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Open AccessArticle

The Q-LAMP Method Represents a Valid and Rapid Alternative for the Detection of the BCR-ABL1 Rearrangement in Philadelphia-Positive Leukemias

1
Department of Clinical and Experimental Medicine, University of Catania, 95123 Catania, Italy
2
Center of Experimental Oncology and Hematology, A.O.U. Policlinico-Vittorio Emanuele, 95123 Catania, Italy
3
Department of Clinical and Biological Sciences, University of Turin, A.O.U. San Luigi Gonzaga, 10043 Orbassano (Turin), Italy
4
Molecular Biology Unit, La Fe Universitary and Polytechnic Hospital, La Fe Health Research Institute, 46000 Valencia, Spain
5
Centro Ingegeneria Genetica (CEINGE)–Biotecnologie Avanzate, University Federico II, 80131 Naples, Italy
6
Hematology Unit, A.O.U. Federico II, University of Naples, 80131 Naples, Italy
7
Division of Hematology and Bone Marrow Transplant, AOU Policlinico-Vittorio Emanuele, 95123 Catania, Italy
8
Department of Molecular Medicine and Biotechnology, University Federico II, 80131 Naples, Italy
*
Author to whom correspondence should be addressed.
These authors contributed equally to this work.
Int. J. Mol. Sci. 2019, 20(24), 6106; https://doi.org/10.3390/ijms20246106
Received: 25 October 2019 / Revised: 26 November 2019 / Accepted: 1 December 2019 / Published: 4 December 2019
(This article belongs to the Special Issue Advances in Molecular Biology and Targeted Therapy of Leukemias 2.0)
Molecular detection of the BCR-ABL1 fusion transcripts is necessary for the genetic confirmation of a chronic myeloid leukemia diagnosis and for the risk classification of acute lymphoblastic leukemia. BCR-ABL1 mRNAs are usually identified using a conventional RT-PCR technique according to the BIOMED-1 method. In this study, we evaluated 122 BCR-ABL1-positive samples with the Q-LAMP assay to establish if this technology may represent a valid alternative to the qualitative BIOMED-1 PCR technique usually employed for the detection and the discrimination of the common BCR-ABL1 transcripts (p190 and p210 isoforms). We found a 100% concordance rate between the two methods. Specifically, the p190- and p210-positive samples were amplified by Q-LAMP with a median threshold time (Tt) of 26.70 min (range: 24.45–31.80 min) and 20.26 min (range: 15.25-34.57 min), respectively. A median time of 19.63 was observed in samples displaying both (e13a2/e14a2) p210 isoforms. Moreover, the Q-LAMP assay allowed recognition of the BCR-ABL1 e13a2 and e14a2 isoforms (median Tts 18.48 for e13a2 vs. 26.08 min for e14a2; p < 0.001). Finally, 20 samples harboring rare BCR-ABL1 isoforms (e1a3, e13a3, e14a3, and e19a2) were correctly identified by the Q-LAMP assay. We conclude that the Q-LAMP assay may represent a faster and valid alternative to the qualitative BIOMED-1 RT-PCR for the diagnosis at BCR-ABL1-positive leukemias, especially when samples are analyzed in centers with restricted resources and/or limited technical expertise. View Full-Text
Keywords: chronic myeloid leukemia; BCR-ABL1; Q-LAMP; e13a2; e14a2; rare transcripts chronic myeloid leukemia; BCR-ABL1; Q-LAMP; e13a2; e14a2; rare transcripts
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Stella, S.; Gottardi, E.M.; Favout, V.; Barragan Gonzalez, E.; Errichiello, S.; Vitale, S.R.; Fava, C.; Luciano, L.; Stagno, F.; Grimaldi, F.; Pironi, L.; Sargas Simarro, C.; Vigneri, P.; Izzo, B. The Q-LAMP Method Represents a Valid and Rapid Alternative for the Detection of the BCR-ABL1 Rearrangement in Philadelphia-Positive Leukemias. Int. J. Mol. Sci. 2019, 20, 6106.

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