diagnosing and monitoring the ALL1-AF4 fusion transcript in patients with acute lymphoblastic leukaemia

Leukemia volume 18, pages 1824–1830 (2004)Cite this article

Abstract

We compared quantitative reverse transcriptase polymerase chain reaction (Q-RT-PCR) to qualitative RT-PCR in determining response to therapy and predicting clinical outcome in 18 retrospectively selected patients with ALL positive for the ALL1-AF4 fusion and with frozen RNA samples collected at diagnosis and during follow-up (96 samples analysed). The ALL1-AF4 junction was detected by qualitative RT-PCR in 18 patients and by Q-RT-PCR in 17 patients (one patient harboured the rare e10-e6 ALL1-AF4 junction, which falls outside of the primer and probe location designed for the Q-RT-PCR). In three of the 12 patients negative to qualitative RT-PCR after induction therapy, a small number of ALL1-AF4 copies was detected by Q-RT-PCR. Thus nine patients were negative and eight positive. Seven of the eight positive patients suffered a relapse, including two of the three patients positive to Q-RT-PCR yet negative to qualitative RT-PCR. Moreover, we found two (5%) discordant results among the 39 follow-up tests of the nine patients who converted to a negative qualitative–quantitative PCR status. The results suggest that qualitative RT-PCR is more appropriate for the routine diagnosis of this genetic alteration. However, Q-RT-PCR is more accurate in assessing the molecular response after induction treatment and could be more useful in clinical decision-making in ALL1-AF4-positive ALL patients.

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Acknowledgements

This work was supported by the Associazione Italiana contro le Leucemie – Sezione di Roma (ROMAIL-ONLUS), Consiglio Nazionale delle ricerche (CNR), Legge 27 dicembre 1997, no. 449/97 and by Ospedale Bambino Gesù-IRCCS Grant 98/02/P/480.

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Authors and Affiliations

  1. Department of Cellular Biotechnology and Haematology, ‘La Sapienza’ University, Rome, Italy

    L Elia, G Floriddia, R Grillo, G Meloni, R Foà & G Cimino

  2. Department of Clinical and Biological Science, ‘San Luigi Gonzaga’ Hospital, University of Turin, Orbassano, Italy

    E Gottardi & G Saglio

  3. Unit of Internal Medicine 1, Azienda Ospedaliera S Antonio Abate, Gallarate, Italy

    F Ciambelli

  4. Department of Haematology, Pediatric Hospital ‘Bambino Gesù’, Vatican City, Italy

    M Luciani

  5. Institute of Haematology, Catholic University of ‘Sacro Cuore’, Rome, Italy

    P Chiusolo

  6. Unit of Internal Medicine and Medical Oncology of University of Pavia, IRCCS Policlinico S Matteo, Pavia, Italy

    R Invernizzi

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Correspondence to G Cimino.

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Elia, L., Gottardi, E., Floriddia, G. et al. Retrospective comparison of qualitative and quantitative reverse transcriptase polymerase chain reaction in diagnosing and monitoring the ALL1-AF4 fusion transcript in patients with acute lymphoblastic leukaemia. Leukemia 18, 1824–1830 (2004). https://doi.org/10.1038/sj.leu.2403448

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